An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Muscular Dystrophy, Animal: A group of genetic disorders causing progressive skeletal muscle weakness and degeneration, characterized by the lack of or defective dystrophin protein, which can also affect other organ systems such as heart and brain, occurring in various forms with different degrees of severity and age of onset, like Duchenne, Becker, Myotonic, Limb-Girdle, and Facioscapulohumeral types, among others.
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
Embryonic (precursor) cells of the myogenic lineage that develop from the MESODERM. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes (MYOCYTES, SKELETAL; MYOCYTES, CARDIAC; MYOCYTES, SMOOTH MUSCLE).
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Also called the shoulder blade, it is a flat triangular bone, a pair of which form the back part of the shoulder girdle.
Part of the body in humans and primates where the arms connect to the trunk. The shoulder has five joints; ACROMIOCLAVICULAR joint, CORACOCLAVICULAR joint, GLENOHUMERAL joint, scapulathoracic joint, and STERNOCLAVICULAR joint.
STRIATED MUSCLE cell components which anchor the MYOFIBRILS from the Z-bands to the SARCOLEMMA and EXTRACELLULAR MATRIX. Costameric proteins include the proteins of FOCAL ADHESIONS.
Muscles of facial expression or mimetic muscles that include the numerous muscles supplied by the facial nerve that are attached to and move the skin of the face. (From Stedman, 25th ed)
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Developmental events leading to the formation of adult muscular system, which includes differentiation of the various types of muscle cell precursors, migration of myoblasts, activation of myogenesis and development of muscle anchorage.
An autosomally-encoded 376-kDa cytoskeletal protein that is similar in structure and function to DYSTROPHIN. It is a ubiquitously-expressed protein that plays a role in anchoring the CYTOSKELETON to the PLASMA MEMBRANE.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).
Contractile tissue that produces movement in animals.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Any method used for determining the location of and relative distances between genes on a chromosome.
Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Two closely related polypeptides (molecular weight 7,000) isolated from the thymus gland. These hormones induce the differentiation of prothymocytes to thymocytes within the thymus. They also cause a delayed impairment of neuromuscular transmission in vivo and are therefore believed to be the agent responsible for myasthenia gravis.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.
A group of proteins that associate with DYSTROPHIN at the CELL MEMBRANE to form the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.
The excitable plasma membrane of a muscle cell. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)
Identification of genetic carriers for a given trait.
A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. (1/134)

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious onset and progressive course. The disease has a frequency of about 1 in 20,000 and is transmitted in an autosomal dominant fashion with almost complete penetrance. Deletion of an integral number of tandemly arrayed 3.3-kb repeat units (D4Z4) on chromosome 4q35 is associated with FSHD but otherwise the molecular basis of the disease and its pathophysiology remain obscure. Comparison of mRNA populations between appropriate cell types can facilitate identification of genes relevant to a particular biological or pathological process. In this report, we have compared mRNA populations of FSHD and normal muscle. Unexpectedly, the dystrophic muscle displayed profound alterations in gene expression characterized by severe underexpression or overexpression of specific mRNAs. Intriguingly, many of the deregulated mRNAs are muscle specific. Our results suggest that a global misregulation of gene expression is the underlying basis for FSHD, distinguishing it from other forms of muscular dystrophy. The experimental approach used here is applicable to any genetic disorder whose pathogenic mechanism is incompletely understood.  (+info)

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). (2/134)

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However, diagnosis of FSHD is complicated by three factors. First, the probe cross hybridises to a highly homologous repeat array locus on chromosome 10q26. Second, although a BlnI polymorphism allows discrimination between the repeat units on chromosomes 4 and 10 and greatly facilitates FSHD diagnosis, the occurrence of translocations between chromosomes 4 and 10 further complicates accurate FSHD diagnosis. Third, the recent identification of deletions of p13E-11 in both control and FSHD populations is an additional complicating factor. Although pulsed field gel electrophoresis is very useful and sometimes necessary to detect these rearrangements, this technique is not operational in most FSHD diagnostic laboratories. Moreover, repeat arrays >200 kb are often difficult to detect and can falsely suggest a deletion of p13E-11. Therefore, we have developed an easy and reliable Southern blotting method to identify exchanges between 4 type and 10 type repeat arrays and deletions of p13E-11. This BglII-BlnI dosage test addresses all the above mentioned complicating factors and can be carried out in addition to the standard Southern blot analysis for FSHD diagnosis as performed in most laboratories. It will enhance the specificity and sensitivity of conventional FSHD diagnosis to the values obtained by PFGE based diagnosis of FSHD. Moreover, this study delimits the FSHD candidate gene region by mapping the 4;10 translocation breakpoint proximal to the polymorphic BlnI site in the first repeat unit.  (+info)

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. (3/134)

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by deletion of most copies of the 3.3-kb subtelomeric D4Z4 repeat array on chromosome 4q. The molecular mechanisms behind the deletion and the high proportion of new mutations have remained elusive. We surveyed 35 de novo FSHD families and found somatic mosaicism in 40% of cases, in either the patient or an asymptomatic parent. Mosaic males were typically affected; mosaic females were more often the unaffected parent of a nonmosaic de novo patient. A genotypic-severity score, composed of the residual repeat size and the degree of somatic mosaicism, yields a consistent relationship with severity and age at onset of disease. Mosaic females had a higher proportion of somatic mosaicism than did mosaic males. The repeat deletion is significantly enhanced by supernumerary homologous repeat arrays. In 10% of normal chromosomes, 4-type repeat arrays are present on chromosome 10. In mosaic individuals, 4-type repeats on chromosome 10 are almost five times more frequent. The reverse configuration, also 10% in normal chromosomes, was not found, indicating that mutations may arise from transchromosomal interaction, to which the increase in 4-type repeat clusters is a predisposing factor. The somatic mosaicism suggests a mainly mitotic origin; mitotic interchromosomal gene conversion or translocation between fully homologous 4-type repeat arrays may be a major mechanism for FSHD mutations.  (+info)

Response to vecuronium in a patient with facioscapulohumeral muscular dystrophy. (4/134)

Increased sensitivity to vecuronium has been noted in patients with Duchenne muscular dystrophy. We report the response to vecuronium in a patient with facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant disorder with an incidence of 10-20 cases per million. In this patient, sensitivity to an initial dose of vecuronium (0.02 + 0.08 mg kg-1) was normal, but recovery was faster and the effect of incremental doses of vecuronium (0.02 mg kg-1) was less than expected. Onset time and 25% recovery of T1/T0 after the intubating dose of vecuronium were 240 s and 22 min, respectively. Recovery index (spontaneous recovery of T1/T0 from 25% to 75%) was 9 min.  (+info)

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. (5/134)

Consensual diagnostic criteria for facioscapulohumeral dystrophy (FSHD) include onset of the disease in facial or shoulder girdle muscles, facial weakness in more than 50% of affected family members, autosomal dominant inheritance in familial cases, and evidence of myopathic disease in at least one affected member without biopsy features specific to alternative diagnoses. Six patients did not meet most of these criteria but were diagnosed as FSHD by DNA testing, which showed small EcoRI fragments on chromosome 4q. Their clinical signs and symptoms and results of auxiliary investigations are reported. The patients presented with foot extensor, thigh, or calf muscle weakness. None of them had apparent facial weakness, only one complained of weakness in the shoulders, none had a positive family history. Expert physical examination, however, showed a typical facial expression, an abnormal shoulder configuration on lifting the arms, or scapular winging. This raised the suspicion of FSHD, whereupon DNA analysis was done. In conclusion, the clinical expression of FSHD is much broader than indicated by the nomenclature. The possibility to perform DNA tests is likely to greatly expand the clinical range of FSHD.  (+info)

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. (6/134)

Chromosomal rearrangements occur more frequently in subtelomeric domains than in other regions of the genome and are often associated with human pathology. To further elucidate the plasticity of subtelomeric domains, we examined the 3.3 kb D4Z4 repeat array on chromosome 4 and its homologue on chromosome 10 in 208 Dutch blood donors by pulsed field gel electrophoresis. These subtelomeric repeats are known to rearrange and partial deletions of this polymorphic array on chromosome 4 are associated with facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant myopathy. Our results show that mitotic rearrangements occur frequently as 3% of individuals display somatic mosaicism for a repeat expansion or contraction explaining the high variability of subtelomeric repeat array sizes. Translocated 4-type repeat arrays on chromosome 10 and the reverse configuration of 10-type repeat arrays on chromosome 4 are observed in 21% of individuals. The translocated repeat arrays on chromosome 4 tend to be more heterogeneous than 4-type repeats on chromosome 10. The repeat length on chromosome 4 is on average larger than on chromosome 10. But on both chromosomes we observe a multi-modal repeat length distribution with equidistant peaks at intervals of 65 kb, possibly reflecting a higher-order chromatin structure. Interestingly, in as many as six random blood donors (3%) we identified FSHD-sized 4-type repeat arrays. Assuming that these individuals are clinically unaffected, these results imply an incomplete penetrance in the upper range of FSHD alleles. Overall, the observed dynamic characteristics of these homologous domains may serve as a model for subtelomeric plasticity.  (+info)

Altered aquaporin-4 expression in human muscular dystrophies: a common feature? (7/134)

Duchenne Muscular Dystrophy (DMD) is a progressive lethal muscle disease that affects young boys. Dystrophin, absent in DMD and reduced in the milder form Becker Muscular Dystrophy (BMD), binds to several membrane-associated proteins known as dystrophin-associated proteins (DAPs). Once this critical structural link is disrupted, muscle fibers become more vulnerable to mechanical and osmotic stress. Recently, we have reported that the expression of aquaporin-4 (AQP4), a water-selective channel expressed in the sarcolemma of fast-twitch fibers and astrocyte end-feet, is drastically reduced in the muscle and brain of the mdx mouse, the animal model of DMD. In the present study, we analyzed the expression of AQP4 in several DMD/BMD patients of different ages with different mutations in the dystrophin gene. Immunofluorescence results indicate that, compared with healthy control children, AQP4 is reduced severely in all the DMD muscular biopsies analyzed and in 50% of the analyzed BMD. Western blot analysis revealed that the deficiency in sarcolemma AQP4 staining is due to a reduction in total AQP4 muscle protein content rather than to changes in immunoreactivity. Double-immunostaining experiments indicate that AQP4 reduction is independent of changes in the fiber myosin heavy chain composition. AQP4 and a-syntrophin analysis of BMD muscular biopsies revealed that the expression and stability of AQP4 in the sarcolemma does not always decrease when a-syntrophin is strongly reduced. Finally, limb-girdle muscular dystrophy biopsies and facioscapulohumeral muscular dystrophy revealed that AQP4 expression was not altered in these forms of muscular dystrophy. These experiments provide the first evidence of AQP4 reduction in a human pathology and show that this deficiency is an important feature of DMD/BMD.  (+info)

Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. (8/134)

Facioscapulohumeral muscular dystrophy (FSHD), a common myopathy, is an autosomal dominant disease of unknown molecular mechanism. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Here, we find that in FSHD muscle, 4q35 genes located upstream of D4Z4 are inappropriately overexpressed. We show that an element within D4Z4 specifically binds a multiprotein complex consisting of YY1, a known transcriptional repressor, HMGB2, an architectural protein, and nucleolin. We demonstrate that this multiprotein complex binds D4Z4 in vitro and in vivo and mediates transcriptional repression of 4q35 genes. Based upon these results, we propose that deletion of D4Z4 leads to the inappropriate transcriptional derepression of 4q35 genes resulting in disease.  (+info)

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic muscle disorder characterized by the progressive weakness and wasting (atrophy) of muscles in the face, shoulders, arms, and legs. It is caused by the abnormal expression of a gene called DUX4, which is normally only active during early embryonic development. In FSHD, this gene becomes reactivated in muscle cells, leading to their degeneration and death.

The symptoms of FSHD typically begin in late childhood or adolescence, although they can also appear in adulthood. The first noticeable sign is often difficulty raising the arms above the head or a weakened grip. Over time, the muscles of the face may become affected, leading to problems with smiling, swallowing, and speaking. The muscle weakness in FSHD tends to progress slowly, but it can vary widely from person to person. Some people with FSHD may require wheelchair assistance, while others may continue to walk with only minor limitations.

FSHD is inherited in an autosomal dominant manner, which means that a child has a 50% chance of inheriting the disease-causing gene from an affected parent. However, about 30% of cases are the result of new mutations and occur in people with no family history of the disorder. Currently, there is no cure for FSHD, but various treatments can help manage its symptoms and improve quality of life. These may include physical therapy, orthotics, assistive devices, and medications to treat pain or other complications.

Muscular dystrophies are a group of genetic disorders that primarily affect skeletal muscles, causing progressive weakness and degeneration. They are characterized by the lack or deficiency of a protein called dystrophin, which is essential for maintaining the integrity of muscle fibers. The most common form is Duchenne muscular dystrophy (DMD), but there are many other types with varying symptoms and severity. Over time, muscle wasting and weakness can lead to disability and shortened lifespan, depending on the type and progression of the disease. Treatment typically focuses on managing symptoms, maintaining mobility, and supporting quality of life.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness and degeneration. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. Without dystrophin, the muscle cells break down and are replaced with scar tissue, leading to loss of muscle function over time.

DMD primarily affects boys, as it is inherited in an X-linked recessive pattern, meaning that females who carry one affected X chromosome typically do not show symptoms but can pass the gene on to their offspring. Symptoms usually begin in early childhood and include difficulty with motor skills such as walking, running, and climbing stairs. Over time, the muscle weakness progresses and can lead to loss of ambulation, respiratory and cardiac complications, and ultimately, premature death.

Currently, there is no cure for DMD, but various treatments such as corticosteroids, physical therapy, and assisted ventilation can help manage symptoms and improve quality of life. Gene therapy approaches are also being investigated as potential treatments for this disorder.

I'm sorry for any confusion, but "Muscular Dystrophy, Animal" is not a standard medical term. Muscular Dystrophy is a group of genetic disorders that cause progressive weakness and loss of muscle mass. They are primarily human diseases and there are no known animal models of muscular dystrophy that directly correspond to any type of muscular dystrophy in humans.

However, scientists often use animals (like mice, dogs, and cats) as models for human diseases, including various types of muscular dystrophies. These animal models are used to study the disease process and to test potential treatments. For example, the mdx mouse is a well-known model of Duchenne Muscular Dystrophy (DMD), which is caused by a mutation in the dystrophin gene. This mouse lacks the muscle protein dystrophin, similar to humans with DMD, and shows many of the same symptoms, making it a valuable tool for research.

Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness, myotonia (delayed relaxation of muscles after contraction), and other symptoms. It is caused by an expansion of repetitive DNA sequences in the DMPK gene on chromosome 19 (type 1) or the ZNF9 gene on chromosome 3 (type 2). These expansions result in abnormal protein production and accumulation, which disrupt muscle function and can also affect other organs such as the heart, eyes, and endocrine system. Myotonic dystrophy is a progressive disease, meaning that symptoms tend to worsen over time. It is typically divided into two types: myotonic dystrophy type 1 (DM1), which is more common and severe, and myotonic dystrophy type 2 (DM2), which tends to be milder with a later onset of symptoms.

Dystrophin is a protein that provides structural stability to muscle fibers. It is an essential component of the dystrophin-glycoprotein complex, which helps maintain the integrity of the sarcolemma (the membrane surrounding muscle cells) during muscle contraction and relaxation. Dystrophin plays a crucial role in connecting the cytoskeleton of the muscle fiber to the extracellular matrix, allowing for force transmission and protecting the muscle cell from damage.

Mutations in the DMD gene, which encodes dystrophin, can lead to various forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD, a severe form of the disease, genetic alterations typically result in little or no production of functional dystrophin, causing progressive muscle weakness, wasting, and degeneration. In BMD, a milder form of the disorder, partially functional dystrophin is produced, leading to less severe symptoms and later onset of the disease.

Limb-girdle muscular dystrophy (LGMD) is a group of rare inherited disorders that cause progressive weakness and wasting of the muscles in the arms and legs, particularly those around the shoulders and hips (the limb-girdle region). The condition affects both males and females and presents at different ages, depending on the specific type of LGMD.

LGMD is caused by mutations in various genes that play a role in maintaining muscle integrity and function. These genetic defects lead to a deficiency or dysfunction of certain proteins necessary for muscle health, ultimately resulting in muscle degeneration and weakness. There are more than 30 different subtypes of LGMD, each with its own set of causative genes and inheritance patterns (autosomal dominant or autosomal recessive).

Symptoms of limb-girdle muscular dystrophy may include:

1. Progressive muscle weakness and wasting in the arms, legs, shoulders, and hips
2. Difficulty with activities such as climbing stairs, lifting objects, or getting up from a seated position
3. Enlarged calf muscles (pseudohypertrophy) due to muscle degeneration and fat replacement
4. Muscle contractures, joint stiffness, and limited range of motion
5. Difficulty walking, using wheelchair assistance in advanced stages
6. Respiratory complications due to weakened chest muscles in some cases

Diagnosis of LGMD typically involves a combination of clinical evaluation, family history, muscle biopsy, genetic testing, and blood tests for creatine kinase (CK) levels, which are often elevated in muscular dystrophies. Treatment is primarily supportive and focuses on maintaining mobility, preventing complications, and preserving quality of life through physical therapy, assistive devices, and orthopedic interventions as needed. No cure currently exists for limb-girdle muscular dystrophy, but ongoing research aims to develop targeted therapies based on the underlying genetic defects.

Myoblasts are types of cells that are responsible for the development and growth of muscle tissue in the body. They are undifferentiated cells, meaning they have not yet developed into their final form or function. Myoblasts fuse together to form myotubes, which then develop into muscle fibers, also known as myofibers. This process is called myogenesis and it plays a crucial role in the growth, repair, and maintenance of skeletal muscle tissue throughout an individual's life.

Myoblasts can be derived from various sources, including embryonic stem cells, induced pluripotent stem cells, or satellite cells, which are adult stem cells found within mature muscle tissue. Satellite cells are typically quiescent but can be activated in response to muscle damage or injury, proliferate and differentiate into myoblasts, and fuse together to repair and replace damaged muscle fibers.

Dysregulation of myogenesis and impaired myoblast function have been implicated in various muscle-related disorders, including muscular dystrophies, sarcopenia, and cachexia. Therefore, understanding the biology of myoblasts and their role in muscle development and regeneration is an important area of research with potential therapeutic implications for muscle-related diseases.

'Mice, Inbred mdx' is a genetic strain of laboratory mice that are widely used as a model to study Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting disorder in humans. The 'mdx' designation refers to the specific genetic mutation present in these mice, which is a point mutation in the gene encoding for dystrophin, a crucial protein involved in maintaining the structural integrity of muscle fibers.

Inbred mdx mice carry a spontaneous mutation in exon 23 of the dystrophin gene, resulting in the production of a truncated and nonfunctional form of the protein. This leads to a phenotype that closely resembles DMD in humans, including muscle weakness, degeneration, and fibrosis. The inbred nature of these mice ensures consistent genetic backgrounds and disease manifestations, making them valuable tools for studying the pathophysiology of DMD and testing potential therapies.

It is important to note that while the inbred mdx mouse model has been instrumental in advancing our understanding of DMD, it does not fully recapitulate all aspects of the human disease. Therefore, findings from these mice should be carefully interpreted and validated in more complex models or human studies before translating them into clinical applications.

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by the triad of 1) early contractures of the elbow and Achilles tendons, 2) slowly progressive muscle weakness and wasting, which begins in the muscles around the shoulder and pelvis and later involves the arms and legs, and 3) cardiac conduction defects that can lead to serious heart rhythm abnormalities.

EDMD is caused by mutations in one of several genes, including the EMD, LMNA, FHL1, and SYNE1/2 genes. These genes provide instructions for making proteins that are important for maintaining the structure and function of muscle cells, as well as the electrical activity of the heart.

The symptoms of EDMD can vary in severity and age of onset, even among family members with the same genetic mutation. Treatment typically focuses on managing the symptoms of the disease, including physical therapy to maintain mobility, bracing or surgery for contractures, and medications to manage cardiac arrhythmias. In some cases, a heart transplant may be necessary.

Human chromosome pair 10 refers to a group of genetic materials that are present in every cell of the human body. Chromosomes are thread-like structures that carry our genes and are located in the nucleus of most cells. They come in pairs, with one set inherited from each parent.

Chromosome pair 10 is one of the 22 autosomal chromosome pairs, meaning they contain genes that are not related to sex determination. Each member of chromosome pair 10 is a single, long DNA molecule that contains thousands of genes and other genetic material.

Chromosome pair 10 is responsible for carrying genetic information that influences various traits and functions in the human body. Some of the genes located on chromosome pair 10 are associated with certain medical conditions, such as hereditary breast and ovarian cancer syndrome, neurofibromatosis type 1, and Waardenburg syndrome type 2A.

It's important to note that while chromosomes carry genetic information, not all variations in the DNA sequence will result in a change in phenotype or function. Some variations may have no effect at all, while others may lead to changes in how proteins are made and function, potentially leading to disease or other health issues.

Tandem Repeat Sequences (TRS) in genetics refer to repeating DNA sequences that are arranged directly after each other, hence the term "tandem." These sequences consist of a core repeat unit that is typically 2-6 base pairs long and is repeated multiple times in a head-to-tail fashion. The number of repetitions can vary between individuals and even between different cells within an individual, leading to genetic heterogeneity.

TRS can be classified into several types based on the number of repeat units and their stability. Short Tandem Repeats (STRs), also known as microsatellites, have fewer than 10 repeats, while Minisatellites have 10-60 repeats. Variations in the number of these repeats can lead to genetic instability and are associated with various genetic disorders and diseases, including neurological disorders, cancer, and forensic identification.

It's worth noting that TRS can also occur in protein-coding regions of genes, leading to the production of repetitive amino acid sequences. These can affect protein structure and function, contributing to disease phenotypes.

Sarcoglycans are a group of proteins that are part of the dystrophin-glycoprotein complex in muscle cells. This complex helps to maintain the structural integrity of the muscle fiber by forming a link between the cytoskeleton and the extracellular matrix. Sarcoglycans are located on the surface of the muscle fiber and play a critical role in protecting the muscle from damage during contraction.

There are four main sarcoglycans, known as alpha, beta, gamma, and delta-sarcoglycan. Mutations in any one of these proteins can lead to a group of genetic disorders known as the sarcoglycanopathies, which are characterized by progressive muscle weakness and wasting. The most severe form of this disorder is called limb-girdle muscular dystrophy type 2C (LGMD2C), which is caused by mutations in the gamma-sarcoglycan gene.

In addition to their role in muscle cells, sarcoglycans have also been found to be expressed in other tissues, including the brain and the lungs, suggesting that they may have additional functions beyond their structural role in muscle.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The scapula, also known as the shoulder blade, is a flat, triangular bone located in the upper back region of the human body. It serves as the site of attachment for various muscles that are involved in movements of the shoulder joint and arm. The scapula has several important features:

1. Three borders (anterior, lateral, and medial)
2. Three angles (superior, inferior, and lateral)
3. Spine of the scapula - a long, horizontal ridge that divides the scapula into two parts: supraspinous fossa (above the spine) and infraspinous fossa (below the spine)
4. Glenoid cavity - a shallow, concave surface on the lateral border that articulates with the humerus to form the shoulder joint
5. Acromion process - a bony projection at the top of the scapula that forms part of the shoulder joint and serves as an attachment point for muscles and ligaments
6. Coracoid process - a hook-like bony projection extending from the anterior border, which provides attachment for muscles and ligaments

Understanding the anatomy and function of the scapula is essential in diagnosing and treating various shoulder and upper back conditions.

In anatomical terms, the shoulder refers to the complex joint of the human body that connects the upper limb to the trunk. It is formed by the union of three bones: the clavicle (collarbone), scapula (shoulder blade), and humerus (upper arm bone). The shoulder joint is a ball-and-socket type of synovial joint, allowing for a wide range of movements such as flexion, extension, abduction, adduction, internal rotation, and external rotation.

The shoulder complex includes not only the glenohumeral joint but also other structures that contribute to its movement and stability, including:

1. The acromioclavicular (AC) joint: where the clavicle meets the acromion process of the scapula.
2. The coracoclavicular (CC) ligament: connects the coracoid process of the scapula to the clavicle, providing additional stability to the AC joint.
3. The rotator cuff: a group of four muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) that surround and reinforce the shoulder joint, contributing to its stability and range of motion.
4. The biceps tendon: originates from the supraglenoid tubercle of the scapula and passes through the shoulder joint, helping with flexion, supination, and stability.
5. Various ligaments and capsular structures that provide additional support and limit excessive movement in the shoulder joint.

The shoulder is a remarkable joint due to its wide range of motion, but this also makes it susceptible to injuries and disorders such as dislocations, subluxations, sprains, strains, tendinitis, bursitis, and degenerative conditions like osteoarthritis. Proper care, exercise, and maintenance are essential for maintaining shoulder health and function throughout one's life.

Costameres are specialized structures found in muscle cells, specifically at the sarcolemma-sarcomere interface. The term "costamere" is derived from the Greek words "kosta," meaning coast or shore, and "meros," meaning part. These structures were first described by Dr. Seiji Ishikawa in 1981.

Costameres are composed of a network of proteins that connect the extracellular matrix to the contractile apparatus of muscle cells. They primarily consist of integrin complexes, vinculin, talin, and dystrophin-associated glycoprotein complex (DGC). Integrins, which are transmembrane receptors, connect the extracellular matrix to the cytoskeleton by interacting with intracellular proteins like talin and vinculin. The DGC, on the other hand, links the actin cytoskeleton to the sarcolemma, providing structural support and protection to muscle cells.

Costameres play a crucial role in maintaining the integrity of muscle fibers during contraction and force transmission. They also contribute to signaling pathways that regulate muscle cell growth, differentiation, and survival. Mutations or dysfunctions in costamere-associated proteins can lead to various muscular disorders, such as muscular dystrophies and myopathies.

Facial muscles, also known as facial nerves or cranial nerve VII, are a group of muscles responsible for various expressions and movements of the face. These muscles include:

1. Orbicularis oculi: muscle that closes the eyelid and raises the upper eyelid
2. Corrugator supercilii: muscle that pulls the eyebrows down and inward, forming wrinkles on the forehead
3. Frontalis: muscle that raises the eyebrows and forms horizontal wrinkles on the forehead
4. Procerus: muscle that pulls the medial ends of the eyebrows downward, forming vertical wrinkles between the eyebrows
5. Nasalis: muscle that compresses or dilates the nostrils
6. Depressor septi: muscle that pulls down the tip of the nose
7. Levator labii superioris alaeque nasi: muscle that raises the upper lip and flares the nostrils
8. Levator labii superioris: muscle that raises the upper lip
9. Zygomaticus major: muscle that raises the corner of the mouth, producing a smile
10. Zygomaticus minor: muscle that raises the nasolabial fold and corner of the mouth
11. Risorius: muscle that pulls the angle of the mouth laterally, producing a smile
12. Depressor anguli oris: muscle that pulls down the angle of the mouth
13. Mentalis: muscle that raises the lower lip and forms wrinkles on the chin
14. Buccinator: muscle that retracts the cheek and helps with chewing
15. Platysma: muscle that depresses the corner of the mouth and wrinkles the skin of the neck.

These muscles are innervated by the facial nerve, which arises from the brainstem and exits the skull through the stylomastoid foramen. Damage to the facial nerve can result in facial paralysis or weakness on one or both sides of the face.

Corneal dystrophies, hereditary are a group of genetic disorders that affect the cornea, which is the clear, outermost layer at the front of the eye. These conditions are characterized by the buildup of abnormal material in the cornea, leading to decreased vision, pain, or cloudiness in the eye.

There are many different types of corneal dystrophies, each affecting a specific layer of the cornea and having its own pattern of inheritance. Some common types include:

1. Fuchs' endothelial dystrophy: This affects the inner lining of the cornea (endothelium) and causes swelling and cloudiness in the cornea. It is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent has it.
2. Granular dystrophy: This affects the stroma, which is the middle layer of the cornea. It causes the formation of opaque, grayish-white deposits in the cornea that can affect vision. It is typically inherited in an autosomal dominant or recessive manner.
3. Lattice dystrophy: This also affects the stroma and is characterized by the formation of a lattice-like pattern of fine, whitish lines in the cornea. It is typically inherited in an autosomal dominant manner.
4. Macular dystrophy: This affects the central part of the cornea (macula) and can cause cloudiness, leading to decreased vision. It is typically inherited in an autosomal recessive manner.

Treatment for corneal dystrophies may include eyedrops, medications, or surgery, depending on the severity of the condition and its impact on vision. In some cases, a corneal transplant may be necessary to restore vision.

Dystroglycans are a type of protein that play a crucial role in the structure and function of the muscle membrane (sarcolemma). They are an essential component of the dystrophin-glycoprotein complex, which helps maintain the stability and integrity of the sarcolemma during muscle contraction and relaxation.

Dystroglycans consist of two subunits: alpha-dystroglycan and beta-dystroglycan. Alpha-dystroglycan is a large, heavily glycosylated protein that extends from the intracellular space to the extracellular matrix, where it interacts with various extracellular matrix proteins such as laminin and agrin. Beta-dystroglycan, on the other hand, spans the muscle membrane and binds to dystrophin, a cytoskeletal protein that helps maintain the structural integrity of the sarcolemma.

Mutations in genes encoding for proteins involved in the glycosylation of alpha-dystroglycan can lead to a group of genetic disorders known as congenital muscular dystrophies, which are characterized by muscle weakness, hypotonia, and developmental delays. These disorders include Walker-Warburg syndrome, Fukuyama congenital muscular dystrophy, and Muscle-Eye-Brain disease, among others.

Oculopharyngeal Muscular Dystrophy (OPMD) is a genetic disorder that affects the muscles, particularly those around the eyes and throat. The medical definition of OPMD, as per the National Organization for Rare Disorders (NORD), is:

"Oculopharyngeal Muscular Dystrophy (OPMD) is an inherited neuromuscular disorder characterized by progressive weakness of specific muscle groups, particularly those around the eyes (ocular) and throat (pharyngeal). The symptoms may include drooping of the eyelids (ptosis), difficulty swallowing (dysphagia), and, in some cases, proximal limb weakness. Onset of the disorder usually occurs in adulthood, typically after age 40, but earlier onsets have been reported."

The underlying cause of OPMD is a genetic mutation that leads to the production of an abnormal protein in muscle cells, ultimately resulting in muscle degeneration and weakness.

Muscle development, also known as muscle hypertrophy, refers to the increase in size and mass of the muscles through a process called myofiber growth. This is primarily achieved through resistance or strength training exercises that cause micro-tears in the muscle fibers, leading to an inflammatory response and the release of hormones that promote muscle growth. As the muscles repair themselves, they become larger and stronger than before. Proper nutrition, including adequate protein intake, and rest are also essential components of muscle development.

It is important to note that while muscle development can lead to an increase in strength and muscular endurance, it does not necessarily result in improved athletic performance or overall fitness. A well-rounded exercise program that includes cardiovascular activity, flexibility training, and resistance exercises is recommended for optimal health and fitness outcomes.

Utrophin is a protein that is found in muscle cells. It is similar in structure and function to dystrophin, which is a protein that is deficient or abnormal in people with Duchenne and Becker muscular dystrophy. Utrophin is present in both fetal and adult muscle, but its expression is usually limited to the nerve endings of the muscle fibers. However, in certain conditions such as muscle injury or disease, utrophin can be upregulated and expressed more widely throughout the muscle fiber. Research has shown that increasing the levels of utrophin in muscle cells could potentially compensate for the lack of dystrophin and provide a therapeutic approach to treating muscular dystrophy.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Skeletal muscle fibers, also known as striated muscle fibers, are the type of muscle cells that make up skeletal muscles, which are responsible for voluntary movements of the body. These muscle fibers are long, cylindrical, and multinucleated, meaning they contain multiple nuclei. They are surrounded by a connective tissue layer called the endomysium, and many fibers are bundled together into fascicles, which are then surrounded by another layer of connective tissue called the perimysium.

Skeletal muscle fibers are composed of myofibrils, which are long, thread-like structures that run the length of the fiber. Myofibrils contain repeating units called sarcomeres, which are responsible for the striated appearance of skeletal muscle fibers. Sarcomeres are composed of thick and thin filaments, which slide past each other during muscle contraction to shorten the sarcomere and generate force.

Skeletal muscle fibers can be further classified into two main types based on their contractile properties: slow-twitch (type I) and fast-twitch (type II). Slow-twitch fibers have a high endurance capacity and are used for sustained, low-intensity activities such as maintaining posture. Fast-twitch fibers, on the other hand, have a higher contractile speed and force generation capacity but fatigue more quickly and are used for powerful, explosive movements.

Homeodomain proteins are a group of transcription factors that play crucial roles in the development and differentiation of cells in animals and plants. They are characterized by the presence of a highly conserved DNA-binding domain called the homeodomain, which is typically about 60 amino acids long. The homeodomain consists of three helices, with the third helix responsible for recognizing and binding to specific DNA sequences.

Homeodomain proteins are involved in regulating gene expression during embryonic development, tissue maintenance, and organismal growth. They can act as activators or repressors of transcription, depending on the context and the presence of cofactors. Mutations in homeodomain proteins have been associated with various human diseases, including cancer, congenital abnormalities, and neurological disorders.

Some examples of homeodomain proteins include PAX6, which is essential for eye development, HOX genes, which are involved in body patterning, and NANOG, which plays a role in maintaining pluripotency in stem cells.

A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Repetitive sequences in nucleic acid refer to repeated stretches of DNA or RNA nucleotide bases that are present in a genome. These sequences can vary in length and can be arranged in different patterns such as direct repeats, inverted repeats, or tandem repeats. In some cases, these repetitive sequences do not code for proteins and are often found in non-coding regions of the genome. They can play a role in genetic instability, regulation of gene expression, and evolutionary processes. However, certain types of repeat expansions have been associated with various neurodegenerative disorders and other human diseases.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Fuchs' Endothelial Dystrophy is a medical condition that affects the eye's cornea. It is a slowly progressing disorder that causes the endothelium, a thin layer of cells lining the inner surface of the cornea, to deteriorate and eventually fail to function properly. This results in swelling of the cornea, leading to cloudy vision, distorted vision, and sensitivity to light.

The condition is typically inherited and tends to affect both eyes. It is more common in women than in men and usually becomes apparent after the age of 50. There is no cure for Fuchs' Endothelial Dystrophy, but treatments such as corneal transplantation can help improve vision and alleviate symptoms.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Thymopoietins are a group of hormone-like polypeptides that play a crucial role in the development and differentiation of T-lymphocytes (T-cells) within the thymus gland. The term "thymopoietin" is often used to refer specifically to a particular polypeptide called thymopoietin alpha, which was first identified in the 1970s. Thymopoietin alpha helps to promote the differentiation of immature T-cells into mature T-cells, and it also contributes to the process of negative selection, whereby self-reactive T-cells are eliminated to prevent autoimmune disorders.

Other factors that contribute to thymopoiesis (the production of T-cells in the thymus) may also be referred to as thymopoietins, including interleukin-7 (IL-7), which is produced by stromal cells in the thymus and helps to support the survival and proliferation of immature T-cells.

Overall, thymopoietins play a critical role in maintaining immune homeostasis and preventing the development of autoimmune diseases.

A telomere is a region of repetitive DNA sequences found at the end of chromosomes, which protects the genetic data from damage and degradation during cell division. Telomeres naturally shorten as cells divide, and when they become too short, the cell can no longer divide and becomes senescent or dies. This natural process is associated with aging and various age-related diseases. The length of telomeres can also be influenced by various genetic and environmental factors, including stress, diet, and lifestyle.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Retinal dystrophies are a group of genetic eye disorders that primarily affect the retina, a light-sensitive layer at the back of the eye. These conditions are characterized by progressive degeneration and death of photoreceptor cells (rods and cones) in the retina, leading to vision loss.

The term "dystrophy" refers to a condition that results from the abnormal or defective development and function of tissues or organs. In the case of retinal dystrophies, the photoreceptor cells do not develop or function properly, resulting in visual impairment.

Retinal dystrophies can present at any age, from infancy to adulthood, and can have varying degrees of severity. Some common symptoms include night blindness, decreased visual acuity, loss of peripheral vision, light sensitivity, and color vision abnormalities.

Examples of retinal dystrophies include retinitis pigmentosa, Stargardt disease, Usher syndrome, and Leber congenital amaurosis, among others. These conditions are typically inherited and can be caused by mutations in various genes that play a role in the development and function of the retina.

There is currently no cure for retinal dystrophies, but research is ongoing to develop treatments that may slow or halt the progression of these conditions, such as gene therapy and stem cell transplantation.

Collagen Type VI is a type of collagen that is widely expressed in various tissues, including skeletal muscle, skin, and blood vessels. It is a major component of the extracellular matrix and plays important roles in maintaining tissue structure and function. Collagen Type VI forms microfilaments that provide structural support to the basement membrane and regulate cell-matrix interactions. Mutations in the genes encoding collagen Type VI can lead to several inherited connective tissue disorders, such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

Dystrophin-associated proteins (DAPs) are a group of structural and functional proteins that interact with dystrophin, a cytoskeletal protein found in muscle cells. Dystrophin helps to maintain the integrity of the muscle fiber membrane, or sarcolemma, during contractions. The dystrophin-associated protein complex (DAPC) includes dystroglycans, sarcoglycans, syntrophins, and dystrobrevins, among others.

Mutations in genes encoding DAPs can lead to various forms of muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. For example, mutations in the sarcoglycan gene can cause limb-girdle muscular dystrophy type 2C (LGMD2C), while defects in dystroglycan can result in congenital muscular dystrophy with mental retardation and structural brain abnormalities.

In summary, DAPs are a group of proteins that interact with dystrophin to maintain the stability and function of muscle fibers. Defects in these proteins can lead to various forms of muscular dystrophy.

Sarcolemma is the medical term for the cell membrane that surrounds a muscle fiber or a skeletal muscle cell. It is responsible for providing protection and structure to the muscle fiber, as well as regulating the movement of ions and other molecules in and out of the cell. The sarcolemma plays a crucial role in the excitation-contraction coupling process that allows muscles to contract and relax.

The sarcolemma is composed of two main layers: the outer plasma membrane, which is similar to the cell membranes of other cells, and the inner basal lamina, which provides structural support and helps to anchor the muscle fiber to surrounding tissues. The sarcolemma also contains various ion channels, receptors, and transporters that are involved in regulating muscle function and communication with other cells.

Damage to the sarcolemma can lead to a variety of muscle disorders, including muscular dystrophy and myasthenia gravis.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Creatine kinase (CK) is a muscle enzyme that is normally present in small amounts in the blood. It is primarily found in tissues that require a lot of energy, such as the heart, brain, and skeletal muscles. When these tissues are damaged or injured, CK is released into the bloodstream, causing the levels to rise.

Creatine kinase exists in several forms, known as isoenzymes, which can be measured in the blood to help identify the location of tissue damage. The three main isoenzymes are:

1. CK-MM: Found primarily in skeletal muscle
2. CK-MB: Found primarily in heart muscle
3. CK-BB: Found primarily in the brain

Elevated levels of creatine kinase, particularly CK-MB, can indicate damage to the heart muscle, such as occurs with a heart attack. Similarly, elevated levels of CK-BB may suggest brain injury or disease. Overall, measuring creatine kinase levels is a useful diagnostic tool for assessing tissue damage and determining the severity of injuries or illnesses.

Muscle proteins are a type of protein that are found in muscle tissue and are responsible for providing structure, strength, and functionality to muscles. The two major types of muscle proteins are:

1. Contractile proteins: These include actin and myosin, which are responsible for the contraction and relaxation of muscles. They work together to cause muscle movement by sliding along each other and shortening the muscle fibers.
2. Structural proteins: These include titin, nebulin, and desmin, which provide structural support and stability to muscle fibers. Titin is the largest protein in the human body and acts as a molecular spring that helps maintain the integrity of the sarcomere (the basic unit of muscle contraction). Nebulin helps regulate the length of the sarcomere, while desmin forms a network of filaments that connects adjacent muscle fibers together.

Overall, muscle proteins play a critical role in maintaining muscle health and function, and their dysregulation can lead to various muscle-related disorders such as muscular dystrophy, myopathies, and sarcopenia.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

"Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy ... Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause ... putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy. Prognosis is ... Huml, Raymond A.; Perez, Daniel P. (2015). "FSHD: The Most Common Type of Muscular Dystrophy?". Muscular Dystrophy. pp. 9-19. ...
Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and ... Fukuyama congenital muscular dystrophy Muscle hypertrophy Muscular Dystrophy UK Muscular Dystrophy Association (United States) ... Muscular Dystrophy Canada Spinal muscular atrophies "NINDS Muscular Dystrophy Information Page". NINDS. March 4, 2016. Archived ... "Duchenne Muscular Dystrophy. What is muscular dystrophy? , Patient". Patient.info. 2016-04-15. Archived from the original on ...
Wagner, Kathryn R. (December 2019). "Facioscapulohumeral Muscular Dystrophies". CONTINUUM: Lifelong Learning in Neurology. 25 ( ... causes euchromatization of local DNA and is the predominant cause of facioscapulohumeral muscular dystrophy (FSHD). Other ...
LRIF1 has been shown to interact with SMCHD1 protein, mutation of which causes facioscapulohumeral muscular dystrophy type 2 ( ... May 2020). "LRIF1 associated with facioscapulohumeral muscular dystrophy". Neurology. 94 (23): e2441-e2447. doi:10.1212/WNL. ...
A pertinent example is facioscapulohumeral muscular dystrophy (FSHD), which commonly affects the trapezius, causing a need for ... "Muscle MRI findings in facioscapulohumeral muscular dystrophy". European Radiology. 26 (3): 693-705. doi:10.1007/s00330-015- ... Muscular dystrophy often contraindicates tendon transfer, because the muscles transferred are either dystrophic or capable of ...
suggest that human facioscapulohumeral muscular dystrophy results from overexpression of FRG1 in "skeletal muscle, which leads ... 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973-7. Bibcode:2006Natur.439.. ... Fisher J, Upadhyaya M (1997). "Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscul. Disord. 7 (1 ... Mice that overexpress FRG1 display facioscapulohumeral muscular dystrophy. Gabellili et al. ...
"A unifying genetic model for facioscapulohumeral muscular dystrophy". Science. 329 (5999): 1650-3. Bibcode:2010Sci...329.1650L ... leukemia Congenital central hypoventilation syndrome Ellis-Van Creveld syndrome Facioscapulohumeral muscular dystrophy ...
October 2012). "Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a ... Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD). This gene is located within a D4Z4 ... Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy (FSHD). Overexpression ... Schätzl, T; Kaiser, L; Deigner, HP (12 March 2021). "Facioscapulohumeral muscular dystrophy: genetics, gene activation and ...
In a study of 13 individuals with facioscapulohumeral muscular dystrophy (FSHD), none of the individuals complained of pain. ... When tendon transfer is not feasible, such as in the case of muscular dystrophy or multiple muscular deficits, remaining ... "Fixation of winged scapula in facioscapulohumeral muscular dystrophy". Clinical Medicine & Research. 5 (3): 155-62. doi:10.3121 ... "Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review". Shoulder & Elbow. 12 (2): ...
It has been used in patients with duchenne muscular dystrophy (DMD) and facioscapulohumeral muscular dystrophy (FSHD). Han, JJ ... "Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by Kinect". Muscle & Nerve. 51 (2): 168-75. doi:10.1002/ ...
Facioscapulohumeral muscular dystrophy has a similar muscle involvement pattern. Following diagnosis, extent of disease should ... Emery-Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive ... "Emery-Dreifuss muscular dystrophy". Emery AE, Dreifuss FE (1966). "Unusual type of benign x-linked muscular dystrophy". J. ... Emery-Dreifuss muscular dystrophy can be sub-classified by pattern of inheritance: X-linked, autosomal dominant, and autosomal ...
12 July 2019). "P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy". bioRxiv: 700195. doi:10.1101/ ... "Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)". ClinicalTrials.gov. United ... is an investigational drug being developed by Fulcrum Therapeutics for the treatment of facioscapulohumeral muscular dystrophy ... "Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) (FSHD)" at ClinicalTrials.gov ...
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Dangl has a rare form of muscular dystrophy, facioscapulohumeral muscular dystrophy. Dangl is married to biologist Sarah Grant ...
... disease is a rare extramuscular manifestation of facioscapulohumeral muscular dystrophy (FSHD). A single study reported it in 1 ... Statland JM1, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R. Coats syndrome in facioscapulohumeral dystrophy type ...
... facioscapulohumeral muscular dystrophy, and myotonic dystrophy. The genetics of LGMDs began to be understood in the late 1900s ... Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of ... Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy, and manifesting dystrophinopathy in ... myotonic dystrophies, and facioscapulohumeral muscular dystrophy. The prevalence of individual LGMDs, as studied in the United ...
Facioscapulohumeral muscular dystrophy - even though there is not a clear correlation between the facioscapulohumeral muscular ... Stübgen, J (2008). "Facioscapulohumeral Muscular Dystrophy: A Radiologic and Manometric Study of the Pharynx and Esophagus" ( ... dystrophy and the pharyngeal and upper aesophageal striated muscle. Minor, and nonspecific, primary aesophageal dysmotility was ...
Causes include spinal cord injury, amyotrophic lateral sclerosis (ALS), and facioscapulohumeral muscular dystrophy (FSHD). The ... and in facioscapulohumeral muscular dystrophy (FSHD), a disease named after areas of the body it preferentially weakens (face, ... Awerbuch GI, Nigro MA, Wishnow R (November 1990). "Beevor's sign and facioscapulohumeral dystrophy". Arch. Neurol. 47 (11): ...
The trapezius muscle is one of the commonly affected muscles in facioscapulohumeral muscular dystrophy (FSHD). The lower and ... doi:10.1097/00003086-199911000-00003 "Evaluation and Management of Scapular Winging due to Facioscapulohumeral dystrophy (FSH ... with muscular attachments shown in red Trapezius muscle. Occipital bone. Left clavicle. Superior surface. Left scapula. ...
... in particular neurofibromatosis type I and facioscapulohumeral muscular dystrophy. Upadhyaya was born in India. She entered an ... especially neurofibromatosis type I and facioscapulohumeral muscular dystrophy. She was involved in identifying the genetic ... she authored more than 200 scientific articles and four textbooks and received awards from the Muscular Dystrophy Association ( ...
In December 2017, Hoffmann announced that he had been diagnosed with facioscapulohumeral muscular dystrophy (FSHD). In the days ... Church, Ben (April 15, 2022). "Morgan Hoffmann, diagnosed with muscular dystrophy, returns to competitive golf for first time ... Sobel, Jason (December 6, 2017). "Golfer Morgan Hoffmann diagnosed with muscular dystrophy". ESPN. Inglis, Martin (December 5, ... 2017). "Pros support Morgan Hoffmann after muscular dystrophy diagnosis". bunkered. ...
Poly hill sign: Poly Hill Sign, the second of the signs Pradhan discovered related to facioscapulohumeral muscular dystrophy( ... Pradhan, S (June 2004). "Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy". ... and the others associated with facioscapulohumeral muscular dystrophy (FSHD) and similar neuro diseases. The Government of ... He has also described five medical signs, of which one related to Duchenne muscular dystrophy is known as Pradhan Sign, ...
Wilson was diagnosed with a subtype of muscular dystrophy called facioscapulohumeral muscular dystrophy at age 32. He has ...
Shorter suffered from facioscapulohumeral muscular dystrophy, which he inherited from his father, and borderline personality ...
Scapular winging due to facioscapulohumeral muscular dystrophy can be treated with a scapulopexy or scapulothoracic fusion. ... This replaces the missing bone and the transferred muscle also acts as an additional muscular strut preventing further ...
Facioscapulohumeral muscular dystrophy (FSHD) can present similarly, although facial weakness and asymetrical weakness is ... Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). It preferentially affects ... Articles with short description, Short description is different from Wikidata, Muscular dystrophy, Enzyme defects, Autosomal ... "Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy". Molecular Therapy: Methods & Clinical ...
The trial's participants included people afflicted with Facioscapulohumeral muscular dystrophy, Becker's muscular dystrophy, ... May 2008). "A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy". Annals of Neurology. 63 (5): 561-71. doi: ... Wyeth Analyzing MYO-029 Results Archived 2013-04-15 at archive.today, Muscular Dystrophy Association announcement, December 4, ... "Wyeth Initiates Clinical Trial with Investigational Muscular Dystrophy Therapy MYO-029". www.medicalnewstoday.com (Press ...
Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia ... "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type ... February 2017). "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia ...
... gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes". Neuromuscular Disorders. 9 (1): 3-10. doi: ...
... committed to the treatment and cure of facioscapulohumeral muscular dystrophy. In 2009, he was instrumental in establishing the ...
"Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy ... Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause ... putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy. Prognosis is ... Huml, Raymond A.; Perez, Daniel P. (2015). "FSHD: The Most Common Type of Muscular Dystrophy?". Muscular Dystrophy. pp. 9-19. ...
We report here a case of a 20-year-old woman with facioscapulohumeral muscular dystrophy (FSHD). In this patient, the ... Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy Brain Dev. 2007 May;29(4):231-3. doi: ... We report here a case of a 20-year-old woman with facioscapulohumeral muscular dystrophy (FSHD). In this patient, the ... This entity should be included in the differential diagnoses for patients with muscular symptoms and accompanying mental ...
Facioscapulohumeral muscular dystrophy (FSHD) results from expression of the full-length double homeobox 4 (DUX4-FL) retrogene ... Its not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy. ... Its not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy. ...
Becker muscular dystrophy , which affect the lower body. Duchenne muscular dystrophy. Duchenne muscular dystrophy is an ... Facioscapulohumeral muscular dystrophy affects the upper body. It is not the same as Duchenne muscular dystrophy and ... Becker muscular dystrophy. Becker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of ... Facioscapulohumeral muscular dystrophy is a genetic disorder. It appears in both men and women. It may develop in a child if ...
Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic ...
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 ... Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult-onset muscular dystrophy characterized by muscle weakness ... The muscle disease facioscapulohumeral muscular dystrophy (FSHD) is caused by the loss of the chemical tags that normally keep ... 2011) DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo Annals of ...
... is a debilitating genetic disorder affecting the facial, shoulders, and upper ... It is one of the most common forms of muscular dystrophy, a group of inherited conditions that cause progressive muscle ...
ABSTRACT Facioscapulohumeral Muscular Dystrophy isa common form of muscular dystrophy that presents clinically with progressive ... Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive ... Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics 5: 601‐606, 2008.. 236.. Tawil R , Forrester J , Griggs R , ... Liu Q , Jones TI , Tang VW , Brieher WM , Jones PL . Facioscapulohumeral muscular dystrophy region gene‐1 (FRG‐1) is an actin‐ ...
... Lu JR, Yao ZJ, Yang Y, Zhang C, Zhang J, Zhang Y ... Facioscapulohumeral muscular dystrophy (FSHD) also known as Landouzy-Dejerine disease, is an autosomal-dominant disorder of the ... KEYWORDS: Facioscapulohumeral muscular dystrophy, Landouzy-Dejerine disease, clinical manifestations, management, surgical ...
Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central ... Facioscapulohumeral Muscular Dystrophy. In 2015, the AAN and the American Association of Neuromuscular & Electrodiagnostic ... Congenital Muscular Dystrophy. In 2010, the International Standard of Care Committee for Congenital Muscular Dystrophy ... encoded search term (Muscular Dystrophy) and Muscular Dystrophy What to Read Next on Medscape ...
Get Involved in the fight to cure FSHD muscular dystrophy. Newly or recently diagnosed? Please contact us to - Volunteer - Join ... FSH Muscular Dystrophy is different for everyone. Each person has their own unique journey with FSHD. The FSHD Society is here ... FSHD University is your center for learning about the art and science of living with FSH muscular dystrophy. Our webinars and ... having muscular dystrophy was the farthest thing from my thoughts. The medical community was still evolving in its knowledge of ...
Facioscapulohumeral Muscular Dystrophy - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals ... muscular dystrophy Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Duchenne muscular dystrophy and Becker muscular ... Facioscapulohumeral Muscular Dystrophy (Landouzy-Dejerine Muscular Dystrophy). By Michael Rubin , MDCM, New York Presbyterian ... Facioscapulohumeral muscular dystrophy is the most prevalent type of muscular dystrophy. Most cases manifest by age 20. It is ...
Find out how Facioscapulohumeral muscular dystrophy (FSHD) is diagnosed and how MDUK can support you. ... 2023 Muscular Dystrophy UK Registered Charity No. 205395 Scottish Registered Charity No. SC039445 ... Duchenne muscular dystrophy * Facioscapulohumeral muscular dystrophy * Inclusion body myositis * Limb girdle muscular dystrophy ...
755-760Estimation of age dependent penetrance in facioscapulohumeral muscular dy... ... facioscapulohumeral muscular dystrophy by minimising ascertainment bias. Journal of Medical Genetics 1989, 26, 755-760 ... For facioscapulohumeral muscular dystrophy (FSHD), using this approach, and based on the presence or absence of characteristic ... Facioscapulohumeral Muscular Dystrophy: A Radiologic and Manometric Study of the Pharynx and Esophagus ...
Facioscapulohumeral muscular dystrophy (FSHD) is a disease characterised by death of muscle cells and tissue leading to ... Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle wasting disease ... For further information, please visit the FSHD Global Research Foundation, Muscular Dystrophy Australia or consult your medical ...
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD ... Facioscapulohumeral muscular dystrophy (FSHD) is an inherited and progressive muscle disorder. Although its name suggests ... Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic ... Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. M ...
Muscular Dystrophy and Eye Defects (Science Candy post April 2009) photo by Look Into My Eyes. Facioscapulohumeral muscular ... In this blog Facioscapulohumeral Muscular Dystrophy is referred to by the following: FSH, FSHD, or Facioscapulohumeral MD.. ... Facioscapulohumeral Muscular Dystrophy. Pacific Northwest Friends of FSH Research. Mission - To increase the funding available ... to research Facioscapulohumeral Muscular Dystrophy in the hopes of finding a treatment or cure for this disabling condition.. ...
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD ... Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic ... Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. M ... Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. ...
FSU researchers use gene editing to tackle facioscapulohumeral muscular dystrophy. Published: July 28, 2021. , 8:08 am , SHARE ... Home / Multimedia / Radio Stories / FSU researchers use gene editing to tackle facioscapulohumeral muscular dystrophy ...
Duchenne muscular dystrophy. Facioscapulohumeral muscular dystrophy. Erb limb-girdle dystrophy. Myotonic dystrophy ...
Facioscapulohumeral Muscular Dystrophy The symptoms of FSH dystrophy may appear during childhood with severe facial and limb ...
Duchenne muscular dystrophy (inherited disease that involves muscle weakness). *Facioscapulohumeral muscular dystrophy ( ... Becker muscular dystrophy (muscle weakness of the legs and pelvis). *Brachial plexopathy (problem affecting the set of nerves ... Myopathy (muscle degeneration caused by a number of disorders, including muscular dystrophy) ...
facioscapulohumeral muscular dystrophy. * retinopathy of prematurity (ROP). * retinal hemangioblastomas (von Hippel-Lindau ...
SOLVE FSHD Announces New Collaborative Research Grants to Accelerate Novel Potential Therapeutics for Facioscapulohumeral ... Muscular Dystrophy (FSHD) VANCOUVER, B.C., July 11, 2023 - SOLVE FSHD, a venture philanthropy organization catalyzing ... New Collaborative Research Grants to Accelerate Novel Potential Therapeutics for Facioscapulohumeral Muscular Dystrophy (FSHD) ... Collaborative Research Grants to Accelerate Novel Potential Therapeutics for Facioscapulohumeral Muscular Dystrophy (FSHD) ...
Epic Bio Presents Preclinical Data on EPI-321 for Facioscapulohumeral Muscular Dystrophy at ASGCT 26th Annual Meeting. *Oral ... Epic Bio has an initial focus on facioscapulohumeral muscular dystrophy (FSHD) and is conducting additional research to address ... has granted Orphan Drug Designation to EPI-321 for the treatment of facioscapulohumeral muscular dystrophy (FSHD), the most ... promising preclinical data supporting development of EPI-321 for the treatment of facioscapulohumeral muscular dystrophy (FSHD ...
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.. Erdmann, Hannes; Scharf ... Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be ... detected by standard sequencing methods despite being the third most common muscular dystrophy. The conventional diagnostic ...
Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Protocol for an observational ... REFERNCE: Statland JM, Tawil R. Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn). 2016;22(6, Muscle and ... This project is significant in that FSHD is a common muscular dystrophy and results can have a direct and immediate impact on ... The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization. ...
6. Facioscapulohumeral Muscular Dystrophy Late Stage Products (Phase-III). 7. Facioscapulohumeral Muscular Dystrophy Mid-Stage ... Facioscapulohumeral Muscular Dystrophy Overview:. Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by ... Facioscapulohumeral Muscular Dystrophy Therapeutic Assessment:. Some of the Facioscapulohumeral Muscular Dystrophy (FSHD) drugs ... 8. Facioscapulohumeral Muscular Dystrophy Early Stage Products (Phase-I). 9. Facioscapulohumeral Muscular Dystrophy Pre- ...
Liu, Q., Jones, T. I., Tang, V. W., Brieher, W. M., & Jones, P. L. (2010). Facioscapulohumeral muscular dystrophy region gene-1 ... Liu, Q, Jones, TI, Tang, VW, Brieher, WM & Jones, PL 2010, Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an ... Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment ... Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment ...
  • Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. (wikipedia.org)
  • FSHD affects up to 1 in 8,333 people, putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy. (wikipedia.org)
  • FSHD was first distinguished as a disease in the 1870s and 1880s when French physicians Louis Théophile Joseph Landouzy and Joseph Jules Dejerine followed a family affected by it, thus the initial name Landouzy-Dejerine muscular dystrophy. (wikipedia.org)
  • We report here a case of a 20-year-old woman with facioscapulohumeral muscular dystrophy (FSHD). (nih.gov)
  • Facioscapulohumeral muscular dystrophy (FSHD) results from expression of the full-length double homeobox 4 (DUX4-FL) retrogene in skeletal muscle. (jci.org)
  • Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). (bmj.com)
  • Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of the DUX4 retrogene. (elifesciences.org)
  • The muscle disease facioscapulohumeral muscular dystrophy (FSHD) is caused by the loss of the chemical tags that normally keep certain genes switched off in many cell types. (elifesciences.org)
  • Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic disorder affecting the facial, shoulders, and upper arms muscles. (saeedanwar.net)
  • Facioscapulohumeral muscular dystrophy (FSHD) also known as Landouzy-Dejerine disease, is an autosomal-dominant disorder of the skeletal muscles with the name according to the various muscle groups it affects: the face, shoulders and upper arms. (irdrjournal.com)
  • FSHD University is your center for learning about the art and science of living with FSH muscular dystrophy. (fshdsociety.org)
  • Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle wasting disease that weakens the face, arm and shoulders. (edu.au)
  • For further information, please visit the FSHD Global Research Foundation , Muscular Dystrophy Australia or consult your medical specialist. (edu.au)
  • Facioscapulohumeral muscular dystrophy (FSHD) is an inherited and progressive muscle disorder. (bmj.com)
  • Facioscapulohumeral muscular dystrophy (FSHD) is a degenerative disease causing the weakening of muscles in the face, shoulders, and upper arms. (fshfriends.org)
  • In this blog Facioscapulohumeral Muscular Dystrophy is referred to by the following: FSH, FSHD, or Facioscapulohumeral MD. (fshfriends.org)
  • SOUTH SAN FRANCISCO, Calif. - May 19, 2023 - Epic Bio, a biotechnology company developing therapies to modulate gene expression using compact, non-cutting dCas proteins, today presented promising preclinical data supporting development of EPI-321 for the treatment of facioscapulohumeral muscular dystrophy (FSHD). (epic-bio.com)
  • Epic Bio has an initial focus on facioscapulohumeral muscular dystrophy (FSHD) and is conducting additional research to address alpha-1 antitrypsin deficiency (A1AD), heterozygous familial hypercholesterolemia (HeFH), as well as other indications. (epic-bio.com)
  • The U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation to EPI-321 for the treatment of facioscapulohumeral muscular dystrophy (FSHD), the most common form of muscular dystrophy in adults. (epic-bio.com)
  • Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy . (bvsalud.org)
  • Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Protocol for an observational study. (mdaconference.org)
  • BACKGROUND: FSHD is a dominantly inherited, slowly progressive muscular dystrophy with clinical variability between individuals with the same mutation, between generations, and even in a single individual from one side of the body to another. (mdaconference.org)
  • This project is significant in that FSHD is a common muscular dystrophy and results can have a direct and immediate impact on patient care, on our understanding of FSHD, and on the design of clinical trials in FSHD. (mdaconference.org)
  • Facioscapulohumeral Muscular Dystrophy (FSHD) Pipeline Insight, 2023 " report by DelveInsight outlines comprehensive insights into the present clinical development scenario and growth prospects across the Facioscapulohumeral Muscular Dystrophy Market. (gandhinagarnews.org)
  • Promising Facioscapulohumeral Muscular Dystrophy (FSHD) drugs covered in the report include Losmapimod, GBC0905, Targets CK1, EPI-321, AOC 1020, and many others. (gandhinagarnews.org)
  • Currently, there are no specific therapeutic cures for Facioscapulohumeral Muscular Dystrophy (FSHD). (gandhinagarnews.org)
  • Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy). (gandhinagarnews.org)
  • In vertebrates, overexpression of facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) recapitulates the pathophysiology exhibited by FSHD patients, although the role of FRG1 in FSHD remains controversial and no precise function for FRG1 has been described in any organism. (illinois.edu)
  • Silencing the expression of the double homeobox 4 ( DUX4 ) gene offers great potential for the treatment of facioscapulohumeral muscular dystrophy (FSHD). (mdpi.com)
  • Here, we choose facioscapulohumeral dystrophy (FSHD) as a model to determine whether or not targeting key 3' end elements involved in mRNA processing using antisense oligonucleotide drugs can be used as a strategy for gene silencing within a potentially therapeutic context. (nih.gov)
  • The mechanism and function of heterochromatin disruption in FSHD muscular dystrophy is another area of research, in which we perform single cell/nucleus analyses to isolate and characterize a small number of disease-driving cells and are developing 3D and tissue on a chip to measure intrinsic defects of FSHD and CRISPR-engineered mutant myocytes. (uci.edu)
  • Diagnosis of facioscapulohumeral muscular dystrophy is indicated by characteristic clinical findings, age at onset, and family history and is confirmed by DNA testing. (msdmanuals.com)
  • Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. (msdmanuals.com)
  • Duchenne muscular dystrophy is an inherited disorder. (stlukes-stl.com)
  • Becker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis. (stlukes-stl.com)
  • It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophy , which affect the lower body. (stlukes-stl.com)
  • Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
  • Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. (msdmanuals.com)
  • The Facioscapulohumeral Muscular Dystrophy Pipeline report embraces in-depth commercial and clinical assessment of the pipeline products from the pre-clinical developmental phase to the marketed phase. (gandhinagarnews.org)
  • June 21, 2023 - Notice of Intent to Publish a Funding Opportunity Announcement for Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRC) (P50 Clinical Trial Optional). (nih.gov)
  • These Centers promote collaborative basic, translational, and clinical research and provide important resources that can be used by the national muscular dystrophy research communities. (nih.gov)
  • 2023). Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy. (cdc.gov)
  • Facioscapulohumeral Muscular Dystrophy key companies involved in targeted therapeutics development with respective active and inactive (dormant or discontinued) projects. (gandhinagarnews.org)
  • This entity should be included in the differential diagnoses for patients with muscular symptoms and accompanying mental retardation. (nih.gov)
  • The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing the eyes, moving the face, lifting objects or walking. (kennedykrieger.org)
  • Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)
  • The approval of the emerging therapies will be a milestone for patients who have been suffering from Facioscapulohumeral Muscular Dystrophy. (gandhinagarnews.org)
  • It accesses the Different therapeutic candidates segmented into early-stage, mid-stage, and late-stage of development for the Facioscapulohumeral Muscular Dystrophy Treatment . (gandhinagarnews.org)
  • Facioscapulohumeral muscular dystrophy is a genetic disorder. (stlukes-stl.com)
  • Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. (bvsalud.org)
  • Facioscapulohumeral muscular dystrophy affects the upper body. (stlukes-stl.com)
  • Facioscapulohumeral muscular dystrophy affects about 5 out of 100,000 people. (stlukes-stl.com)
  • Facioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. (stlukes-stl.com)
  • Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. (medscape.com)
  • Mission - To increase the funding available to research Facioscapulohumeral Muscular Dystrophy in the hopes of finding a treatment or cure for this disabling condition. (fshfriends.org)
  • The report provides detailed insights about companies that are developing therapies for the treatment of Facioscapulohumeral Muscular Dystrophy with aggregate therapies developed by each company for the same. (gandhinagarnews.org)
  • Several key companies are developing therapies for the treatment of Facioscapulohumeral Muscular Dystrophy. (gandhinagarnews.org)
  • It is one of the most common forms of muscular dystrophy, a group of inherited conditions that cause progressive muscle weakness and wasting. (saeedanwar.net)
  • Image courtesy of Steven Moore, Wellstone Muscular Dystrophy Cooperative Research Center, University of Iowa. (comprehensivephysiology.com)
  • Supporting research into Facioscapulohumeral Muscular Dystrophy. (fshfriends.org)
  • The institution of Dr. Nicolau has received research support from Muscular Dystrophy association. (aan.com)
  • The purpose of this Funding Opportunity Announcement (FOA) is to publicize a competition for Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs). (nih.gov)
  • The Centers also provide outstanding environments for the training of new researchers capable of addressing high priority objectives in muscular dystrophy research. (nih.gov)
  • A goal of this Centers program is to support important and innovative research in the muscular dystrophies that is best pursued through this interdisciplinary and collaborative center environment, and projects that may not be as effective if supported by "stand-alone" research project grants. (nih.gov)
  • The Centers also provide outstanding environments for the training of new scientists electing to pursue careers conducting research in high priority areas of muscular dystrophy. (nih.gov)
  • Facioscapulohumeral Muscular Dystrophy Drugs under development based on the stage of development, route of administration, target receptor, monotherapy or combination therapy, a different mechanism of action, and molecular type. (gandhinagarnews.org)
  • Facioscapulohumeral muscular dystrophy is the most prevalent type of muscular dystrophy. (msdmanuals.com)
  • Facioscapulohumeral muscular dystrophy is characterized by weakness of the facial muscles and shoulder girdle. (msdmanuals.com)
  • Journal of Medical Genetics 1989, 26, 755-760 Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertai. (kipdf.com)
  • Myotonic dystrophy is the most common muscular dystrophy in adults but can also affect newborns and children. (healthychildren.org)
  • Newborns with myotonic dystrophy have low muscle tone and weakness at birth and typically need support for breathing and feeding. (healthychildren.org)
  • People with childhood-onset myotonic dystrophy may have learning or cognitive issues as their primary symptom and later develop muscle weakness and myotonia. (healthychildren.org)
  • Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. (msdmanuals.com)
  • Becker dystrophy. (msdmanuals.com)
  • Becker-type muscular dystrophy is clinically similar but milder, with onset in the teenage years or early 20s. (bmj.com)
  • Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. (nih.gov)
  • The most common types of muscular dystrophies in children are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) . (healthychildren.org)
  • Becker muscular dystrophy (BMD) generally has less severe muscle weakness, later onset and slower, less predictable progression. (healthychildren.org)
  • The Muscular Dystrophy Family Foundation was founded in 1958 by four fathers of sons with Duchenne muscular dystrophy throughout the state of Indiana, and-since 1994-our scope expanded to help Hoosiers with all forty-three neuromuscular diseases, including Duchenne muscular dystrophy, Charcot-Marie-Tooth disease, ALS (Lou Gehrig's disease), Limb-Girdle muscular dystrophy, Becker muscular dystrophy, Myotonia, Myasthenia Gravis, and Facioscapulohumeral. (mdff.org)
  • P.L. 107-84) authorized the establishment of the Muscular Dystrophy Coordinating Committee (MDCC) to coordinate activities across the National Institutes of Health (NIH) and with other Federal health programs and activities relevant to the various forms of muscular dystrophy. (nih.gov)
  • The MDCC is a Congressionally mandated committee designed to coordinate research activities across NIH and with other Federal health programs and activities relating to the various forms of muscular dystrophy, including Duchenne, myotonic, facioscapulohumeral muscular dystrophy and other forms of muscular dystrophy. (nih.gov)
  • What are the types of muscular dystrophy (MD)? (nih.gov)
  • The purpose of this meeting is to bring together the committee members to update one another on individual agency efforts and to discuss planning for revision of the Action Plan for the Muscular Dystrophies. (nih.gov)
  • Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4 . (medlineplus.gov)
  • Facioscapulohumeral muscular dystrophy is a genetic disease due to a chromosome mutation. (adam.com)
  • Muscular dystrophy (MD) refers to a group of genetic diseases that cause progressive weakness and degeneration of skeletal muscles. (nih.gov)
  • Because of these overlapping symptoms and the prevalence of MD with no known, genetic cause (sporadic MD) muscular dystrophycan be difficult to quickly diagnose. (nih.gov)
  • Using protein studies and gene studies it is possible in the majority of cases to establish the precise diagnosis of a particular type of dystrophy, and thus provide a prognosis as well as genetic counselling and a reliable prenatal diagnosis. (bmj.com)
  • The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. (childneurologyfoundation.org)
  • Muscular dystrophy (MD) is a group of more than 30 genetic diseases . (nih.gov)
  • Muscular dystrophies are genetic muscle disorders which cause progressive muscle weakness. (healthychildren.org)
  • Cure CMD's mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. (childneurologyfoundation.org)
  • Congenital muscular dystrophies, which are present at birth or before age 2. (nih.gov)
  • Congenital muscular dystrophies (NGS panel for 31 genes). (mendelian.co)
  • Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). (medlineplus.gov)
  • The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. (medlineplus.gov)
  • Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing. (medlineplus.gov)
  • Facioscapulohumeral muscular dystrophy is a condition that causes muscle weakness and loss of muscle tissue that gets worse over time. (adam.com)
  • Facioscapulohumeral muscular dystrophy is one of the most common forms of muscle dystrophy affecting 1 in 15,000 to 1 in 20,000 adults in the United States. (adam.com)
  • Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement. (medscape.com)
  • A unifying feature of the dystrophies is the histological analysis of muscle samples which typically includes variations in fibre size, areas of muscle necrosis, and, ultimately, increased amounts of fat and connective tissue. (bmj.com)
  • It can provide characterized facioscapulohumeral muscular dystrophy cells and control muscle cells to labs studying facioscapulohumeral muscular dystrophy or other muscular dystrophies. (nih.gov)
  • Muscular dystrophies are caused by abnormalities in proteins that are important for the structure and function of muscle. (healthychildren.org)
  • Children with congenital muscular dystrophy have low muscle tone and weakness at birth. (healthychildren.org)
  • A visual analog scale was used to examine perceived muscle soreness, a flexible tape measure was used to measure muscular girth and markers of muscle damage (creatine kinase, CK and lactate dehydrogenase, LDH) were measured. (researchgate.net)
  • Facioscapulohumeral muscular dystrophy has been associated with Mobius Syndrome and is a progressive proximal muscle disease leading to progressive weakness about the hip and shoulder [ 5 , 6 ]. (hindawi.com)
  • Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). (nih.gov)
  • with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy , rippling muscle disease, or Pompe disease. (nih.gov)
  • Diseases such as the muscular dystrophies are characterised by muscle wasting, meaning that this repair/regeneration function performed by satellite cells becomes progressively compromised. (kcl.ac.uk)
  • The main themes of the Zammit group include investigating the transcriptional and signalling control of satellite cell activation and cell fate choice and examining pathomechanisms and potential therapies for muscular dystrophies including Facioscapulohumeral muscular dystrophy and Emery-Dreifuss muscular dystrophy and muscle-related cancers such as rhabdomyosarcoma. (kcl.ac.uk)
  • On the other hand, Muscular dystrophy is characterized by symmetrical muscle wasting and distribution of weakness in the muscles. (differencebetween.net)
  • Muscle Weakness (Myopathy, Muscular Dystrophy). (mendelian.co)
  • Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. (medlineplus.gov)
  • Facioscapulohumeral muscular dystrophy is characterized by weakness of the facial muscles and shoulder girdle. (msdmanuals.com)
  • Although they had normal motor milestones, all patients showed facial weakness from early childhood, and subsequently were severely affected with rapid progression of the disease, marked muscular wasting, weakness, and hyperlordosis. (paedcro.com)
  • Muscular dystrophies are a group of diseases that cause weakness and degeneration of the skeletal muscles. (brilliantessay.com)
  • A voluntary health organization that provides support for promising research into finding treatments or a cure for limb-girdle muscular dystrophy, type 2A/calpainopathy (LGMD2A). (childneurologyfoundation.org)
  • The Jain Foundation seeks to expedite development of a cure or therapy for Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi Myopathy. (childneurologyfoundation.org)
  • For more detailed information about MD types and symptoms, visit the National Institute of Neurological Disorders and Stroke website, Muscular Dystrophy: Hope Through Research . (nih.gov)
  • EXPLORATORY RESEARCH ON FACIOSCAPULOHUMERAL DYSTROPHY Release Date: November 8, 2000 RFA: AR-01-002 National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Neurological Disorders and Stroke Letter of Intent Receipt Date: February 1, 2001 Application Receipt Date: March 14, 2001 THIS RFA USES THE "MODULAR GRANT" AND "JUST-IN-TIME" CONCEPTS. (nih.gov)
  • Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). (medlineplus.gov)
  • Participants diagnosed with Facioscapulohumeral muscular dystrophy type 1 (FSHD1) or Facioscapulohumeral muscular dystrophy type 2 (FSHD2) will participate in Part A (Placebo-controlled treatment period) and will be randomized in a 1:1 ratio to receive losmapimod 15 milligrams (mg) or placebo orally twice daily (BID). (uci.edu)
  • Missense mutations in SMCHD1 are associated with arhinia, and Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2). (nih.gov)
  • This structure reveals the locations of congenital arhinia (magenta) or Facioscapulohumeral Muscular Dystrophy type 2 (FSHD2, blue) disease-associated mutations. (nih.gov)
  • 14. Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy. (nih.gov)
  • Facioscapulohumeral muscular dystrophy 2 (sequence analysis of SMCHD1 gene). (mendelian.co)
  • Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene. (mendelian.co)
  • In 1954 based on their own detailed clinical studies and an extensive review of the earlier literature, Walton and Nattrass 1 proposed a new and valuable classification of the muscular dystrophies. (bmj.com)
  • During the past 10 years the European Neuromuscular Centre, now based in the Netherlands, has encouraged and coordinated both clinical and laboratory studies of dystrophy, many of which have led directly or indirectly to the advances reported here. (bmj.com)
  • Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report. (seattlechildrens.org)
  • These Centers promote collaborative basic, translational and clinical research and provide important resources that can be used by the national muscular dystrophy research communities. (nih.gov)
  • Facioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. (adam.com)
  • Available at https://rarediseases.org/rare-diseases/facioscapulohumeral-muscular-dystrophy/ . (medscape.com)
  • Muscular dystrophies are a group of diseases caused by defects in a person's genes. (nih.gov)
  • For over 60 years, the Muscular Dystrophy Family Foundation has provided support to help people with neuromuscular diseases live each day to the fullest . (mdff.org)
  • 11. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. (nih.gov)
  • Facioscapulohumeral muscular dystrophy is the most prevalent type of muscular dystrophy. (msdmanuals.com)
  • Others include Myotonic muscular dystrophy which is very prevalent among young adults and will sustain up to 20 years. (differencebetween.net)
  • Drawing on almost 30 years of research heritage, the company is using its expertise to model spinal muscular atrophy and facioscapulohumeral muscular dystrophy to identify potential therapies. (tecan.com)
  • The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. (medlineplus.gov)
  • Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye ( the retina ). (medlineplus.gov)
  • Emery-Dreifuss dystrophy is a muscular dystrophy with multiple modes of inheritance. (merckmanuals.com)
  • Treatment of Emery-Dreifuss dystrophy involves therapy to prevent contractures. (merckmanuals.com)
  • Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. (medscape.com)
  • Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable. (medscape.com)
  • Available at https://radiopaedia.org/articles/facioscapulohumeral-muscular-dystrophy?lang=us . (medscape.com)
  • The full paper, 'Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy ' is published in Frontiers in Cell and Developmental Biology . (kcl.ac.uk)
  • High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms. (medscape.com)
  • Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography. (medscape.com)
  • Many muscular dystrophies are familial, meaning there is some family history of the disease. (nih.gov)
  • One factor to note is that all forms of Muscular Dystrophies are hereditary while Multiple sclerosis is not. (differencebetween.net)
  • Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. (medlineplus.gov)
  • What are the treatments for muscular dystrophy (MD)? (nih.gov)
  • 1. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. (nih.gov)
  • Notice of Intent to Publish a Funding Opportunity Announcement (FOA) for the Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers (U54). (nih.gov)
  • The purpose of this Funding Opportunity Announcement (FOA) is to publicize the re-competition of Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers (MDCRCs). (nih.gov)
  • The centers also provide an outstanding environment for the training and career development of new scientists electing to pursue careers conducting research in high priority areas of muscular dystrophy. (nih.gov)
  • One provision of the MD-CARE Act was that the NIH establish centers of excellence for research on muscular dystrophy. (nih.gov)
  • The University of Massachusetts Wellstone Center maintains a repository of biomaterials collected from facioscapulohumeral muscular dystrophy patients and unaffected relatives. (nih.gov)
  • The MDCRCs program was subsequently developed in honor of Senator Paul D. Wellstone, a champion of muscular dystrophy research. (nih.gov)