Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.

Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait. (1/43)

Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. A series of related miniature schnauzer dogs with congenital myotonic myopathy were studied. A composite pedigree of six affected litters and the results of a planned breeding between two affected animals are consistent with an autosomal recessive mode of inheritance.  (+info)

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. (2/43)

OBJECTIVES: To characterise the clinical and electrophysiological features and to determine the molecular genetic basis of pure paramyotonia congenita in a previously unreported large Irish kindred. METHODS: Clinical and neurophysiological examination was performed on three of the five affected family members. Five unaffected and three affected members of the family were available for genetic testing. Direct sequence analysis of the SCN4A gene on chromosome 17q, was performed on the proband's DNA. Restriction fragment length polymorphism (RFLP) analysis was used to screen other family members and control chromosomes for the SCN4A mutation identified. RESULTS: Each affected member had clinical and examination features consistent with pure paramyotonia congenita. Electrophysiological studies disclosed a 78% drop in compound muscle action potential (CMAP) amplitude on cooling to 20 degrees C. DNA sequence analysis identified a heterozygous point mutation G4367A in exon 24 of the SCN4A gene which segregated with paramyotonia and was absent in 200 control chromosomes. The mutation is predicted to result in a radical amino acid substitution at a highly conserved position within the voltage sensing fourth transmembrane segment of the fourth repeated domain of the sodium channel. CONCLUSIONS: The G4367A mutation is likely to be pathogenic and it associates with a pure paramyotonia phenotype. In keeping with other paramyotonia mutations in this region of the skeletal muscle sodium channel, it is predicted that this mutation will impair voltage sensing or sodium channel fast inactivation in a temperature dependent fashion. This study provides further evidence that exon 24 in SCN4A is a hot spot for paramyotonia mutations and this has implications for a DNA based diagnostic service.  (+info)

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (3/43)

Perlecan, a large heparan sulfate proteoglycan, is a component of the basement membrane and other extracellular matrices and has been implicated in multiple biological functions. Mutations in the perlecan gene (HSPG2) cause two classes of skeletal disorders: the relatively mild Schwartz-Jampel syndrome (SJS) and severe neonatal lethal dyssegmental dysplasia, Silverman-Handmaker type (DDSH). SJS is an autosomal recessive skeletal dysplasia characterized by varying degrees of myotonia and chondrodysplasia, and patients with SJS survive. The molecular mechanism underlying the chondrodystrophic myotonia phenotype of SJS is unknown. In the present report, we identify five different mutations that resulted in various forms of perlecan in three unrelated patients with SJS. Heterozygous mutations in two patients with SJS either produced truncated perlecan that lacked domain V or significantly reduced levels of wild-type perlecan. The third patient had a homozygous 7-kb deletion that resulted in reduced amounts of nearly full-length perlecan. Unlike DDSH, the SJS mutations result in different forms of perlecan in reduced levels that are secreted to the extracellular matrix and are likely partially functional. These findings suggest that perlecan has an important role in neuromuscular function and cartilage formation, and they define the molecular basis involved in the difference in the phenotypic severity between DDSH and SJS.  (+info)

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. (4/43)

A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound muscle action potentials with repetitive discharges. Muscle biopsy revealed marked variation in the fiber size and increased internal nuclei. The molecular biological study revealed a common missense mutation (Arg1448Cys) at the voltage-gated sodium channel gene (SCN4A). The repetitive CMAP discharges during short exercise test with cooling observed in the proband has not been reported previously. This observation needs to be confirmed among PC patients with different mutations. This is the first report on a PC family confirmed by the molecular biological technique in Korea.  (+info)

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V. (5/43)

Missense mutations of the human skeletal muscle voltage-gated Na+ channel (hSkM1) cause a variety of neuromuscular disorders. The mutation R1448H results in paramyotonia congenita and causes cold-induced myotonia with subsequent paralysis. The mutation M1360V causes an overlapping syndrome with both K+-induced muscle weakness and cold-induced myotonia. The molecular mechanisms of the temperature dependence of these disorders are not well understood. Therefore we investigated physiological parameters of these Na+ channel mutations at different temperatures. Channel proteins were recombinantly expressed in human embryonic kidney cells and studied electrophysiologically, using the whole-cell patch-clamp technique. We compared the wild-type (WT) channel with both mutants at different temperatures. Both mutations had slower inactivation and faster recovery from inactivation compared to WT channels. This effect was more pronounced at the R1448H mutation, leading to a larger depolarization of the cell membrane causing myotonia and paralysis. The voltage dependence of activation of R1448H was shifted to more negative membrane potentials at lower temperature but not at the M1360V mutation or in the WT. The window current by mutation R1448H was increased at lower temperatures. The results of this study may explain the stronger cold-induced clinical symptoms resulting from the R1448H mutation in contrast to the M1360V mutation.  (+info)

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. (6/43)

The authors describe an Italian kindred with nine individuals affected by hyperkalaemic periodic paralysis associated with paramyotonia congenita (hyperPP/PMC). Periodic paralysis was particularly severe, with several episodes a day lasting for hours. The onset of episodes was unusually early, beginning in the first year of life and persisting into adult life. The paralytic episodes were refractory to treatment. Patients described minimal paramyotonia, mainly of the eyelids and hands. All affected family members carried the threonine to methionine substitution at codon 704 (T704M) in exon 13 of the skeletal muscle voltage gated sodium channel gene (SCN4A). The association between T704M and the hyperPP/PMC phenotype has been only recently revealed. Nevertheless, such a severe phenotype has never been reported so far in families with either hyperPP or hyperPP/PMC. These data further broaden the clinical spectrum of T704M and support the evidence that this mutation is a common cause of hyperPP/PMC.  (+info)

Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita. (7/43)

A 37-year-old Japanese woman was referred from another clinic to confirm the diagnosis of myotonia congenita. She had experienced cold-induced myotonia and muscle stiffness from early childhood. Of her three children, her elder son and her daughter have clinical features similar to hers. They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms. DNA analyses of the SCN4A gene showed a C to T transition at nucleotide position 3938 in exon 22 of SCN4A (Thr1313Met) in all three affected family members, but not in the unaffected son. Paramyotonia congenita, the prevalence of which is very low in Japan, was diagnosed based on their clinical features and DNA analysis results.  (+info)

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. (8/43)

Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming alpha subunit (hSkM1) of the skeletal muscle Na+ channel. Muscle stiffness is the predominant clinical symptom. It is usually induced by exposure to cold and is aggravated by exercise. The most prevalent PC mutations occur at T1313 on DIII-DIV linker, and at R1448 on DIV-S4 of the alpha subunit. Only one substitution has been described at T1313 (T1313M), whereas four distinct amino-acid substitutions were found at R1448 (R1448C/H/P/S). We report herein a novel mutation at position 1313 (T1313A) associated with a typical phenotype of PC. We stably expressed T1313A or wild-type (hSkM1) channels in HEK293 cells, and performed a detailed study on mutant channel gating defects using the whole-cell configuration of the patch-clamp technique. T1313A mutation impaired Na+ channel fast inactivation: it slowed and reduced the voltage sensitivity of the kinetics, accelerated the recovery, and decreased the voltage-dependence of the steady state. Slow inactivation was slightly enhanced by the T1313A mutation: the voltage dependence was shifted toward hyperpolarization and its steepness was reduced compared to wild-type. Deactivation from the open state assessed by the tail current decay was only slowed at positive potentials. This may be an indirect consequence of disrupted fast inactivation. Deactivation from the inactivation state was hastened. The T1313A mutation did not modify the temperature sensitivity of the Na+ channel per se. However, gating kinetics of the mutant channels were further slowed with cooling, and reached levels that may represent the threshold for myotonia. In conclusion, our results confirm the role of T1313 residue in Na+ channel fast inactivation, and unveil subtle changes in other gating processes that may influence the clinical phenotype.  (+info)

Myotonic disorders are a group of genetic muscle diseases characterized by the inability to relax muscles (myotonia) after contraction. Myotonia can cause symptoms such as stiffness, muscle spasms, and prolonged muscle contractions or cramps. These disorders may also be associated with other symptoms, including muscle weakness, wasting, and various systemic features.

The most common myotonic disorder is myotonic dystrophy type 1 (DM1), which is caused by a mutation in the DMPK gene. Myotonic dystrophy type 2 (DM2) is another form of myotonic dystrophy, resulting from a mutation in the CNBP gene. These two forms of myotonic dystrophy have distinct genetic causes but share similar clinical features, such as myotonia and muscle weakness.

Other less common myotonic disorders include:

1. Myotonia congenita - A group of inherited conditions characterized by muscle stiffness from birth or early childhood. There are two main types: Thomsen's disease (autosomal dominant) and Becker's disease (autosomal recessive).
2. Paramyotonia congenita - An autosomal dominant disorder characterized by muscle stiffness triggered by cold temperatures or physical exertion.
3. Potassium-aggravated myotonia (PAM) - A rare, autosomal dominant condition with symptoms similar to paramyotonia congenita but without the cold sensitivity.
4. Myotonia fluctuans - A rare, autosomal dominant disorder characterized by fluctuating muscle stiffness and cramps.
5. Acquired myotonia - Rare cases of myotonia caused by factors other than genetic mutations, such as medication side effects or underlying medical conditions.

Myotonic disorders can significantly impact a person's quality of life, making daily activities challenging. Proper diagnosis and management are essential to help alleviate symptoms and improve overall well-being.

Myotonic dystrophy is a disorder that presents as muscle weakness and consists of two main types: DM1 and DM2. Both types of ... Hahn C, Salajegheh MK (January 2016). "Myotonic disorders: A review article". Iranian Journal of Neurology. 15 (1): 46-53. PMC ... The two genes don't encode for proteins unlike other disorders like Huntington's disease or Fragile X syndrome. It has been ... Huntington's disease is a neurodegenerative disorder which is due to the expansion of repeated trinucleotide sequence CAG in ...
Myotonic dystrophy is a rare muscular disorder in which numerous bodily systems are affected. There are four forms of Myotonic ... SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. In 1992, for myotonic dystrophy ... with Myotonic Dystrophy have been found to experience varying internalized disorders such as anxiety and mood disorders as well ... myotonic dystrophy and Friedreich's ataxia. The first documentation of anticipation in genetic disorders was in the 1800s. ...
... myotonic muscular dystrophy: Type 1 and Type 2) Potassium channel disorders (KCNJ2) Andersen-Tawil syndrome Other disorders ... Lossin, Christoph (2013). "Nav1.4 slow-inactivation: Is it a player in the warm-up phenomenon of myotonic disorders?". Muscle ... The disorder is caused by mutations in part of a gene (CLCN1) encoding the ClC-1 chloride channel, resulting in muscle fiber ... As with myotonic goats, children are more prone to falling than adults, due to their impulsivity.[citation needed] The two ...
These include diseases from metabolic and genetic disorders such as mannosidosis, myotonic dystrophy, Lowe syndrome, and Coffin ... The MR images of other neurological disorders can be similar to those of the dilated spaces. These disorders are: cystic ... Recent and ongoing research has found associations between enlarged VRS and several disorders. At one point in time, dilated ... There is a fourth miscellaneous group of disorders typically associated with dilation that includes autism in children, ...
... (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and ... While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. Myotonic dystrophy is caused by a genetic ... The incidence of congenital myotonic dystrophy is thought to be about 1:20,000. Myotonic dystrophy was first described by a ... A severe form of DM1, congenital myotonic dystrophy, may appear in newborns of mothers who have DM. Congenital myotonic ...
... in 1909 Steinert published a description of six patients with a neurological disorder that became known as myotonic dystrophy. ... Stimulating his patients' muscles with electricity, he observed worm-like twitching reactions, later identified as myotonic ... myotonic dystrophy is sometimes referred to as Curschmann-Steinert syndrome.[citation needed] In 1905 he married Else ... was a German neurologist best known for publishing the first description of myotonic dystrophy. Steinert was born in Dresden to ...
... s have been observed in a variety of genetic disorders including Turner syndrome, myotonic dystrophy, Rubinstein- ...
Anticipation is common in trinucleotide repeat disorders, such as Huntington's disease and myotonic dystrophy, where a dynamic ... myotonic dystrophy).[citation needed] In order to have a deleterious effect, the number of repeats must cross a certain ... In genetics, anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of ... the gene that is altered in myotonic dystrophy. If the number of repeats is between 50 and 100, the person is only mildly ...
ZFNs have also been used to modify disease-causing alleles in triplet repeat disorders. Expanded CAG/CTG repeat tracts are the ... genetic basis for more than a dozen inherited neurological disorders including Huntington's disease, myotonic dystrophy, and ...
Myotonic dystrophy protein kinase has been shown to interact with HSPB2 and RAC1. The close relationship of DMPK to the Rho- ... 1 is an autosomal dominant neuromuscular disorder affecting approximately 1 in 8000 individuals. Affected individuals display a ... For example, myotonic dystrophy protein kinase has been shown to turn off (inhibit) part of a muscle protein called myosin ... As the DMPK repeat is replicated, the hairpin loop that is formed leads to repeat expansion (a) or contractions (b). Myotonic ...
In the meantime Hiya was diagnosed as having Myotonic Dystrophy-a genetic disorder, by her Gynaecologist Dr. Deepa who opined ... While Ujan did not want to take any risk on Hiya because of the disorder, Hiya was desperate in love to gift back Ujan his lost ...
Alterations in lipid and carbohydrate metabolism, a triplet-repeat disorder (myotonic dystrophy) and an idiopathic disorder ... All these disorders can be caused by mutations in a single gene, XPD, or in other genes. Cockayne syndrome (CS) is a rare ... All disorders within this group are thought to be monogenic, meaning they arise from mutations of a single gene. Most known PS ... The disorder presents at infancy or early childhood. Xeroderma pigmentosum mostly affects the eye and skin. Individuals with XP ...
... inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders such as myotonic ... This was the first to be identified as the underlying mutations in human genetic disorders. Their findings in FMR1 explained ...
359.0 Congenital hereditary muscular dystrophy 359.1 Hereditary progressive muscular dystrophy 359.2 Myotonic disorders 359.3 ... 377.4 Other disorders of optic nerve 377.5 Disorders of optic chiasm 377.6 Disorders of other visual pathways 377.7 Disorders ... nerve 352.3 Disorders of pneumogastric [10th] nerve 352.4 Disorders of accessory [11th] nerve 352.5 Disorders of hypoglossal [ ... Scleritis and episcleritis 379.1 Other disorders of sclera 379.2 Disorders of vitreous body 379.3 Aphakia and other disorders ...
... inherited blood disorders). As a lecturer at the University of Glasgow, he studied human gene organisation and expression. In ... including myotonic dystrophy, Friedreich's ataxias, coronary artery disease, craniofacial abnormalities, and Alzheimer's ... and diagnosis of human genetic disorders. Williamson was born in Cleveland, Ohio, to Scottish parents. He was educated at the ... Experience with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study." J. Genet. Coun. 10 ...
CLCN1 Myotonic dystrophy; 160900; DMPK Myotonic dystrophy, type 2; 602668; ZNF9 Myotubular myopathy, X-linked; 310400; MTM1 ... CTDP1 Congenital disorder of glycosylation, type Ia; 212065; PMM2 Congenital disorder of glycosylation, type Ic; 603147; ALG6 ... ALG3 Congenital disorder of glycosylation, type Ie; 608799; DPM1 Congenital disorder of glycosylation, type If; 609180; MPDU1 ... ALG12 Congenital disorder of glycosylation, type Ih; 608104; ALG8 Congenital disorder of glycosylation, type Ii; 607906; ALG2 ...
... myotonic disorders MeSH C10.668.491.606.500 - myotonia congenita MeSH C10.668.491.606.750 - myotonic dystrophy MeSH C10.668. ... headache disorders MeSH C10.228.140.546.399 - headache disorders, primary MeSH C10.228.140.546.399.750 - migraine disorders ... sleep disorders, circadian rhythm MeSH C10.886.425.200.500 - jet lag syndrome MeSH C10.886.425.800 - sleep disorders, intrinsic ... language development disorders MeSH C10.597.606.150.500.800 - speech disorders MeSH C10.597.606.150.500.800.100 - aphasia MeSH ...
Examples of single-gene disorder include Alport's syndrome, Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic ... Ichthyosis is an autosomal recessive disorder associated with cuneiform cataracts and nuclear sclerosis. Basal-cell nevus and ... Disorders of lens, Eye, Ophthalmology, Vision, Wikipedia medicine articles ready to translate, Wikipedia neurology articles ...
Newcastle Quebec Myotonic Dystrophy Biocatalog Genomic and Genetics Disorders Biobank (GGNB) at the Casa Sollievo della ... Tel-Aviv University Bank for the Diagnosis and Research of Movement Disorders (MDB), Carlo Besta Neurological Institute Bank of ... University of Milan Bank for the Diagnosis and Research on Neuromuscular Disorders (NHMGB), Cardiomyology and Medical Genetics ...
... member Gilbert Gottfried died after a long illness from a rare ventricular tachycardia disorder complicated by type II myotonic ...
"Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood Screening Program". ... A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. Single-gene disorders can be passed on ... Most genetic disorders are rare in themselves. There are well over 6,000 known genetic disorders, and new genetic disorders are ... Most genetic disorders are rare in themselves. Genetic disorders are present before birth, and some genetic disorders produce ...
... with a primary focus on neuromuscular and neurodegenerative disorders such as Duchenne muscular dystrophy (DMD), myotonic ... other neuromuscular disorders and indications outside the field of neuromuscular disorders. Prosensa's portfolio of clinical ... The company targets genetic disorders with a large unmet medical need, ...
... proteomics and medical diagnosis like in neuro-cognitive disorder (i.e. Alzheimer or myotonic dystrophy) detection based on MRI ... "Neurocognitive disorder detection based on feature vectors extracted from VBM analysis of structural MRI". Computers in Biology ...
Wolfram's syndrome is an autosomal recessive neurodegenerative disorder that first becomes evident in childhood. It consists of ... Various hereditary conditions may feature diabetes, for example myotonic dystrophy and Friedreich's ataxia. ... but also an inflammatory disorder. The link between certain TLR4 SNPs alleles and T2DM may be directly related to elevated TLR4 ...
Desminopathy Myotilinopathy Zaspopathy Filaminopathy Bag3opathy Myotonic dystrophy Facioscapulohumeral muscular dystrophy Emery ... Below is a partial list of neuromuscular disorders. Duchenne muscular dystrophy Becker muscular dystrophy DMD-associated ... Selcen, D (March 2011). "Myofibrillar myopathies". Neuromuscular Disorders. 21 (3): 161-71. doi:10.1016/j.nmd.2010.12.007. PMC ... Neuromuscular Disorders. 28 (8): 702-710. doi:10.1016/j.nmd.2018.05.007. PMID 30055862. S2CID 51865029. Wicklund, MP (December ...
In others, such as Myotonic Dystrophy Type 1, the pathology is caused by a change in protein expression or function mediated ... Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused ... Trinucleotide repeat disorders and the related microsatellite repeat disorders affect about 1 in 3,000 people worldwide. ... The third main category of trinucleotide repeat disorders and related microsatellite disorders is due to the translation of ...
... bipolar disorder, Alzheimer's disease, anorexia nervosa and ataxia as well as myotonic muscular dystrophy. GRCh38: Ensembl ... protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice". Neurosci. Lett. 347 (3): ... 2009). "A common variant in DRD3 receptor is associated with autism spectrum disorder". Biol. Psychiatry. 65 (7): 625-30. doi: ... Mutations in KCa2.3 are suspected to be a possible underlying cause for several neurological disorders, including schizophrenia ...
Mood disorders, like depression, anxiety disorder and bipolar disorder, can also be associated with hypersomnia. The complaint ... Myotonic dystrophy is often associated with SOREMPs (sleep onset REM periods, such as occur in narcolepsy). There are many ... Sleep movement disorders, such as restless legs syndrome (RLS) and periodic limb movement disorder (PLMD or PLMS) can also ... Actigraphy is also helpful in ruling out other sleep disorders, especially circadian disorders, leading to an excess of ...
PGD is available for a large number of monogenic disorders-that is, disorders due to a single gene only (autosomal recessive, ... Several PCR-based assays have been developed for various diseases like the triplet repeat genes associated with myotonic ... For sex determination (used for instance when a PCR protocol for a given X-linked disorder is not available), probes for the X ... Another problematic case is the cases of desired non-disclosure of PGD results for some genetic disorders that may not yet be ...
"Myotonic Dystrophy Type 1". Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf. PMID 20301344. Archived from the ... The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when ... Over 30 different disorders are classified as muscular dystrophies. Of those, Duchenne muscular dystrophy (DMD) accounts for ... There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are under ...
We report a rare association between myotonic dystrophy type 2 and a seizure disorder. The pathophysiology of a possible ... Background: Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms ... Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation ... Conclusions: We report a rare association between myotonic dystrophy type 2 and a seizure disorder. The pathophysiology of a ...
Myotonic dystrophy is a disorder that presents as muscle weakness and consists of two main types: DM1 and DM2. Both types of ... Hahn C, Salajegheh MK (January 2016). "Myotonic disorders: A review article". Iranian Journal of Neurology. 15 (1): 46-53. PMC ... The two genes dont encode for proteins unlike other disorders like Huntingtons disease or Fragile X syndrome. It has been ... Huntingtons disease is a neurodegenerative disorder which is due to the expansion of repeated trinucleotide sequence CAG in ...
2. Myotonic Disorders. *Congenital Myotonic Dystrophy *Myotonia *Myotonic Dystrophy. 3. Congenital Myopathies. *Central Core ...
Genetics and physiology of the myotonic muscle disorders. N Engl J Med. 1993 Feb 18. 328(7):482-9. [QxMD MEDLINE Link]. ... This disorder is most prevalent in Asians and Latin American men. Thyrotoxic PP is a genetic disorder unmasked by ... No single mechanism is responsible for this group of disorders. Thus, they are heterogeneous but share some common traits. The ... are not associated with episodic weakness and are discussed in more detail in the articles on myotonic disorders. ...
development of therapies for the triplet repeat disorder myotonic dystrophy. Evolutionary Genetics. Research interests within ... studies to understand the molecular basis of myotonic dystrophy, the identification of genes involved in human developmental ... studies of the molecular basis of myotonic dystrophy and the identification of genes involved in cardiac development ... mouse models of muscle disorders and molecular genetic approaches to anthropology and human population genetics ...
Genetics and physiology of the myotonic muscle disorders. N Engl J Med. 1993 Feb 18. 328(7):482-9. [QxMD MEDLINE Link]. ... AAEE minimonograph #27: Differential diagnosis of myotonic syndromes. Muscle Nerve. 1987 Sep. 10(7):603-15. [QxMD MEDLINE Link] ... Neuromuscular and Autonomic Disorders Program, Director, ALS Program, Department of Neurology, Medical College of Wisconsin. ...
Myotonic dystrophy (part of a group of inherited disorders called muscular dystrophies). ... Prader-Willi syndrome (a rare genetic multisystem disorder than can cause hypothalamus dysfunction). ...
Schwartz said he died from recurrent ventricular tachycardia due to myotonic dystrophy type II, a disorder that affects the ...
... we am interested in the molecular genetics and experimental treatment of the trinucleotide repeat disorder myotonic dystrophy ( ... Combinatorial chloride and calcium channelopathy in myotonic dystrophy.; bioRxiv : the preprint server for biology. 2023 Jun 01 ... Congratulations to Lily Cisco and Chrissi Heil on their Myotonic Dystrophy Foundation Fellowships! ...
Myotonic Dystrophy (DM1) characterized by GeT-RMpdf icon. All cell lines in this table have been characterized using various ... Reference Materials for Hereditary Genetic Disorders and HLA Testing. ...
People with this disorder often have prolonged muscle contractions (myotonic) and are not able to relax certain muscles after ... Researchers reveal pathological mechanisms in congenital myotonic dystrophy Myotonic dystrophy (DM) is the most common form of ...
The studies helped uncover what goes wrong in several human childhood-onset genetic neuromuscular disorders, including myotonia ... congenita and myotonic dystrophy. Both occur when chloride channel presence is altered in muscle. Largely following from ... in humans can result in an X-linked human disorder ...
Myotonic dystrophy is an inherited disorder, the most common form of a group of conditions called muscular dystrophies that ... Myotonic dystrophy type 1 is caused a type of RNA defect known as a "triplet repeat," a series of three nucleotides repeated ... The first authors of the study, "Induction and Reversal of Myotonic Dystrophy Type 1 Pre-mRNA Splicing Defects by Small ...
myotonic muscular dystrophy (근긴장성 근이영양증) progressive muscular dystrophy (진행성 근이영양증) G71 근육의 원발성 장애(Primary disorders of muscles ... G71.1 근긴장성 장애(Myotonic disorders) 근긴장성 이영양증[스타이너트](Dystrophia myotonica[Steinert]) 연골이영양증성 근긴장증(Chondrodystrophic myotonia) ... G71.8 근육의 기타 원발성 장애(Other primary disorders of muscles) G71.9 상세불명의 근육의 원발성 장애(Primary disorder of muscle, unspecified) 유전성 근병증 ... 대사 장애(metabolic disorders)(E70-E90) 근염(myositis)(M60.-) G71.0 근이영양증(Muscular dystrophy) 뒤시엔느 또는 베커와 유사한 상염색체열성 소아형 근이영양증( ...
Ragette R, Mellies U, Schwake C, et al. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax2002 ... congenital myotonic dystrophy amd SMA II. Neuromusc Disord2004;14:56-69. ... The trial can be criticised for including a heterogeneous group of patients with a variety of disorders all of which might have ... As fewer patients with pure chest wall disorders were included, the results may be less applicable to this group than to ...
Introduction: Steinert s myotonic dystrophy (SMD) is a neuromuscular disorder with a multisystem distribution. It is a genetic ... 46 xy disorders of sex development (dsd): a case report. Elgharroudi Farah , El Ansari Nawal , El Mghari Ghizlane ... Curschmann Steinert disease and related endocrine disorders. Fatima Ezzahra Mennani , Douali Ouidad , Rafi Sana , El Mghari ... An Intellectual Development Disorder Revealing A Rare Variant of the Klinefelter Syndrome 48, XXXY: A Case Report. Amira Ikram ...
... androgen synthesis disorders, myotonic dystrophy, hypothyroidism. ... Pope HG Jr, Khalsa JH, Bhasin S. Body image disorders and abuse of anabolic-androgenic steroids among men. JAMA. 2017;317(1):23 ... Bhasin S, Seidman S. Testosterone treatment of depressive disorders in men: too much smoke, not enough high-quality evidence. ... Anabolic-androgenic steroid-related disorders. In: Sadock B, Sadock V, editors. Comprehensive Textbook of Psychiatry. ...
... as well as treatments for convulsive disorders, myotonic and muscular diseases. ...
Myotonic dystrophy Myotonic dystrophy is an autosomal dominant disorder which presents with gradually progressing ptosis and ... This autosomal dominant disorder manifests in the 4 to 5 decade of life with bilateral ptosis, progressive external ... A family history of ptosis should be looked for to rule out hereditary disorders. In patients where the history is inconclusive ... Myasthenia gravis is an autoimmune disorder characterized by the presence of antibodies to acetylcholine receptors located at ...
... myotonic dystrophy and other neuromuscular disorders. Our current research includes testing medications and other treatments. ... Movement Disorders. Our research into movement disorders includes investigating novel treatments for people with Parkinsons ... The Memory Disorders Clinic offers the chance for people with dementias to take part in promising research protocols. The ... Neuromuscular Disorders. Were looking for new ways to treat amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy, ...
Learn about sleeping disorders in those with neuromuscular disease. - Sleeping Disorders in Neuromuscular Disease - ... Some research has suggested that as many as 40% of those with neuromuscular disease suffer from a sleeping disorder. ... Sleep apnea often affects individuals with other neuromuscular diseases, such as type 1 myotonic muscular dystrophy and ... Further, sleeping disorders may be subtle, and may not cause daytime symptoms at all.. Once a sleeping disorder is detected, ...
Myotonic Dystrophy - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version. ... Myotonic dystrophy is an autosomal dominant Dominant x-linked disorders Genes are segments of deoxyribonucleic acid (DNA) that ... This disorder is called congenital myotonic dystrophy, which should not be confused with myotonia congenita Myotonia Congenita ... Myotonic dystrophy is a rare muscular dystrophy. This disorder affects the ability to relax the muscles at will. ...
... non-dystrophic myotonic disorders, and episodic ataxia. The research plan will exploit the strengths of seven collaborating ... Rare Genetic Steroid Disorders Consortium. New, Maria I, M.D.. Mount Sinai School of Medicine. 1 Gustave L. Levy Place. Box ... Urea Cycle Disorders Consortium. Batshaw, Mark L, M.D.. Childrens Research Institute,. 111 Michigan Avenue, NW. Washington, D. ... Genetic Disorders of Mucociliary Clearance Consortium. Knowles, Michael R., MDCF/Pulmonary. Research and Treatment Center. 7019 ...
... experimental work on the potential treatment differences for male and female patients with the neuromuscular disorder myotonic ... Sevinj Mursalova is researching potential treatments for myotonic dystrophy in the lab of RNA Institute Director Andy Berglund. ... is doing research on how mindfulness and emotional intelligence can help patients with post-traumatic stress disorder heal. ...
The clinical features of muscle stiffness in SJS type I somewhat resemble those seen in myotonic disorders, stiff person ... Prior to the discovery of the specific gene defect in SJS, the syndromes similarity to myotonic disorders provoked speculation ... SJS types IA and IB are very rare in the United States, although the exact frequency of these disorders is not known. Stuve- ... This feature has been viewed as making it part of a possible spectrum of dyssegmental disorders, which would include another ...
... including autosomal recessive disorders such as cystic fibrosis and autosomal dominant disorders such as myotonic dystrophy. ... "Parents will argue that its not a disorder, its a cultural choice, and that there is something important and valuable about ... According to Hughes, many couples come to Genesis Genetics seeking a savior sibling for quite a number of genetic disorders- ... It has been used for more than 20 years to prevent the transmission of specific disorders, ...
Myotonic dystrophy type 2 (DM2) is a rare, dominantly inherited, multisystem disorder, typically presenting in adult life. Core ... Myotonic dystrophy type 2 The challenging diagnosis of a complex disease. ... The clinical features show some striking similarities to fibromyalgia syndrome (FMS), a common disorder with widespread pain. ...
... proteins have been shown to be toxic to cells and to contribute to disease in other repeat expansion disorders like myotonic ... Neurological Disorders National Institute for Neurological Disorders and Stroke (NINDS) .. The NIH Institute with primary ... National Institute on Deafness & Other Communication Disorders (NIDCD) NIH RePORTER NIH RePORTER (Research Portfolio Online ... Lay summary: Friedreichs ataxia (FRDA), a severe progressive neurodegenerative disorder, is caused by an increasing number of ...
Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of ... and to potentially define cognitive clusters in these disorders. Study comprised 101 DM1 and 46 DM2 adult patients who were ... Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2 Neurol Sci. 2017 Mar;38(3): ... Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of ...
He passed away from recurrent ventricular tachycardia due to myotonic dystrophy type II, a disorder that affects the heart and ...
  • Respiratory muscle weakness is inevitable in many congenital neuromuscular and chest wall disorders and is the most common cause of chest infections, hospital admissions, and premature death. (bmj.com)
  • Infants with congenital myotonic dystrophy have severely reduced muscle tone (hypotonia, or "floppiness"), feeding and breathing problems, bone deformities, facial weakness, and delays in development of thought processes and physical movement. (msdmanuals.com)
  • Weakness in respiratory muscles can cause difficulties with breathing, and heart rhythm abnormalities can lead to repeated bouts of fatigue, dizziness, and fainting.Rarely, infants can have this form of MD, known as congenital myotonic dystrophy. (drweil.com)
  • DM2, also known as PROMM (proximal myotonic myopathy), does not have a congenital start and rarely develops in childhood. (growthplusreports.com)
  • Myotonic dystrophy (DM) is the most common form of genetic muscular dystrophy that begins in adulthood. (news-medical.net)
  • Myotonic dystrophy is an inherited disorder, the most common form of a group of conditions called muscular dystrophies that involve progressive muscle wasting and weakness. (scripps.edu)
  • Nexien's pipeline includes treatments for exposure to organophosphorus nerve agents, as well as treatments for convulsive disorders, myotonic and muscular diseases. (outsourcing-pharma.com)
  • We're looking for new ways to treat amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy, myotonic dystrophy and other neuromuscular disorders. (uky.edu)
  • Sleep apnea often affects individuals with other neuromuscular diseases, such as type 1 myotonic muscular dystrophy and Duchenne muscular dystrophy, as well. (bellaonline.com)
  • Myotonic dystrophy is a rare muscular dystrophy. (msdmanuals.com)
  • Muscular Dystrophy Association (MDA) - MDA is a non-profit organization dedicated to raising funds to support research efforts towards drug development and clinical trials for muscular dystrophy, amyotrophic lateral sclerosis or ALS, and related disorders. (curefa.org)
  • Thomsen's disease is also known as Myotonia Congenita, a muscular disorder with autosomal dominant inheritance. (klarity.health)
  • Conduction system diseases associated with multisystem disorders, such as muscular and myotonic dystrophies, will be described. (medscape.com)
  • The long-term prognosis is better than in patients with myotonic dystrophy 1 ( 160900 ), and some but not all reports suggest fewer individuals experience age-related cognitive decline. (arizona.edu)
  • Up to 30 tetranucleotide repeats in CNBP (3q21.3) is normal but patients with myotonic dystrophy 2 may have 11,000 or more and the number increases with age. (arizona.edu)
  • According to Myotonic Dystrophy Foundation, myotonic dystrophy is a rare, multi-systemic genetic condition that impacts 1 in 2,100 individuals or more than 3.6 million people globally. (growthplusreports.com)
  • Neurophysiologic examination typically shows continuous electrical activity (similar to myotonic discharges). (medscape.com)
  • It has been used for more than 20 years to prevent the transmission of specific disorders, including autosomal recessive disorders such as cystic fibrosis and autosomal dominant disorders such as myotonic dystrophy. (aacc.org)
  • Myotonic Dystrophy Type 1, also known as Steinert Disease and Type 2, a milder form of DM1, are multisystem disorders caused by autosomal dominant inheritance. (klarity.health)
  • Myotonic dystrophy (DM) is a progressive multisystemic genetic disorder which is inherited as an autosomal dominant trait. (nottingham.ac.uk)
  • Read more about neuromuscular disorders . (uky.edu)
  • Breathe Easy: Respiratory Care in Neuromuscular Disorders. (bellaonline.com)
  • Neuromuscular disorders : NMD, 30, 7. (myobase.org)
  • Neuromuscular disorders could cause myotonia and are best observed when there is a slowed relaxation or muscle unable to relax following a normal muscle contraction. (klarity.health)
  • Metabolic mitochondrial disorders and myotonic dystrophies can cause progressive AV block. (medscape.com)
  • Seizures are not a commonly associated neurological feature of this disorder. (nih.gov)
  • Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. (nih.gov)
  • Genetic testing revealed that he had an expansion mutation in CCHC-type zinc finger, nucleic acid binding protein gene confirming the diagnosis of myotonic disorder type 2 and carried a mutation in the chloride voltage-gated channel 1 gene. (nih.gov)
  • We report a rare association between myotonic dystrophy type 2 and a seizure disorder. (nih.gov)
  • Schwartz said he died from recurrent ventricular tachycardia due to myotonic dystrophy type II, a disorder that affects the heart. (sky.com)
  • Myotonic dystrophy type 1 is caused a type of RNA defect known as a "triplet repeat," a series of three nucleotides repeated more times than normal in an individual's genetic code. (scripps.edu)
  • The first authors of the study, "Induction and Reversal of Myotonic Dystrophy Type 1 Pre-mRNA Splicing Defects by Small Molecules," are Jessica L. Childs-Disney of TSRI, Ewa Stepniak-Konieczna of Adam Mickiewicz University (Poland) and Tuan Tran of TSRI. (scripps.edu)
  • The clinical features of muscle stiffness in SJS type I somewhat resemble those seen in myotonic disorders, stiff person syndrome, and Isaacs syndrome. (medscape.com)
  • Myotonic dystrophy type 2 (DM2) is a rare, dominantly inherited, multisystem disorder, typically presenting in adult life. (ru.nl)
  • The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders. (nih.gov)
  • Gottfried died from recurrent ventricular tachycardia due to myotonic dystrophy type II, a disorder that affects the heart, according to a statement by his publicist and longtime friend Glenn Schwartz to the Associated Press. (wamc.org)
  • Appropriate timing of electrophysiological study in myotonic dystrophy type 1: unsolved question. (institut-myologie.org)
  • An overview of heart rhythm disorders and management in myotonic dystrophy type 1. (institut-myologie.org)
  • In myotonic dystrophy type 1, the repetitive expansion grows with each aggrieved generation, typically causing an earlier start and worsening symptoms. (growthplusreports.com)
  • DM 1 is the most common myotonic dystrophy type. (growthplusreports.com)
  • For instance, in December 2022, Arthrex Biotech S.A., a pre-clinical-stage biotechnology firm pioneering unique microRNA modifying approaches to diseases with significant unmet medical needs, reached major regulatory milestones in its program to develop ATX-01 in Myotonic Dystrophy Type 1 (DM1), clearing the way for the submission of an Investigational New Drug (IND) application in the United States and a Clinical Trial Application (CTA) in Europe. (growthplusreports.com)
  • There are two subtypes of the disorder, DM type 1 and DM type 2. (nottingham.ac.uk)
  • A 57-year-old white American man presented with a long history of clinical and electrophysiological features of a myotonic disorder. (nih.gov)
  • This 'Molecular Perspectives' will highlight several diverse mechanisms of isolated conduction system disease as well as conduction system degeneration associated with other cardiac and non-cardiac disorders. (medscape.com)
  • Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)
  • People with this disorder often have prolonged muscle contractions (myotonic) and are not able to relax certain muscles after use. (news-medical.net)
  • Myotonia Congenita Myotonia congenita is an inherited disorder that causes muscle stiffness and muscle enlargement. (msdmanuals.com)
  • Steinert's (Myotonic) MD is the most common adult form and is typified by prolonged muscle spasms and the inability to voluntarily relax them. (drweil.com)
  • This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. (uclahealth.org)
  • Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders. (nih.gov)
  • Additionally, we am interested in the molecular genetics and experimental treatment of the trinucleotide repeat disorder myotonic dystrophy (DM1). (rochester.edu)
  • Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. (nih.gov)
  • These disorders have been identified as a major cause of nondental pain in the orofacial region, and are considered to be a subclassification of musculoskeletal disorders 11-13 . (bvsalud.org)
  • AAEE minimonograph #27: Differential diagnosis of myotonic syndromes. (medscape.com)
  • diagnosis differential, post-poliomyelitis syndrome, temporomandibular disorders. (bvsalud.org)
  • Discussion in this article primarily addresses the sodium, calcium, and potassium channelopathies as well as secondary forms of PP. Chloride channelopathies are not associated with episodic weakness and are discussed in more detail in the articles on myotonic disorders. (medscape.com)
  • Combinatorial chloride and calcium channelopathy in myotonic dystrophy. (rochester.edu)
  • Introduction: Non-alcoholic fatty liver disease (NAFLD) has become the leading cause of chronic liver disorders in Western countries, encompassing a spectrum of diseases ranging from simple steatosis to liver fibrosis and cirrhosis. (endocrine-abstracts.org)
  • Our research into movement disorders includes investigating novel treatments for people with Parkinson's disease, Huntington's disease, tremors and other neurodegenerative illnesses. (uky.edu)
  • Some research has suggested that as many as 40% of those with neuromuscular disease suffer from a sleeping disorder. (bellaonline.com)
  • People with neuromuscular disease have a number of factors which may lead to increased rates of sleeping disorder. (bellaonline.com)
  • Daytime fatigue and tiredness may be assumed to be caused by the neuromuscular disease rather than sleeping disorder. (bellaonline.com)
  • Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than skin cancer. (uclahealth.org)
  • Sevinj Mursalova is researching potential treatments for myotonic dystrophy in the lab of RNA Institute Director Andy Berglund. (albany.edu)
  • To date, several risk factors for PPS development have been reported, although the etiology of this disorder remains elusive 9 . (bvsalud.org)
  • Onset is between three and five years of age with a rapid progression of the disorder. (drweil.com)
  • Inherited myotonic disorders with early childhood onset MYOTONIA . (nih.gov)
  • Like classic myotonic dystrophy 1 ( 160900 ), this disorder also results from an abnormal number of repeats (in this case of CCTG). (arizona.edu)
  • Loss of MBNL protein function through sequestration by CUG or CCUG RNA repeats is largely responsible for the phenotypes of the human genetic disorder myotonic dystrophy (DM). (mpg.de)
  • Further, sleeping disorders may be subtle, and may not cause daytime symptoms at all. (bellaonline.com)
  • Symptoms of myotonic dystrophy begin during adolescence or young adulthood. (msdmanuals.com)
  • Symptoms of myotonic dystrophy begin during adolescence or young adulthood and can range from mild to severe. (msdmanuals.com)
  • Temporomandibular disorders (TMD) are usually diagnosed by means of comprehensive review of patient history and clinical examination and the symptoms are pain/ discomfort in the jaw, mainly in the region of the temporomandibular joints (TMJs) and/or masticatory muscles, limitation of mandibular function and/or TMJ sounds. (bvsalud.org)
  • Treatment of chronic ventilatory failure with nocturnal non-invasive ventilation (NIV) in adults and children with hypercapnic respiratory failure secondary to neuromuscular and chest wall disorders is standard practice. (bmj.com)
  • Weakened respiratory muscules caused by neuromuscular disorder can cause insufficient breathing during sleep. (bellaonline.com)
  • This disorder could be observed at birth or early childhood and progress throughout life. (klarity.health)
  • We offer novel therapies through clinical trials for people with multiple sclerosis (MS). Our Multiple Sclerosis and Neuroimmunology program includes research into better understanding and treatment of immunological disorders and viruses that affect the nervous system, with a focus on MS and AIDS. (uky.edu)
  • Breathing difficulties and a chronic disorder of heart muscles typically develop during adolescence, usually after the individual becomes wheelchair-bound. (drweil.com)
  • This disorder affects the ability to relax the muscles at will. (msdmanuals.com)
  • According to the deep-dive market assessment study by Growth Plus Reports, the global myotonic dystrophy treatment market was valued at US$ 735.2 million in 2021 and is expected to register a revenue CAGR of 5.56% to reach US$ 1,200 million by 2030. (growthplusreports.com)
  • Polycystic Ovary Syndrome (PCOS), the most common endocrine disorder of women during the reproductive period, is often implicated with NAFLD.Aim: To investigate the potential involvement of PCOS on the aggravation of NAFLD by. (endocrine-abstracts.org)
  • The clinical features show some striking similarities to fibromyalgia syndrome (FMS), a common disorder with widespread pain. (ru.nl)
  • Couples are determined to be at risk of having an affected child either because they already have an affected child, they themselves are affected with a condition, or they test positive for a mutation on prenatal genetic screening," explained Eric Forman, MD. "The typical paradigm is for couples to undergo in vitro fertilization (IVF), produce embryos, and have those embryos tested for the presence of a specific genetic disorder. (aacc.org)
  • Dominant x-linked disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules. (msdmanuals.com)
  • There are two main types of myotonic dystrophy (DM), DM1 and DM2, both of which are brought on by chromosomal abnormalities. (growthplusreports.com)
  • They can be divided conveniently into primary and secondary disorders. (medscape.com)
  • Orofacial pain and TMD can be associated with pathologic conditions or with disorders related to somatic and neurologic structures, such as primary headache disorders and rarely have a solitary cause and numerous factors have been implicated 15 . (bvsalud.org)
  • In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests which quickly and economically analyze the entire human genome. (cdc.gov)
  • The global myotonic dystrophy treatment market is expected to experience high revenue growth during the forecast period, owing to increase in the pipeline drugs being studied in clinical trials. (growthplusreports.com)
  • Signs of sleeping disorders include difficulty falling asleep or staying asleep, restlessness, anxiety about sleep, nighttime sweating, and fatigue and tiredness during the day. (bellaonline.com)
  • Anger issues in kids can be caused by conditions like autism, ADHD, anxiety or learning disorders . (abclearningtime.com)
  • The unifying clinical theme of the RDCRC is the study of urea cycle disorders (UCD). (webharvest.gov)