Toxic oil syndrome mortality: the first 13 years. (1/1572)
BACKGROUND: The toxic oil syndrome (TOS) epidemic that occurred in Spain in the spring of 1981 caused approximately 20000 cases of a new illness. Overall mortality and mortality by cause in this cohort through 1994 are described for the first time in this report. METHODS: We contacted, via mail or telephone, almost every living member of the cohort and family members of those who were known to have died in order to identify all deaths from 1 May 1981 through 31 December 1994. Cause of death data were collected from death certificates and underlying causes of death were coded using the International Classification of Diseases, 9th Revision. RESULTS: We identified 1663 deaths between 1 May 1981 and 31 December 1994 among 19 754 TOS cohort members, for a crude mortality rate of 8.4%. Mortality was highest during 1981, with a standardized mortality ratio (SMR) of 4.92 (95% confidence interval [CI]: 4.39-5.50) compared with the Spanish population as a whole. The highest SMR, (20.41, 95% CI: 15.97-25.71) was seen among women aged 20-39 years during the period from 1 May 1981 through 31 December 1982. Women <40 years old, who were affected by TOS , were at greater risk for death in most time periods than their unaffected peers, while older women and men were not. Over the follow-up period, mortality of the cohort was less than expected when compared with mortality of the general Spanish population, or with mortality of the population of the 14 provinces where the epidemic occurred. We also found that, except for deaths attributed to external causes including TOS and deaths due to pulmonary hypertension, all causes of death were decreased in TOS patients compared to the Spanish population. The most frequent underlying causes of death were TOS, 350 (21.1%); circulatory disorders, 536 (32.3%); and malignancies, 310 (18.7%). CONCLUSIONS: We conclude that while on average people affected by toxic oil syndrome are not at greater risk for death over the 13-year study period than any of the comparison groups, women <40 years old were at greater risk of death. (+info)Wasting of the small hand muscles in upper and mid-cervical cord lesions. (2/1572)
Four patients are described with destructive rheumatoid arthritis of the cervical spine and neurogenic wasting of forearm and hand muscles. The pathological connection is not immediately obvious, but a relationship between these two observations is described here with clinical, radiological, electrophysiological and necropsy findings. Compression of the anterior spinal artery at upper and mid-cervical levels is demonstrated to be the likely cause of changes lower in the spinal cord. These are shown to be due to the resulting ischaemia of the anterior part of the lower cervical spinal cord, with degeneration of the neurones innervating the forearm and hand muscles. These findings favour external compression of the anterior spinal artery leading to ischaemia in a watershed area as the likeliest explanation for this otherwise inappropriate and bizarre phenomenon. (+info)Obturator internus muscle abscess in children: report of seven cases and review. (3/1572)
Obturator internus muscle (OIM) abscess is an uncommon entity often mistaken for septic arthritis of the hip. We describe seven children with OIM abscess and review seven previously reported cases. The most common presenting symptoms were hip or thigh pain (14 patients), fever (13), and limp (13). The hip was flexed, abducted, and externally rotated in 11 patients. Magnetic resonance imaging and computed tomography (CT) were diagnostic for OIM abscess in the 14 patients. Associated abscesses were located in the obturator externus muscle (5 patients), psoas muscle (2), and iliac muscle (1). The etiologic agents were Staphylococcus aureus (8 patients), Streptococcus pyogenes (2), Neisseria gonorrhoeae (2), and Enterococcus faecalis (1). Three patients underwent CT-guided percutaneous drainage, and three had surgical drainage. Three patients had ischial osteomyelitis in addition to OIM abscess. The 11 children with uncomplicated OIM abscess were treated for a median of 28 days. All patients had an uneventful recovery. (+info)Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (4/1572)
Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin. (+info)Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey. (5/1572)
A patient with muscular weakness demonstrating pathological lipid accumulation and abnormal mitochondria in skeletal muscle has been studied. The lipid accumulation and mitochondrial changes are thought to be related to the established deficiency of carnitine in this patient's muscle. The symptoms of muscular weakness associated with lipid accumulation in the skeletal muscle in the absence of complaint of muscle cramps or myglobinuria are thought to be diagnostic of carnitine deficiency. The failure of the sarcoplasmic reticulum to accumulate Ca2+ is discussed. The patient's strength responded dramatically when propranolol was added to his steroid therapy. (+info)Measurements of muscle strength and performance in children with normal and diseased muscle. (6/1572)
A study has been made of two simple means of measuring muscle power in children with normal and diseased muscle. In one the length of time that the leg and the head could be held at 45 degrees above the horizontal was measured with the child supine. In the second, measurements were made of the isometric strength of six muscle groups with the newly developed Hammersmith Myometer. In the timed performance tests only 5 (8%) of a group of 61 children known to have muscle disease achieved the minimum expected values for their ages. Myometer readings of the isometric power of the children with muscle disease also have values which were below those of a comparable group of normal children. The reproducibility of muscle strength measurements in young children has been shown to be good, whereas the timed performance tests, though able to differentiate normal children from children with muscle disease, did not show sufficient reporducibility for this test to be recommended for sequential measurements. (+info)Calcific myonecrosis. (7/1572)
Calcific myonecrosis is a rare and late sequela of compartment syndrome, which becomes symptomatic years after the initial trauma. We diagnosed this condition in a 64-year old man, 42 years after he sustained a shot-gun wound to the right lower leg. Total excision of a peripherally calcified, cystic mass, continuous with the anterior tibial muscle belly resulted in complete resolution of symptoms. Consideration of the diagnosis is warranted in patients with a history of major injury who develop a soft tissue mass in the traumatized compartment. The treatment of choice is marginal excision. (+info)The prevalence and CT appearance of the levator claviculae muscle: a normal variant not to be mistaken for an abnormality. (8/1572)
BACKGROUND AND PURPOSE: The levator claviculae muscle is an infrequently recognized variant in humans, occurring in 2% to 3% of the population, and has rarely been reported in the radiologic or anatomic literature. The importance of this muscle to radiologists is in distinguishing it from an abnormality; most commonly, cervical adenopathy. After discovering this muscle on the CT scans of two patients during routine clinical examinations, we conducted a study to determine the prevalence and appearance of the muscle on CT studies. METHODS: We evaluated 300 CT scans that adequately depicted the expected location of the muscle. The most superior level in which the muscle could be identified and the apparent location of insertion on the clavicle were recorded for all subjects in whom the muscle was detected. RESULTS: Seven levator claviculae muscles were identified in six subjects (2%). It was bilateral in one, on the left in four, and on the right in one. It was identified up to the level of the transverse process of C3 in all cases. The insertion was the middle third of the clavicle for two muscles and the lateral third of the clavicle for the remaining five muscles. CONCLUSION: Because the levator claviculae muscle will most likely be encountered during a radiologist's career, it is important to recognize this muscle as a variant and not as an abnormality. (+info)Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.
Examples of muscular diseases include:
1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.
It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.
Duchenne muscular dystrophy
Muscular system
Spinal muscular atrophy
Congenital muscular dystrophy
Spinal muscular atrophy with lower extremity predominance 1
Hoffmann syndrome
Progressive muscular atrophy
Spinal and bulbar muscular atrophy
Watson Khupe
Lisa Welander
Hardgainer
Myostatin
Hereditary inclusion body myopathy
Glycogen storage disease type III
Lewis Rowland
Jean-Martin Charcot
Acceleron Pharma
Ludvig Strigeus
Kyle Bryant
Thomas A. Rando
Introduction to genetics
Sphincter paralysis
Oculopharyngeal muscular dystrophy
Limb-girdle muscular dystrophy
Orphan drug
Orthopedic pathology
Hereditary motor and sensory neuropathy
Anti-MAG peripheral neuropathy
Nusinersen
Pseudohypertrophy
Prostaglandin E1 in peripheral vascular disease: a PET study of muscular blood flow
GARD Rare Disease Information - Spinal muscular atrophy 1 - National Organization for Rare Disorders
Becker Muscular Dystrophy (BMD) - Diseases | Muscular Dystrophy Association
Diagnosis - Amyotrophic Lateral Sclerosis (ALS) - Diseases | Muscular Dystrophy Association
Muscular Diseases Awareness | Disease-Related Research
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. |...
Microarray Analysis of Gene Expression by Skeletal Muscle of Three Mouse Models of Kennedy Disease/Spinal Bulbar Muscular...
Not Just a Kids' Disease - Care of Adults with Spinal Muscular Atrophy is Focus of Study - Rehab Management
Intractable Muscular Disease Projectの内村智也研究員がISSCR 2020 Travel & Merit Awardを受賞
At the "Junction" of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease...
Calpain-3-related limb-girdle muscular dystrophy R1 - About the Disease - Genetic and Rare Diseases Information Center
Computed tomography based thoracic muscular cross-sectional area in patients without chronic diseases - a pilot study -...
Aldolase Activity in the Plasma or Serum of Normal Children and Families with Muscular Dystrophy | Archives of Disease in...
Effect on maximal mouth opening in children with spinal muscular atrophy treated with onasemnogene abeparvovec | Archives of...
Becker muscular dystrophy » Institute for rare diseases
CINRG Disease progression modeling of the North Star Ambulatory Assessment for Duchenne Muscular Dystrophy [CPT:...
Muscle weakness and Congenital muscular dystrophy, related diseases and genetic alterations | MENDELIAN.CO
Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing | Orphanet Journal of Rare Diseases |...
Metabolic Myopathies - Diseases | Muscular Dystrophy Association
Muscular Diseases Archives | MSD Oncology Clinical Trials
How Is Duchenne Muscular Dystrophy (DMD) Diagnosed?
From here to there: Recognizing paths leading to treatments for spinal muscular atrophy and other diseases
Spinal Muscular Atrophy Disease | Norton Children's Louisville, Ky.
Muscular Dystrophy Awareness Month: Get Involved | | Cure Rare Disease
Limb-girdle muscular dystrophy type 2H | Rare Diseases | RareGuru
New partnership for the treatment of Duchenne muscular disease (DMD)
Cell treatment slows disease in Duchenne muscular dystrophy patients - Aly News
Spinal Muscular Atrophy: Improved Recognition and Management of a Rare Disease | PCE
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | Rare Diseases | RareGuru
Duchenne muscular dystrophy - Wikipedia
Dystrophies12
- Becker muscular dystrophy (BMD ) is one of nine types of muscular dystrophies, a group of genetic, degenerative diseases primarily affecting voluntary muscles. (mda.org)
- Congenital muscular dystrophies (CMD) are extremely rare and greatly heterogeneous neuromuscular disorders with onset at birth or early infancy, characterized by hypotonia, delayed motor development, and progressive weakness. (medscape.com)
- In a study of 116 patients in the United Kingdom, the most common congenital muscular dystrophies were collagen VI-related disorders (19%), with α-dystroglycanopathy congenital muscular dystrophy (12%) and merosin-deficient congenital muscular dystrophy (MDC1A) (10%) being next in frequency. (medscape.com)
- Several authors of review articles have proposed classifications for the congenital muscular dystrophies. (medscape.com)
- Only the muscular dystrophies with known genetic mutations are discussed in more detail later in this article. (medscape.com)
- Other muscular dystrophies (including Becker muscular dystrophy ) get worse much more slowly. (medlineplus.gov)
- As a nonprofit biotech working to change the way treatments are developed for muscular dystrophies and other rare and ultra-rare diseases, increasing awareness and support for our work is critical to furthering our mission. (cureraredisease.org)
- The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration in the voluntary muscles that control movement. (drweil.com)
- 10 Muscle biopsies can differentiate muscular dystrophies from other muscle diseases, 11 however biopsy examinations can be both expensive and invasive. (nature.com)
- Background: Limb-Girdle Muscular Dystrophies (LGMD) are an inheritable group of genetic disorders primarily involving progressive weakening and atrophy of the pelvic or shoulder girdle musculature with potential cardiac dysfunction. (mdaconference.org)
- An increase in serum phosphatase activity is associated with primary hyperparathyroidism, secondary hyperparathyroidism owing to chronic renal disease, rickets, and osteitis deformans juvenilia due to vitamin D deficiency and malabsorption or renal tubular dystrophies. (cdc.gov)
- In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)
Children with spinal muscula1
- The board-certified and fellowship-trained neurologists with Norton Children's Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for children with spinal muscular atrophy (SMA) disease in Louisville, Kentucky, and Southern Indiana. (nortonchildrens.com)
Atrophy29
- Spinal muscular atrophy 1 (SMA1) , also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). (rarediseases.org)
- Among the conditions that resemble ALS are some forms of muscular dystrophy, the neurologic conditions known as spinal-bulbar muscular atrophy , intraspinal tumor, the nerve-to-muscle transmission disorder known as myasthenia gravis , and more. (mda.org)
- SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. (broadinstitute.org)
- Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. (broadinstitute.org)
- A better understanding of the needs of adults with spinal muscular atrophy (SMA), best ensuring for their mental and social - as well as physical - well-being, is necessary to guide future research, care recommendations, and policy decisions, according to a review study published in Orphanet Journal of Rare Diseases . (rehabpub.com)
- Spinal muscular atrophy (SMA) is caused by mutations that reduce the level of the survival motor neuron protein (SMN) resulting in death of alpha-motor neurons, yet it is unclear why these cells are preferentially affected by a reduction in this ubiquitously-expressed protein. (benthamscience.com)
- Spinal muscular atrophy (SMA) is a progressive, autosomal recessive neuromuscular disorder caused by a mutation of the SMN1 gene. (bmj.com)
- What Is Spinal Muscular Atrophy? (nortonchildrens.com)
- How Is Spinal Muscular Atrophy Diagnosed? (nortonchildrens.com)
- Drs. Julie Parsons and Vanessa Battista discuss the recognition and initial management of spinal muscular atrophy (SMA) at the time of diagnosis. (practicingclinicians.com)
- NPs and PAs who care for patients with spinal muscular atrophy (SMA). (practicingclinicians.com)
- Spinal muscular Atrophy (SMA) is a childhood form of Motor Neurone Disease. (abdn.ac.uk)
- Rare Disease Report: Will a Treatment for Spinal Muscular Atrophy be Available Soon? (globalgenes.org)
- In this exclusive interview with Rare Disease Report , Kenneth Fischbeck, MD, of the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland, talks about the many exciting preclinical and clinical studies that are underway to develop a treatment for patients with spinal muscular atrophy. (globalgenes.org)
- The breadth of data presented reinforces the significant and clinically meaningful efficacy of SPINRAZA on the achievement of motor milestones and measures of motor function across a broad range of individuals with spinal muscular atrophy (SMA), as well as on survival endpoints in infantile-onset SMA. (biogen.com)
- Efficacy and safety of nusinersen in genetically diagnosed infants with presymptomatic spinal muscular atrophy (SMA): Results from the second interim analysis of the ongoing, phase 2 NURTURE study. (biogen.com)
- Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): End of study results from the phase 3 CHERISH. (biogen.com)
- The Baylor Medicine Cure Spinal Muscular Atrophy Care Center clinic is dedicated to providing comprehensive and compassionate care to patients affected by spinal muscular atrophy (SMA). (bcm.edu)
- Our center is integrated with other SMA care centers to help improve the standards of care and the quality of life of patients affected by spinal muscular atrophy. (bcm.edu)
- My Child Has Spinal Muscular Atrophy: What Will Their Life Be Like? (healthline.com)
- Spinal muscular atrophy (SMA), a genetic condition, can affect all aspects of your child's day-to-day life. (healthline.com)
- One such form is spinal muscular atrophy with respiratory distress (SMARD). (healthline.com)
- Charcot-Marie-Tooth disease is a hereditary neuropathy in which the muscles of the lower legs become weak and waste away (atrophy). (msdmanuals.com)
- [ 3 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
- [ 9 ] Walton and Nattrass described the disease as a progressive muscle weakness with atrophy involving predominantly proximal muscles (eg, pelvis, shoulder). (medscape.com)
- spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. (bvsalud.org)
- to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
- patients with spinal muscular atrophy presented higher adiposity and lower chest expansion. (bvsalud.org)
- Spinal muscular atrophy (SMA) is a reces- stands out as a noninvasive and painless method, sive, autosomal neuromuscular disease character- which has already been adopted by other authors ized by degeneration of anterior horn spinal cord while evaluating SMA patients13, or children and motor cells and brain stem neurons1-5. (bvsalud.org)
Duchenne muscular dystrophy a1
- Fourteen of CRD's 19 current development programs target mutations in the dystrophin gene, which lead to Duchenne muscular dystrophy and Becker muscular dystrophy. (cureraredisease.org)
Severity8
- A Useful Severity Predictor in Muscular Dystrophy? (medscape.com)
- We'll determine the severity of your child's SMA disease and create a treatment plan that minimizes risk, so your child can get back to being a kid. (nortonchildrens.com)
- There are different types of SMA disease, each with a different level of severity. (nortonchildrens.com)
- The outlook for people with MD varies depending on the type and severity of the disease. (drweil.com)
- In addition, we studied the correlation of repeat length and methylation level within the most distal repeat unit with age-corrected clinical severity and age at disease onset in FSHD patients . (bvsalud.org)
- The strong correlation between methylation level and clinical severity indicates that the methylation level determined by FSHD-MPA accounts for differences in disease severity among individuals with similar genetic parameters . (bvsalud.org)
- The severity of cardiac disease is much gene, which is located on the Xcchromoc greater than the myopathy [ 4 ]. (who.int)
- Body girth fied by disease severity and the age at on set of measurements are frequently used in clinical prac- symptoms, namely type I for the most severe cases tice17,18 due to their practical character and low price. (bvsalud.org)
Treatments9
- This occurred because treatments are being developed that are changing the course of the disease. (rarediseases.org)
- NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. (rarediseases.org)
- Among its findings was strong support for treatments that work to stabilize their disease, preventing the loss of further mobility, including control over their fingers. (rehabpub.com)
- MDA-supported researchers are pursuing a number of promising leads in their quest to understand the causes and discover treatments for metabolic diseases of muscle. (mda.org)
- New treatments can stop the progression of SMA disease and potentially reverse some symptoms. (nortonchildrens.com)
- Sarepta Therapeutics , a U.S. commercial-stage biopharmaceutical company focused on the discovery and development of unique RNA-targeted therapeutics for the treatment of rare neuromuscular diseases , and Genethon , have signed a gene therapy research collaboration to jointly develop treatments for Duchenne muscular dystrophy (DMD). (genethon.com)
- A lot of information is available on neuromuscular diseases, treatments, and research, if you know where to look for it. (mdaquest.org)
- Dr Marita Pohlschmidt, Director of Research at the Muscular Dystrophy Campaign said: "We are at a crucial stage in research into finding treatments for Duchenne muscular dystrophy. (bionity.com)
- These findings highlight the cortico-muscular coherence as a simple, effective and clinically relevant neural marker of Parkinson's disease pathology, with the potential to aid monitoring of disease progression and the efficacy of novel treatments for Parkinson's disease. (ox.ac.uk)
Form of muscular dystrophy4
- Duchenne muscular dystrophy is a form of muscular dystrophy . (medlineplus.gov)
- Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. (drweil.com)
- Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. (nature.com)
- Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy which typically affects male infants. (nature.com)
Forms of muscular dystrophy1
- What are the symptoms and forms of muscular dystrophy? (drweil.com)
Dystrophy Association Clinic2
- Vamshi K. Rao, MD , a pediatric neurologist and the codirector of the Muscular Dystrophy Association Clinic at Lurie Children's Hospital in Chicago, laments that testing for Duchenne often happens much later than is ideal, "because people have not thought about associated features that you could catch early. (everydayhealth.com)
- New SPINRAZA data continue to reinforce the positive results seen in clinical studies and in my own practice," said Thomas Crawford, M.D., co-director, Muscular Dystrophy Association Clinic at Johns Hopkins Medicine. (biogen.com)
Types of muscular3
- Muscular Dystrophy Awareness Month takes place in September and is aimed at increasing awareness for all types of muscular dystrophy, including Duchenne muscular dystrophy and Limb-girdle muscular dystrophy, two diseases that CRD is working to treat . (cureraredisease.org)
- Throughout this month, various days are dedicated to raising awareness for different types of muscular dystrophy. (cureraredisease.org)
- The most common types of muscular dystrophy, like Duchenne's and Becker's appear to be due to a genetic mutation resulting in the absence or deficiency of dystrophin , a protein involved in maintaining the integrity of muscle. (drweil.com)
Becker3
Gene10
- Calpainopathies are diseases caused by genetic changes in the CAPN3 gene and can be autosomal recessive or autosomal dominant. (nih.gov)
- RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
- Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). (medlineplus.gov)
- The sons of women who are carriers of the disease (women with a defective gene, but no symptoms themselves) each have a 50% chance of having the disease. (medlineplus.gov)
- In creating the Rare Diseases PHGKB, we sought to connect directly the GARD database A-to-Z list of more than 5000 rare diseases with contents of PHGKB, such as epidemiologic studies of prevalence and gene-disease associations, translation and evaluation studies of interventions, implementation research studies, as well as systematic reviews and guidelines. (cdc.gov)
- Others can arise from the presence of an abnormal gene in any autosome: if the gene is dominant, it results always in what is called a dominant condition, whereas if it is recessive many of these diseases appear only when the gene is inherited from both parents (and are thus called recessive conditions). (who.int)
- for carriers of a gene and make the gene more common, even though it causes a disease when inherited from both parents. (who.int)
- That is, only one gene from one parent is required for the disease to develop. (msdmanuals.com)
- If a male inherits an X chromosome with the abnormal gene, he develops the disease. (msdmanuals.com)
- 532 disease terms (MeSH) has been reported with ACE gene. (cdc.gov)
Noncommunicable diseases7
- Multifactorial disorders are usually categorized as congenital malformations , such as neural tube defect, cleft lip and palate, or diseases with a genetic predisposition , such as some chronic, noncommunicable diseases. (who.int)
- Note: Noncommunicable diseases (NCDs) considered in this Strategy refer to four main noncommunicable diseases (cardiovascular disease, cancer, diabetes and obstructive pulmonary disease), which account for more than 65% of all deaths in Seychelles, and to four main underlying risk behaviours (tobacco use, unhealthy nutrition, physical inactivity and harmful use of alcohol). (who.int)
- The National NCD strategy is our nation's response to the increasing prevalence of noncommunicable diseases, the risk factors that lead to these conditions and the threats that they pose to the health of the Seychellois. (who.int)
- We know, from our own studies and experience, that four main noncommunicable diseases (cardiovascular disease, cancer, diabetes and obstructive pulmonary disease) account for more than 65% of all deaths in Seychelles. (who.int)
- Understanding these diseases, their risk factors, and the interplay of social, cultural and economic factors, is crucially important in developing approaches to tackling noncommunicable diseases. (who.int)
- Seychelles has done much to tackle noncommunicable diseases, and our successes in, for example, reducing the use of tobacco and the rate of high blood pressure, are encouraging signs of what can be achieved. (who.int)
- We are firmly convinced that a society that has managed to find the resources to treat noncommunicable diseases to the level of coverage, access and sophistication that we have attained, must undertake the prevention with no less commitment, investment and enthusiasm. (who.int)
20231
- 2023, Muscular Dystrophy Association Inc. All rights reserved. (mda.org)
Progression12
- What is the progression of metabolic diseases of muscle? (mda.org)
- We are now particularly interested to determine how this impacts on SMA disease development and progression. (abdn.ac.uk)
- There are over thirty variations of this disease, each one differing in terms of symptoms, distribution and extent of muscle weakness, age of onset, rate of progression, and how it is passed on. (drweil.com)
- Current methods for diagnosing DMD are often laborious, expensive, invasive, and typically diagnose the disease late in its progression. (nature.com)
- Because DMD is progressive, it is of the utmost importance to definitively diagnose the disease as early on in its progression as possible. (nature.com)
- The earlier the disease is identified, the better opportunity the afflicted individual has for seeking treatment opportunities to slow the progression of the disease phenotype. (nature.com)
- The published studies announced here explain approximately half of the variability in disease progression in Duchenne, more than double that explained previously with conventional analyses. (globalgenes.org)
- The two published studies used statistical methods to quantify and predict disease progression in Duchenne, drawing from a growing database of more than 1,000 boys with Duchenne that, in total, includes functional assessments at more than 10,000 clinic visits. (globalgenes.org)
- As a first step, we wanted to quantify the different rates of disease progression in different patients," said Mercuri. (globalgenes.org)
- classifying patients into these groups explained more than half of the variability in trajectories of disease progression. (globalgenes.org)
- There's also no cure, although riluzole ( Rilutek , Sanofi-Aventis) has been shown to slow disease progression and has been approved in the United States to treat the condition. (medscape.com)
- No treatment can stop the progression of the disease, but the use of braces and physical and occupational therapy may help people function better. (msdmanuals.com)
Diagnosis14
- GeneReviews provides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling. (nih.gov)
- According to a study published in 2011, the mean timespan between the first healthcare contact and a muscular dystrophy diagnosis is four to five years. (mdaquest.org)
- With very rare diseases like late-onset Pompe disease (LOPD), diagnosis can sometimes take 20 years or more to confirm. (mdaquest.org)
- We aim to present a decision algorithm based on muscular whole body magnetic resonance imaging (mWB-MRI) as a unique tool to orientate the diagnosis of each inherited myopathy long before the genetically confirmed diagnosis. (nih.gov)
- 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)
- Include muscular sarcocystosis in the differential diagnosis of people presenting with myalgia, with or without fever, and a history of travel to a tropical or subtropical region, especially Malaysia. (cdc.gov)
- Refer patients to a neurologist, preferably a neuromuscular specialist experienced in the diagnosis and treatment of neuromuscular diseases. (medscape.com)
- This battery of measurements are used in the diagnosis and treatment of certain liver, heart, and kidney diseases, acid-base imbalance in the respiratory and metabolic systems, other diseases involving lipid metabolism and various endocrine disorders as well as other metabolic or nutritional disorders. (cdc.gov)
- Alanine aminotransferase measurements are used in the diagnosis and treatment of certain liver diseases (e.g., viral hepatitis and cirrhosis) and heart diseases. (cdc.gov)
- Albumin measurements are used in the diagnosis and treatment of numerous diseases primarily involving the liver or kidneys. (cdc.gov)
- AST measurements are used in the diagnosis and treatment of certain types of liver and heart disease. (cdc.gov)
- BUN measurements are used in the diagnosis of certain renal and metabolic diseases. (cdc.gov)
- The control of genetic diseases should be based on an integrated and comprehensive strategy combining best possible treatment and prevention through community education, population screening, genetic counselling and the availability of early diagnosis. (who.int)
- Because substantial numbers of cases initially diagnosed as PLS would be reclassified as ALS as the disease progresses, Pringle et al suggest that a disease duration of at least 3 years is required to render this diagnosis clinically. (medscape.com)
Symptoms5
- What are the symptoms of metabolic diseases of muscle? (mda.org)
- For more, see Types of Metabolic Diseases of Muscle and Signs and Symptoms . (mda.org)
- nothing is available for patients with more advanced disease, who now outnumber those with milder symptoms. (alynews.org)
- Signs and symptoms vary according to the type of muscular dystrophy. (drweil.com)
- Moreover, the reduced cortico-muscular coherence was related to motor symptoms, so that individuals with lower cortico-muscular coherence also displayed worse motor symptoms. (ox.ac.uk)
Myopathies1
- Metabolic diseases of the muscles are metabolic myopathies that act as abnormalities of the muscles and have as the result skeletal muscle dysfunctions. (mdac.ca)
Respiratory3
- LMNA -related Congenital Muscular Dystrophy (L-CMD) is a rare genetic disorder characterized by the onset of selective axial weakness and wasting in the first year of life with limited motor achievements, associated with multiple severe contractures and frequent respiratory failure requiring early ventilatory support. (biomedcentral.com)
- In late stages of the disease, respiratory impairment and swallowing impairment can occur, which can result in pneumonia. (wikipedia.org)
- While ALS is a slowly progressive disease, a precipitous event may occur to bring the patient to the emergency department (ED), such as an infection or respiratory compromise. (medscape.com)
Mutations6
- Quijano-Roy S, Mbieleu B, Bonnemann CG, Jeannet PY, Colomer J, Clarke NF, et al: De novo LMNA mutations cause a new form of congenital muscular dystrophy. (biomedcentral.com)
- In rare cases, a genetic test for Duchenne will be inconclusive, because not all mutations causing the disease have been firmly identified. (everydayhealth.com)
- They were affected by Pompe disease or harbored mutations in RYR1, Collagen VI, LMNA, SEPN1, LAMA2 and MYH7 genes. (nih.gov)
- Prior reports stratified frequency of cardiac disease based on genetic mutations. (mdaconference.org)
- All people are at risk of diseases due to genetic mutations. (who.int)
- Mutations in all sarcoglycans, in dysferlin, and in caveolin-3, as well as mutations that cause abnormal glycosylation of alpha-dystroglycan, can result in limb-girdle muscular dystrophy. (medscape.com)
Disorder7
- Duchenne muscular dystrophy is an inherited disorder. (medlineplus.gov)
- Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy. (medlineplus.gov)
- One treatment strategy, called enzyme replacement therapy, already has led to the development of a successful commercial treatment for the metabolic disorder Pompe disease . (mda.org)
- Do you have information about a disease, disorder, or syndrome? (rareguru.com)
- Duchenne muscular dystrophy is a rare, inherited disorder that mostly affects males. (alynews.org)
- We don't have a description for this disease, disorder, or syndrome yet. (rareguru.com)
- Young was diagnosed five years ago with Friedreich's Ataxia (FA), a debilitating, life-shortening, degenerative neuro-muscular disorder. (curefa.org)
Proximal3
- Calpain-3-related limb-girdle muscular dystrophy R1 (also known as LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability. (nih.gov)
- In general, CMDs are autosomal recessive diseases resulting in severe proximal weakness at birth (or within the first 12 mo of life) that is either slowly progressive or nonprogressive. (medscape.com)
- A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. (rareguru.com)
Pathology2
- Muscular dystrophy means a group of progressive muscular diseases without a pathology. (mdac.ca)
- In 1960, Fukuyama et al described a common congenital muscular dystrophy in Japan that always had features of muscular dystrophy and brain pathology. (medscape.com)
Neurodegenerative2
- The registry Web portal included surveys on risk factors, including occupational history, military history, and family history of neurodegenerative diseases, topics that are potentially associated with the disease. (medscape.com)
- ALS, also known as Lou Gehrig disease, is the most common neurodegenerative disease of adult onset involving the motor neuron system. (medscape.com)
Clinical Trials2
- MDA's Resource Center can help you find information on genetic testing options, clinical trials, and neuromuscular disease specialists. (mdaquest.org)
- The Collaborative Trajectory Analysis Project (cTAP), a public-private partnership to accelerate data science solutions to critical problems in drug development for Duchenne Muscular Dystrophy (DMD), today announced the publication of two research studies with important implications for the design of effective clinical trials. (globalgenes.org)
Muscles10
- These sorts of diseases affect the muscles and eventually produce permanent degeneration of the muscle fibers. (mdac.ca)
- Muscles require a lot of energy to work properly, and metabolic diseases of muscle interfere with chemical reactions involved in drawing energy from food. (mda.org)
- SMA is a genetic disease that affects the part of the nervous system responsible for carrying signals from the spinal cord to muscles. (nortonchildrens.com)
- SMA disease affects muscles that control movement of the arms and legs, as well as breathing and posture. (nortonchildrens.com)
- SMA disease can cause weakness in the muscles that aid in breathing, requiring the child to need assistance with breathing and coughing. (nortonchildrens.com)
- A cell therapy developed by the executive director of the Smidt Heart Institute stabilizes weakened muscles-including the heart muscle-in Duchenne muscular dystrophy patients, a new study published in the international peer-reviewed journal The Lancet shows. (alynews.org)
- Affecting just 1 in 3000 young boys, Duchenne muscular dystrophy is a life-shortening condition, which causes muscles to weaken and waste over time leading to increasingly severe disability. (bionity.com)
- During periods of sustained muscle contraction (grip), such coupling is manifest between motor cortex and the contralateral forearm muscles-measured as the cortico-muscular coherence. (ox.ac.uk)
- Treatment was seen in the gluteus maximus and delc is primarily focused on the cardiac disease, toid muscles. (who.int)
- Diseases of the muscles and their associated ligaments and other connective tissue and of the bones and cartilage viewed collectively. (bvsalud.org)
Pediatric2
- Peripheral eosinophil count was negatively correlated with the Vignos muscle strength score in pediatric patients with Duchenne muscular dystrophy (DMD) and was found to be a protective factor for muscle strength. (medscape.com)
- This usually happens when a boy is 3 to 5 years old, and when a parent, caregiver, or doctor recognizes signs of abnormal walking, according to Leigh Maria Ramos-Platt, MD , a pediatric neurologist and the director of the Muscular Dystrophy Association Neuromuscular Clinic at Children's Hospital in Los Angeles. (everydayhealth.com)
Symptomatic1
- Recent outbreaks of symptomatic muscular sarcocystosis among tourists in Malaysia suggest that intermediate-host infection could be a public health concern. (cdc.gov)
Skeletal1
- Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
Cardiac3
- If the cardiac aspects of the disease are minimal, or if they are adequately controlled through medical intervention, a normal or nearly normal life span can be expected. (mda.org)
- Muscle weakness can also be a facet of the disease, along with cataracts, cardiac abnormalities, and endocrine disturbances (such as diabetes). (drweil.com)
- Conclusion: This is the largest study of CMR in LGMD patients, confirming presence of cardiac disease by LGE in the high risk group. (mdaconference.org)
Severe4
- Metabolic muscle diseases that have their onset in infancy tend to be the most severe, and some forms can be fatal. (mda.org)
- Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. (wikipedia.org)
- Intermediate-host infection can range from asymptomatic to severe and debilitating disease. (cdc.gov)
- Needle gressive myopathy, but the disease spectrum electromyography showed polyphasicity, includes patients whose disease is much decreased duration and latency of motor more severe [ 8 ]. (who.int)
LGMD2
- Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. (nih.gov)
- Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies. (medscape.com)
Metabolic diseases3
Neuromuscular disease3
- Aimee's experience is not unusual in the neuromuscular disease community. (mdaquest.org)
- Reach out to other people living with your neuromuscular disease to share experiences. (mdaquest.org)
- ALS is a progressive and fatal neuromuscular disease. (medscape.com)
Rare disease10
- Please note that NORD provides this information for the benefit of the rare disease community. (rarediseases.org)
- Screen4Care - Challenges in mapping European rare disease. (raredis.org)
- Below are some ways you can support our research and development, and the rare disease communities we are working to treat. (cureraredisease.org)
- The RareGuru disease database is regularly updated using data generously provided by GARD , the United States Genetic and Rare Disease Information Center. (rareguru.com)
- Another source reports DMD being a rare disease and having an occurrence of 7.1 per 100,000 male births. (wikipedia.org)
- First Medication to Treat Friedreich's Ataxia Approved on Rare Disease Day! (curefa.org)
- In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. (cdc.gov)
- The National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health has led research efforts to find effective interventions such as new and repurposed medications to reduce the burden of rare disease. (cdc.gov)
- Currently, the Rare Disease PHGKB database has information on more than 5000 conditions. (cdc.gov)
- By searching the Rare Diseases PHGKB, we also found that compared to total PHGKB records, the rare disease PHGKB has about 25% of the all human genome epidemiology studies, 27% pathogen genomic studies, 28% of guidelines, and 67% of state public health program documents in PHGKB, respectively. (cdc.gov)
Patients8
- Our multidisciplinary team, in partnership with the Muscular Dystrophy Association (MDA), sees patients in a single clinic for multiple specialties, including neurology, pulmonology, orthopedics, physical therapy, occupational therapy and speech therapy. (nortonchildrens.com)
- The event, which will take place in Tea, South Dakota will raise funds to help develop therapeutics for Sawyer (10) and Wesley (7) Bryan, who were both diagnosed with Duchenne muscular dystrophy, as well as other Duchenne patients. (cureraredisease.org)
- Connect with other caregivers and patients with Limb-girdle muscular dystrophy type 2H and get the support you need. (rareguru.com)
- If the HOPE-2 study's success is duplicated in the upcoming multicenter, randomized, placebo-controlled HOPE-3 clinical trial, the intravenous cell therapy could become the first Food and Drug Administration-approved treatment for Duchenne patients with advanced disease. (alynews.org)
- The prognosis for patients with Duchenne muscular dystrophy is bleak. (alynews.org)
- Connect with other caregivers and patients with Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies and get the support you need. (rareguru.com)
- The economic impact of rare diseases is substantial not only for affected patients and their families, but for society as a whole. (cdc.gov)
- Patients with type III get to three point of SMA children suffer from stunted develop- walking, wether or not they maintain this ability ment due to nutritional, muscular, postural and res- throughout adulthood1-3,6,7. (bvsalud.org)
Limb-girdle3
- LGMD2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. (nih.gov)
- Additionally, CRD has three therapies in the pipeline for the treatment of types 2b, 2g, and 2i of Limb-girdle muscular dystrophy. (cureraredisease.org)
- Between 1909 and 1954, many individual case reports of primary muscle disease with a limb-girdle distribution of weakness were published. (medscape.com)
Affects boys2
- BMD primarily affects boys and men, who inherit the disease through their mothers. (mda.org)
- The condition most often affects boys due to the way the disease is inherited. (medlineplus.gov)
Neurological2
- Neurological diseases are different disorders which affect the brain and nervous system. (mdac.ca)
- A neurological exam can diagnose SMA disease. (nortonchildrens.com)
Myopathy1
- From the time she was 17 months old until she was finally diagnosed with Bethlem myopathy , a type of congenital muscular dystrophy (CMD) , at age 44, she put her health and hope into the hands of a series of pediatricians, orthopedists, neurologists, and surgeons. (mdaquest.org)
Muscle weakness2
- Muscular dystrophy is not one, but multiple health issues that lead to loss of muscle mass and muscle weakness. (mdac.ca)
- The disease is characterised by a loss of motor neurones and resultant muscle weakness and inability to carry out co-ordinated motor tasks including breathing. (abdn.ac.uk)
Phenotype1
- We will now determine the ability of the best PTM to restore normal muscular phenotype, in vitro in KI myoblasts/myotubes and in vivo after injection of AAV-PTM vectors in new born homozygous and adult heterozygous mice. (biomedcentral.com)
Involvement1
- Increased levels of ALP are also associated with Von Recklinghausen's disease with bone involvement and malignant infiltrations of bone. (cdc.gov)
Weakness2
- The early onset of contractures before and slowly progressive weakness and atc the onset of any significant weakness is rophy in a humeroperoneal distribution unique to this disease. (who.int)
- At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
Type4
- This type of diseases appears when the neurons with functions in movement become damaged or die. (mdac.ca)
- It is the most common type of muscular dystrophy. (wikipedia.org)
- Type 1 SMA, or Werdnig-Hoffman disease, is usually diagnosed within the first six months of life. (healthline.com)
- Type 3 SMA, or Kugelberg-Welander disease, is usually diagnosed by age 3 but can sometimes appear later in life. (healthline.com)
Degeneration1
- Amyotrophic lateral sclerosis (ALS), also known as Charcot's disease and Lou Gehrig's disease, is a disease of unknown cause characterized by slowly progressive degeneration of upper motor neurons (UMNs) and lower motor neurons (LMNs). (medscape.com)
Scoliosis1
- Children with SMA disease are at increased risk for scoliosis. (nortonchildrens.com)
Biopsy1
- Confirmation of muscular sarcocystosis requires biopsy and histologic observation of sarcocysts in muscle. (cdc.gov)
Genes5
- Muscular dystrophy is a general term for a group of inherited diseases involving defects in the genes responsible for normal muscle functioning. (drweil.com)
- Increased knowledge of genomics over the past two decades has made it apparent that the traditional category of genetic diseases represents only those conditions in which the genetic contribution is particularly marked, whereas in fact diseases can be arrayed along a spectrum representing the varied contribution of genes and the environment. (who.int)
- The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)
- These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
- for instance, carriers of sickle-cell disease and thalassaemia genes may be protected from contracting malaria. (who.int)
Treatment3
- What is the treatment for the muscular dystrophy? (mdac.ca)
- Disease areas Broad brings people together to advance the understanding and treatment of disease. (broadinstitute.org)
- In this review, we discuss our current understanding of the contribution of NMJ dysfunction in SMA disease pathogenesis, and also provide an overview of therapies currently under preclinical and clinical development for treatment of SMA. (benthamscience.com)