Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Detection of autoantibodies can provide more important clinical information in assigning patients to clinical subsets, selecting a therapy and predicting prognosis. Muscle biopsy is the principal examination for a diagnosis of myositis; however, autoantibody detection is also useful. Myositis-associated autoantibodies, detected in 30% of myositis patients, can be screened by RNA immunoprecipitation assay. Some case series have revealed that the anti-SRP antibody, detected in 5-8% of polymyositis patients, was generally associated with severe and refractory polymyositis. However, it has been accepted that anti-SRP myopathy should be separated from polymyositis based on histological and clinical features. Some patients with anti-SRP myopathy show chronic progression indistinguishable from muscular dystrophy.
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PMID:[Anti-SRP myopathy]. 2227 39

Necrotizing myopathies (NM) are defined by histological features. Muscle biopsy demonstrates marked muscle necrosis with regeneration, with little or an absence of inflammatory infiltrate. Histological pattern of NM is unspecific and can be encountered in diverse conditions as acquired myopathies and muscular dystrophies. Among acquired forms of NM, necrotizing autoimmune myopathy (NAM) is a recently recognized sub-group of the idiopathic inflammatory myopathies. Classically, patients present with a subacute severe proximal myopathy, associated with a markedly elevated creatine kinase level, usually greater than 10 times the upper limit of normal. Nevertheless, the clinical presentation can be misleading, with chronic course mimicking muscular dystrophy. Different forms of NAM can be distinguished with various underlying inciting conditions, including autoantibodies to the SRP, autoantibodies to the HMG-CoA reductase, association to connective tissue disease or underlying malignancy. Other associated conditions need yet to be identified. To confirm a diagnosis of NAM, other causes of NM should be excluded as toxic myopathies, muscular dystrophies and other inflammatory myopathies with a misleading histological pattern. NAM is a rare condition but is probably underdiagnosed. Both clinicoserologic and pathologic data must be taken into account to improve this diagnosis. We propose guidelines for diagnosis of NAM according to clinical course, to be used in clinical practice.
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PMID:[Necrotizing myopathies: From genetic to acquired forms]. 2435 26

Over the past few years, myositis-specific autoantibodies played an increasing role in the inflammatory idiopathic myositis definition. They became the critical immunological marker for immune-mediated necrotizing myopathy diagnosis (IMNM) since the paradigm switch from histological to serological criteria. This review is focused on the key role of the anti-signal recognition particle (anti-SRP) and the anti-3-Hydroxy-3-MethylGlutaryl-Coenzyme A Reductase (anti-HMGCR) antibodies in immune-mediated necrotizing myopathy. Anti-SRP and anti-HMGCR antibodies are robust diagnostic tools in case of both the classical subacute form and the slowly progressive form of IMNM that may mimic muscular dystrophy. Anti-SRP and anti-HMGCR patients share clinical, biological and histological features with some antibody-associated specificity. Anti-SRP patients harbour more severe muscle weakness and atrophy with severe muscle damage on magnetic resonance imaging study. Approximately 10-20% of anti-SRP patients develop extramuscular symptoms, especially lung interstitial disease. Conversely, anti-HMGCR patients are often associated with statin exposure. In both cases, patients have a poor outcome with frequent relapse and the use of combined immunotherapy. Of note, various data suggest a direct pathogenic role of these antibodies reinforcing the interest in targeted therapeutic strategy.
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PMID:Myositis-specific autoantibodies, a cornerstone in immune-mediated necrotizing myopathy. 3063 49