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Myofibrillar myopathy

Orpha number ORPHA593
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
Age of onset Adult
ICD-10
  • G71.8
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Myofibrillar myopathies (MFM) are a clinically and genetically heterogeneous group of neuromuscular disorders with a common morphological phenotype. MFM are characterized by myofibrillar structural changes comprising abnormal intracellular accumulations of the intermediate filament desmin and other proteins. The clinical manifestations are variable and the dominant clinical feature is usually a slowly progressive muscular weakness. In a subset of patients cardiomyopathy and peripheral neuropathy are also present. Onset occurs in adulthood in the majority of patients and some patients have a rapidly progressive clinical course. Diagnosis is made on the basis of muscle biopsies revealing abnormal intracellular protein inclusions. In most MFM patients, the molecular basis of the disease is unknown. A small proportion of MFM patients carry disease-associated mutations in the desmin, alphaB-crystallin, myotilin and ZASP genes. At present, there is no disease-specific therapy available.

Expert reviewer(s)

  • Pr Herbert BUDKA
  • Dr Ellen GELPI
  • Pr Christine HABERLER

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Detailed information

Clinical genetics review
  • EN (2012)
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