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Hereditary myopathy with early respiratory failure

Disease definition

A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.

ORPHA:178464

Classification level: Disorder
  • Synonym(s):
    • Edström Myopathy
    • HIBM-ERF
    • HMERF
    • Hereditary inclusion body myopathy with early respiratory failure
    • MFM-titinopathy
    • Myofibrillar myopathy with early respiratory failure
    • Myofibrillar myopathy-titinopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G71.0
  • OMIM: 603689
  • UMLS: C1863599
  • MeSH: -
  • GARD: 12591
  • MedDRA: -

Detailed information

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