Orphanet: Myopathic Ehlers Danlos syndrome
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Myopathic Ehlers-Danlos syndrome

Disease definition

A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.

ORPHA:536516

Classification level: Disorder
  • Synonym(s):
    • EDS/myopathy overlap syndrome
    • Myopathic EDS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: Q79.6
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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