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Emery-Dreifuss muscular dystrophy

Disease definition

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.

ORPHA:261

  • Synonym(s):
    • EDMD
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: G71.0
  • OMIM: 181350  300696  310300  612998  612999  614302  616516
  • UMLS: C0410189
  • MeSH: D020389
  • GARD: 6329
  • MedDRA: -

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