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Facioscapulohumeral dystrophy

Disease definition

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

ORPHA:269

  • Synonym(s):
    • FSH dystrophy
    • FSHD
    • Facioscapulohumeral muscular dystrophy
    • Facioscapulohumeral myopathy
    • Landouzy-Dejerine myopathy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 158900  158901  600416
  • UMLS: C0238288
  • MeSH: -
  • GARD: 9941
  • MedDRA: 10064087

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