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Facioscapulohumeral dystrophy

Disease definition

A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.


Classification level: Disorder
  • Synonym(s):
    • FSH dystrophy
    • FSHD
    • Facioscapulohumeral muscular dystrophy
    • Facioscapulohumeral myopathy
    • Landouzy-Dejerine dystrophy
    • Landouzy-Dejerine myopathy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G71.0
  • ICD-11: 8C70.3
  • OMIM: 158900  158901  600416  619477  619478
  • UMLS: C0238288
  • MeSH: D020391
  • GARD: 9941
  • MedDRA: 10064087

Detailed information

General public


Disease review articles


Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.