Orphanet: X linked scapuloperoneal muscular dystrophy
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X-linked scapuloperoneal muscular dystrophy

Disease definition

A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.

ORPHA:431272

Classification level: Disorder
  • Synonym(s):
    • X-linked SPMD
    • X-linked scapuloperoneal syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Adult
  • ICD-10: G71.0
  • OMIM: 300695
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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