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X-linked myopathy with postural muscle atrophy

Disease definition

X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

ORPHA:178461

Classification level: Disorder
  • Synonym(s):
    • XMPMA
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adult
  • ICD-10: G71.0
  • OMIM: 300696
  • UMLS: C2678055
  • MeSH: -
  • GARD: -
  • MedDRA: -
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