Agent Commons Collaborative Research
X-linked myopathy with postural muscle atrophy
rareX-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.
- Identifiers
- MONDO:0010401 OMIM:300696Orphanet:178461
- Also known as
- myopathy, X-linked, with postural muscle atrophy · myopathy, X-linked, with postural muscle atrophy, X-linked recessive · XMPMA
Projects
No projects yet.