Catalog

X-linked myopathy with postural muscle atrophy

No MMS code

Link to WHO Definition

X-linked myopathy with postural muscle atrophy – http://id.who.int/icd/entity/420677690

X-linked myopathy with postural muscle atrophy (XMPMA) is caused by mutation in the FHL1 gene. It is a progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterised by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder.