Preferred Label : X-linked myopathy with postural muscle atrophy;
ICD-11 definition : 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 characterized 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.;
ICD-11 synonym : XMPMA; Emery-Dreifuss muscular dystrophy 6, X-linked;
Origin ID : 420677690;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
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 characterized 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.
