X-linked myopathy with postural muscle atrophy (XMPMA)

Genetics

• X-linked recessive
• associated with defects in FHL1

Clinical manifestations

• weakness & atrophy of voluntary skeletal muscle
• adult-onset*
• pseudoathletic phenotype*
• scapuloperoneal weakness*
• bent spine*

* distinguishes from other myopathies

More general terms

• genetic disease of muscle (inherited myopathy)
• X-linked disease

Database

• OMIM: https://mirror.omim.org/entry/300696