Conditions / Genetic
X-linked Emery-Dreifuss muscular dystrophy 6
info · Genetic
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.
Signs and symptoms
- Achilles tendon contracture
- Skeletal muscle atrophy
- Elevated circulating creatine kinase activity
- Scoliosis
- Hamstring contractures
- Scapular winging
- Limited neck flexion
- Short neck
- Back pain
- Scapuloperoneal weakness
Also known as: EDMD6; Emery-Dreifuss muscular dystrophy 6, X-linked; XMPMA; myopathy, X-linked, with postural muscle atrophy