Conditions / Musculoskeletal
distal myopathy 4
info · Musculoskeletal
A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
Signs and symptoms
- Abnormal calf musculature morphology
- Skeletal muscle atrophy
- Hyporeflexia
- Myopathy
- Mildly elevated creatine kinase
- Cardiomyopathy
- Muscle weakness
- Distal upper limb amyotrophy
- Proximal muscle weakness
- Thenar muscle weakness
Also known as: MPD4; distal ABD-filaminopathy; distal muscular dystrophy 4; distal myopathy with posterior leg and anterior hand involvement