Conditions / Musculoskeletal
Charcot-Marie-Tooth disease, axonal type 2W
info · Musculoskeletal
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.
Signs and symptoms
- Hyperactive patellar reflex
- Steppage gait
- Gait disturbance
- Pes cavus
- Distal amyotrophy
- Distal muscle weakness
- Peripheral neuropathy
- Distal sensory impairment
- Absent Achilles reflex
- Hammertoe
Also known as: CMT2W; Charcot-Marie-Tooth neuropathy type 2W; autosomal dominant axonal Charcot-Marie-Tooth disease type 2W