Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 1D
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
Signs and symptoms
- Decreased motor nerve conduction velocity
- Distal muscle weakness
- Foot dorsiflexor weakness
- Peripheral neuropathy
- Steppage gait
- Distal amyotrophy
- Upper limb muscle weakness
Also known as: CMT1D; Charcot-Marie-Tooth neuropathy type 1D; HMSN ID; HMSN1D; hereditary motor and sensory neuropathy 1D