Conditions / Musculoskeletal
Charcot-Marie-Tooth disease recessive intermediate D
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.
Signs and symptoms
- Hyporeflexia
- Steppage gait
- Pes cavus
- Onion bulb formation
- Areflexia
- Foot dorsiflexor weakness
- Peripheral neuropathy
- Distal sensory impairment
Also known as: CMTRID; RI-CMT type D; autosomal recessive intermediate Charcot-Marie-Tooth disease type D