Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 1B
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
Signs and symptoms
- Decreased motor nerve conduction velocity
- Distal amyotrophy
- Distal muscle weakness
- Distal sensory impairment
- Pes cavus
- Areflexia
- Kyphoscoliosis
- Peripheral demyelination
- Steppage gait
- Ulnar claw
Also known as: CMT1B; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth neuropathy type 1B; HMSN IB; HMSN1B