Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2B
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Steppage gait
- Fasciculations
- Sensorimotor neuropathy
- Foot osteomyelitis
- Pes cavus
- Impaired distal tactile sensation
- Decreased compound muscle action potential amplitude
- Distal lower limb muscle weakness
- Absent Achilles reflex
Also known as: CMT2B; Charcot-Marie-Tooth neuropathy type 2B; HMSN IIB; HMSN2B; autosomal dominant Charcot-Marie-Tooth disease type 2B