Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2A1
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.
Signs and symptoms
- Peripheral axonal neuropathy
- Distal amyotrophy
- Axonal degeneration/regeneration
- Hyporeflexia
- Facial palsy
- Decreased motor nerve conduction velocity
- Steppage gait
- Pes cavus
- Onion bulb formation
- Areflexia
Also known as: CMT2A1; Charcot-Marie-Tooth disease neuronal type 2A1; Charcot-Marie-Tooth neuropathy type 2A1; HMSN IIA1; HMSN2A1