Charcot-Marie-Tooth disease axonal type 2H
Charcot-Marie-Tooth disease axonal type 2H
Definition
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
Also known as AR-CMT2C, autosomal recessive axonal CMT4C2, axonal Charcot-Marie-Tooth disease with pyramidal involvement, Charcot-Marie-Tooth disease type 2H, CMT2H — per MONDO