/Charcot-Marie-Tooth disease axonal type 2K

Charcot-Marie-Tooth disease axonal type 2K

Rare Disease

MONDO:0011916

Also Known As

ARCMT2KCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2KCharcot-Marie-Tooth neuropathy axonal type 2Kautosomal recessive Charcot-Marie-Tooth disease with hoarsenessautosomal recessive axonal CMT4C4autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2Kautosomal recessive axonal Charcot-Marie-Tooth disease type 2KCMT2KCharcot-Marie-Tooth disease, autosomal dominant, type 2KCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2KCharcot-Marie-Tooth disease, axonal, type 2KCharcot-Marie-Tooth neuropathy, axonal, type 2K

Definition

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.