Preferred Label : Charcot-Marie-Tooth disease type 4A;
ICD-11 definition : Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating
CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation
and progressive scoliosis. CMT4A is considered as the most frequent of all autosomal
recessive forms of CMT.;
Origin ID : 1476665103;
Currated CISMeF NLP mapping
Charcot-Marie-Tooth disease, type 4A (CMT4A) is a severe, early-onset form of demyelinating
CMT peripheral sensorimotor polyneuropathy characterized by severe motor retardation
and progressive scoliosis. CMT4A is considered as the most frequent of all autosomal
recessive forms of CMT.