Charcot-Marie-Tooth disease type 4B3

Orpha code: 363981OMIM code: 615284

Definition

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

Disease data
Classification

Disease

Synonyms
CMT4B3
Choroba Charcota, Mariego i Tootha z ogniskowym pofałdowaniem mieliny
CMT4B3
Charcot-Marie-Tooth disease with focally folded myelin
ORPHA code
363981
OMIM code
615284
ICD10 code
G60.0
ICD11 code
-

No additional description.

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