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Charcot-Marie-Tooth disease type 4G

rare

Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.

Identifiers
MONDO:0011534 OMIM:605285Orphanet:99953
Causal genes
HK1
Part of
Charcot-Marie-Tooth disease type 4Disorder of glycolysisMotor peripheral neuropathy
Also known as
Charcot-Marie-Tooth disease type 4 caused by mutation in HK1 · CMT4G · hereditary motor and sensory neuropathy, Russe type · HK1 Charcot-Marie-Tooth disease type 4 · HMSNR

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