/Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4G

Rare Disease

MONDO:0011534

Also Known As

CMT4GCharcot-Marie-Tooth disease type 4 caused by mutation in HK1Charcot-Marie-Tooth neuropathy type 4GHK1 Charcot-Marie-Tooth disease type 4HMSNRautosomal recessive Charcot-Marie-Tooth disease type 4Ghereditary motor and sensory neuropathy Russe typehereditary motor and sensory neuropathy, Russe typeCharcot-Marie-Tooth disease, autosomal recessive, type 4GCharcot-Marie-Tooth disease, type 4GCharcot-Marie-Tooth neuropathy, type 4Gneuropathy, hereditary motor and sensory, Russe type

Definition

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.