Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G
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.
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 — per MONDO