Charcot-Marie-Tooth disease type 4G (Q104667)

Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy identified in Bulgarian, Romanian, French, and Spanish Gypsies and is also referred to as hereditary motor and sensory neuropathy-Russe (HMSNR). Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature.