Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.

Also known as: CMT4E, Charcot-Marie-Tooth disease type 4E, Neuropathy, Congenital Hypomyelination, autosomal recessive congenital hypomyelinating neuropathy, hypomyelinating neuropathy, congenital, 1, CHN, CHN1, CMT 4E

9 clinical trials for this condition and its sub-types.