Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E
Definition
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 autosomal recessive congenital hypomyelinating neuropathy, Charcot-Marie-Tooth disease type 4E, CMT4E, hypomyelinating neuropathy, congenital, 1, Neuropathy, Congenital Hypomyelination — per MONDO