/Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4E

Rare Disease

MONDO:0011527

Also Known As

CMT4ECharcot-Marie-Tooth disease type 4ECharcot-Marie-Tooth neuropathy type 4ENeuropathy, Congenital Hypomyelinationautosomal recessive congenital hypomyelinating neuropathyautosomal recessive congenital hypomyelinating or amyelinating neuropathyhypomyelinating neuropathy, congenital, 1neuropathy, congenital hypomyelinating, 1CHNCHN1CMT 4ECharcot Marie Tooth disease type 4ECharcot-Marie-Tooth disease, type 4ECharcot-Marie-Tooth neuropathy, type 4ENEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVEcongenital hypomyelinating neuropathy (CHN)congenital hypomyelination neuropathyhypomyelination, Severe congenitalneuropathy, congenital hypomyelinatingneuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessiveneuropathy, congenital hypomyelinating, autosomal dominant

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.