/Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4D

Rare Disease

MONDO:0011085

Also Known As

CMT4DCharcot-Marie-Tooth disease type 4 caused by mutation in NDRG1Charcot-Marie-Tooth disease type 4DCharcot-Marie-Tooth neuropathy type 4DHMSN Lom typeHMSN, Lom typeHMSN-LomHMSN4DHMSNLNDRG1 Charcot-Marie-Tooth disease type 4autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4Dhereditary motor ABD sensory neuropathy Lom typehereditary motor and sensory neuropathy, Lom typeCharcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4DCharcot-Marie-Tooth disease, type 4DCharcot-Marie-Tooth neuropathy, type 4DNMSLneuropathy, hereditary motor and sensory, Lom type

Definition

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.