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Charcot-Marie-Tooth disease type 4D

rare

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.

Causal genes
NDRG1
Also known as
Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1 · Charcot-Marie-Tooth disease, type 4D · CMT4D · hereditary motor ABD sensory neuropathy Lom type · hereditary motor and sensory neuropathy, Lom type

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