Charcot-Marie-Tooth disease type 4D

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Charcot-Marie-Tooth disease type 4D

Synonyms: CMT4D | HMSN, Lom type | HMSN-Lom | Hereditary motor and sensory neuropathy, Lom type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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