Charcot-Marie-Tooth disease type 4A

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Synonyms: CMT4A

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe rapidly progressing demyelinating axonal or intermediate sensorimotor neuropathy usually affecting first and more severely the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy sensory loss frequent pes cavus foot deformity) patients commonly present delayed motor development vocal cord paresis mild sensory loss abolished deep tendon reflexes and skeletal deformities.

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 July 2024

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