Charcot-Marie-Tooth disease type 4C

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Charcot-Marie-Tooth disease type 4C

Synonyms: CMT4C

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild demyelinating sensorimotor neuropathy that contrasts with a severe rapidly progressing early-onset scoliosis and the typical CMT phenotype (i.e. distal muscle weakness and atrophy sensory loss and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have 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 Data version February 2024

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