Charcot-Marie-Tooth disease type 1C

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Synonyms: CMT1C

A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting gait difficulties parethesias decreased vibration and pain sensation or as a milder predominantly sensory form with transient paresthesias decreased sensation and distal pain in upper or lower limbs without significant motor weakness. Pes cavus is a common feature and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.

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 May 2024

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