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Autosomal dominant Charcot-Marie-Tooth disease type 2Y

What is Autosomal dominant Charcot-Marie-Tooth disease type 2Y?

A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.

Other condition names

  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
  • CMT2 due to VCP mutation
  • CMT2Y

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adult
  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.