Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Autosomal dominant Charcot-Marie-Tooth disease type 2C

Disease definition

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.


  • Synonym(s):
    • CMT2C
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 606071
  • UMLS: C1853710
  • MeSH: -
  • GARD: 1250
  • MedDRA: -

Detailed information

Article for general public


Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.