Charcot-Marie-Tooth disease type 2C (Q104270): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Changed an Item
‎Changed an Item
Property / Verification Status
 
Concluído
Property / Verification Status: Concluído / rank
 
Normal rank

Revision as of 10:08, 17 August 2026

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised 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.
Language Label Description Also known as
default for all languages
ID_2074400987
    English
    Charcot-Marie-Tooth disease type 2C
    Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised 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.

      Statements

      CID11:ID_2074400987
      0 references
      dki-india-ID_2074400987
      0 references
      Concluído
      0 references