Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2A2

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Autosomal dominant Charcot-Marie-Tooth disease type 2A2

Disease definition

A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.


Classification level: Disorder
  • Synonym(s):
    • CMT2A2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 609260
  • UMLS: C1836485
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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