Orphanet: Charcot Marie Tooth disease type 2R

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Charcot-Marie-Tooth disease type 2R

Disease definition

Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.


Classification level: Disorder
  • Synonym(s):
    • CMT2R
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G60.0
  • OMIM: 615490
  • UMLS: -
  • MeSH: -
  • GARD: 12451
  • MedDRA: -

Detailed information

Article for general public


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