Orphanet: Autosomal recessive intermediate Charcot Marie Tooth disease type A
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Disease definition

A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.

ORPHA:217055

Classification level: Disorder
  • Synonym(s):
    • RI-CMT type A
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 608340
  • UMLS: C1842197
  • MeSH: -
  • GARD: 12453
  • MedDRA: -

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