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Autosomal recessive Charcot-Marie-Tooth disease type 2X

Disease definition

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.


Classification level: Disorder
  • Synonym(s):
    • ARCMT2X
    • Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
    • CMT2X
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: -
  • OMIM: 616668
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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