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X-linked Charcot-Marie-Tooth disease type 5

Disease definition

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

ORPHA:99014

  • Synonym(s):
    • CMT5X
    • CMTX5
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G60.0
  • OMIM: 311070
  • UMLS: C1839566
  • MeSH: -
  • GARD: 114
  • MedDRA: -

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