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Charcot-Marie-Tooth disease type 4D

Disease definition

Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by a gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade, and sensorineural deafness usually manifesting in the second or third decade of life.

ORPHA:99950

  • Synonym(s):
    • CMT4D
    • HMSN, Lom type
    • HMSN-Lom
    • Hereditary motor and sensory neuropathy, Lom type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G60.0
  • OMIM: 601455
  • UMLS: C1832334
  • MeSH: C535716
  • GARD: 3973
  • MedDRA: -

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