Orphanet: Charcot Marie Tooth disease type 4D

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Charcot-Marie-Tooth disease type 4D

Disease definition

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.


Classification level: Disorder
  • 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: -

Detailed information

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