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Charcot-Marie-Tooth disease type 4D

Orpha number ORPHA99950
Synonym(s) CMT4D
HMSN, Lom type
Hereditary motor and sensory neuropathy, Lom type
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • G60.0
OMIM
UMLS
  • C1832334
MeSH
  • C535716
MedDRA -
SNOMED CT -

Summary

Charcot-Marie-Tooth disease type 4D is a severe form of Charcot-Marie-Tooth disease (type 4; see this term), a demyelinating peripheral sensorimotor polyneuropathy, with onset usually occurring in childhood associated with sensorineural deafness in the majority of affected individuals with onset usually occurring in the third decade. Charcot-Marie-Tooth disease type 4D is caused by a single ancestral mutation (R148X) in the N-myc downstream-regulated gene 1 (NDRG1), mapped to chromosome 8q24 and almost exclusively reported in Bulgarian Romani community of Lom on the Danube.


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Detailed information

Summary information
Anesthesia guidelines
  • EN (2014,pdf)
Clinical genetics review
  • EN (2014)
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