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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
  • G60.0
  • C1832334
  • C535716
MedDRA -


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 and associated with sensorineural deafness in the majority of affected individuals that usually manifests in the third decade of life.

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 the 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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