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Charcot-Marie-Tooth disease type 2B2

Orpha number ORPHA101101
Synonym(s) AR-CMT2B2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adult
ICD-10
  • G60.0
ICD-O -
OMIM
UMLS
  • C1854150
MeSH
  • C537991
MedDRA -
SNOMED CT -

Summary

Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. CMT2B2 is transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25).

Expert reviewer(s)

  • Dr Carmen ESPINÓS
  • Pr Francesc PALAU

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Detailed information

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