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Charcot-Marie-Tooth disease type 1B

ORPHA101082
Synonym(s) CMT1B
Prevalence -
Inheritance Autosomal dominant
Age of onset Infancy
Childhood
Adolescent
Adult
ICD-10
  • G60.0
OMIM
UMLS
  • C0270912
MeSH -
MedDRA -

Summary

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.

Expert reviewer(s)

  • Dr Davide PAREYSON
  • Dr Chiara PISCIOTTA

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