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Autosomal dominant Charcot-Marie-Tooth disease type 2E

Orpha number ORPHA99939
Synonym(s) CMT2E
Prevalence -
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • G60.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


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Detailed information

Anesthesia guidelines
  • ES (2014,pdf)
  • EN (2014,pdf)
Clinical genetics review
  • EN (2011)
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