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Autosomal dominant Charcot-Marie-Tooth disease type 2L

Orpha number ORPHA99945
Synonym(s) CMT2L
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • G60.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


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Detailed information

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