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Autosomal dominant Charcot-Marie-Tooth disease type 2N

Orpha number ORPHA228174
Synonym(s) CMT2N
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • G60.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


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Detailed information

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