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Autosomal dominant Charcot-Marie-Tooth disease type 2D

ORPHA99938
Synonym(s) CMT2D
Prevalence -
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • G60.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. 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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