Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Autosomal dominant Charcot-Marie-Tooth disease type 2I

ORPHA99942
Synonym(s) CMT2I
Prevalence -
Inheritance Autosomal dominant
Age of onset Adult
ICD-10
  • G60.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Anesthesia guidelines
  • ES (2014,pdf)
  • EN (2014,pdf)
Clinical genetics review
  • EN (2014)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.