The portal for rare diseases and orphan drugs

There is no disease so rare
that it does not deserve attention

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	Variable

ICD-10	G60.0
OMIM	613287
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.

Last update: February 2012

Suggest an update

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment: *

Epidemiology data

Clinical signs

Nomenclature and/or coding

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.

Your message * (3000 characters remaining)

Check this box if you wish to receive a copy of your message

Please reproduce the text below

Detailed information
Clinical genetics review	EN (2013)

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.