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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	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

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Detailed information
Clinical genetics review	EN (2013)

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