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Autosomal dominant Charcot-Marie-Tooth disease type 2N
Disease definition
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.
ORPHA:228174
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Español (2014, pdf)
- English (2014, pdf)
- Deutsch (2014, pdf)
- Clinical practice guidelines
- Deutsch (2015)
- Clinical genetics review
- English (2016)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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.