Autosomal dominant Charcot-Marie-Tooth disease type 2D

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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.

Synonyms: CMT2D

This is just here as a test because I lose it

Term information

database cross reference
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OMIM:601472
ICD-10:G60.0
UMLS:C1832274

notation

ORPHA:99938