Autosomal dominant Charcot-Marie-Tooth disease type 2N

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Name:
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Description:
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.
ORPHAcode:
228174
Synonyms:
CMT2N
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14