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Autosomal dominant Charcot-Marie-Tooth disease type 2N
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:228174Classification level: Disorder
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