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Autosomal dominant Charcot-Marie-Tooth disease type 2I
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.
ORPHA:99942Classification level: Disorder
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