Charcot-Marie-Tooth disease type 2I
Your Results
Sign InDescription
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.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
13