Charcot-Marie-Tooth disease axonal type 2N
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Sign InDescription
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.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
90