Charcot-Marie-Tooth disease axonal type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2N is a mild form of a disorder called axonal Charcot-Marie-Tooth disease. It is a type of peripheral sensorimotor neuropathy, which means that it primarily affects the nerves in the arms and legs. In people with this condition, there is damage to the nerves that control sensation and movement, particularly in the lower legs. This condition is characterized by slow progression, with symptoms often starting in the distal legs. Changes in nerve function can lead to sensory loss, weakness that may be unequal between limbs, and reduced reflexes in the knees and ankles.

People with this condition often experience sensory loss in the distal legs along with weakness that may be asymmetric. Tendon reflexes, such as those in the knees, are typically reduced and can be absent in the ankles.

This condition is caused by genetic changes and is inherited in an autosomal dominant pattern. It is linked to mutations in the AARS1 gene, which plays a role in the normal function of nerve cells.

Information about treatment is currently limited for this condition.

The disease usually progresses slowly and is considered a mild form of axonal Charcot-Marie-Tooth disease. While there may be ongoing challenges related to sensory loss and muscle weakness in the legs, the gradual progression suggests that many people maintain mobility and independence for some time.

Information about research is currently limited for this condition.