Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs, feet, and hands, as well as sensory loss in the feet and hands. CMT2L is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) include:

-Muscle Weakness and Atrophy in the lower legs and feet
-High arches of the feet
-Foot drop
-Loss of sensation in the feet and lower legs
-Gait abnormalities
-Pain in the feet and lower legs
-Decreased reflexes in the lower legs
-Decreased muscle strength in the hands and arms
-Difficulty with fine motor skills
-Loss of sensation in the hands and arms
-Scoliosis
-Tremors

Autosomal dominant Charcot-Marie-Tooth disease type 2L is caused by mutations in the SH3TC2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of the peripheral nervous system. Mutations in this gene lead to the production of an abnormal version of the protein, which disrupts the normal functioning of the peripheral nerves.

1. Physical therapy: Physical therapy can help improve muscle strength, coordination, and balance. It can also help reduce pain and improve mobility.

2. Assistive devices: Assistive devices such as braces, canes, and walkers can help improve mobility and reduce pain.

3. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants can help reduce pain and improve muscle strength.

4. Surgery: Surgery may be recommended to correct foot deformities or to release tight tendons.

5. Gene therapy: Gene therapy is a new treatment option that is being studied for Charcot-Marie-Tooth disease type 2L. It involves introducing a healthy gene into the body to replace the mutated gene that causes the disease.

1. Family history: Having a parent or sibling with the condition increases the risk of developing it.

2. Age: The condition is more common in adults than in children.

3. Gender: Men are more likely to develop the condition than women.

4. Ethnicity: Autosomal dominant Charcot-Marie-Tooth disease type 2L is more common in people of European descent.

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2L. However, there are medications and treatments available to help manage the symptoms of the disease. These include medications to reduce pain, physical therapy to help maintain muscle strength and mobility, orthopedic devices such as braces and splints, and surgery to correct foot deformities.