Autosomal dominant Charcot-Marie-Tooth disease type 2I (AD-CMT2I) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. It is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms usually begin in childhood or adolescence and worsen over time. Treatment is supportive and may include physical therapy, orthopedic devices, and medications.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) 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
-Clumsiness
-Difficulty with fine motor skills
-Pain in the feet and lower legs
-Decreased reflexes in the lower legs
-Scoliosis
-Tremors

Autosomal dominant Charcot-Marie-Tooth disease type 2I is caused by mutations in the SH3TC2 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of the myelin sheath, which is the protective covering that surrounds nerve cells. Mutations in the SH3TC2 gene lead to the production of an abnormally short, nonfunctional version of the protein, which disrupts the formation and maintenance of the myelin sheath. This disruption leads to the signs and symptoms of Charcot-Marie-Tooth disease type 2I.

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 2I. 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 CMT2I increases the risk of developing the condition.

2. Age: CMT2I is more common in adults than in children.

3. Gender: CMT2I is more common in males than in females.

4. Ethnicity: CMT2I is more common in people of European descent.

Unfortunately, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2I. However, there are medications and treatments available to help manage the symptoms. 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.