Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a rare inherited neurological disorder that affects the peripheral nerves. It is caused by mutations in the SH3TC2 gene, which is responsible for the production of a protein that helps maintain the structure and function of the peripheral nerves. Symptoms of CMT2M include muscle weakness and wasting, foot deformities, and sensory loss.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2M include:

-Muscle Weakness and wasting in the lower legs and feet
-High arches of the feet
-Foot drop
-Decreased sensation in the feet and lower legs
-Loss of reflexes in the lower legs
-Pain in the feet and lower legs
-Gait abnormalities
-Claw-like deformity of the toes
-Scoliosis
-Loss of balance and coordination

Autosomal dominant Charcot-Marie-Tooth disease type 2M 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 2M.

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 2M. 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 CMT2M increases the risk of developing the condition.

2. Age: CMT2M is more common in adults than in children.

3. Gender: CMT2M is more common in males than in females.

4. Ethnicity: CMT2M is more common in people of European descent.

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