Autosomal dominant Charcot-Marie-Tooth disease type 2V (CMT2V) 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. CMT2V is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure of the peripheral nerves.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2V (CMT2V) include:

-Muscle Weakness and wasting in the lower legs and feet
-High arches of the feet
-Foot drop
-Loss of sensation in the feet and lower legs
-Pain in the feet and lower legs
-Difficulty walking
-Clumsiness
-Difficulty with fine motor skills
-Loss of reflexes in the lower legs
-Scoliosis
-Tremors
-Difficulty with balance and coordination

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

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

4. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants may be prescribed to help manage symptoms.

5. Orthotics: Orthotics, such as custom-made shoe inserts, can help reduce pain and improve mobility.

6. Gene therapy: Gene therapy is a promising new treatment for Charcot-Marie-Tooth disease type 2V. It involves introducing a healthy gene into the body to

1. Family history: Having a parent or sibling with CMT2V increases the risk of developing the condition.

2. Age: CMT2V is more common in adults than in children.

3. Gender: CMT2V is more common in males than in females.

4. Ethnicity: CMT2V is more common in people of European descent.

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2V. 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 coordination, orthopedic devices to help with mobility, and surgery to correct foot deformities.