Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) 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. CMT2C is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure and function of peripheral nerves.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) 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
-Difficulty walking
-Clumsiness
-Difficulty running or climbing stairs
-Difficulty with fine motor skills, such as buttoning a shirt or writing
-Curvature of the spine (scoliosis)
-Tremors
-Muscle cramps
-Fatigue

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) 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 abnormal version of the protein, which disrupts the formation and maintenance of the myelin sheath. This disruption causes the signs and symptoms of CMT2C.

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 2C. It involves introducing a healthy gene into the body to

1. Family history: Having a parent or sibling with CMT2C increases the risk of developing the condition.

2. Age: CMT2C is most commonly diagnosed in people between the ages of 20 and 40.

3. Gender: CMT2C is more common in males than females.

4. Ethnicity: CMT2C is more common in people of European descent.

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2C. However, there are medications that can help manage the symptoms of the disease. These medications include anticonvulsants, muscle relaxants, and pain relievers. Physical therapy and occupational therapy can also help to improve muscle strength and coordination.