Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) 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. CMT2D 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 can range from mild to severe. Treatment is focused on managing symptoms and preventing complications.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) 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 2D 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 impairs the ability of nerve cells to send signals, leading to the signs and symptoms of Charcot-Marie-Tooth disease type 2D.

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 2D. 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 CMT2D increases the risk of developing the condition.

2. Age: CMT2D is more common in adults than in children.

3. Gender: CMT2D is more common in males than in females.

4. Ethnicity: CMT2D is more common in people of European descent.

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2D. 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.