Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) 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. CMT2U is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Treatment is supportive and may include physical therapy, orthopedic devices, and medications to reduce pain and improve mobility.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2U 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 2U is caused by mutations in the GJB1 gene. This gene provides instructions for making a protein called connexin 32, which is involved in the formation of gap junctions. Gap junctions are channels that allow small molecules to pass between cells. Mutations in the GJB1 gene reduce the amount of functional connexin 32 protein, which disrupts the formation of gap junctions and affects the communication between cells. This disruption leads to the signs and symptoms of Charcot-Marie-Tooth disease type 2U.

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 2U. 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 CMT2U increases the risk of developing the condition.

2. Age: CMT2U is more common in adults than in children.

3. Gender: CMT2U is more common in males than in females.

4. Ethnicity: CMT2U is more common in people of European descent.

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