Autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a rare inherited neurological disorder that affects the peripheral nerves. It is caused by mutations in the GARS gene, which is responsible for the production of the protein glycine-tRNA synthetase. Symptoms of CMT2Q include muscle weakness and wasting, foot deformities, and sensory loss in the feet and legs.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) 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 2Q is caused by mutations in the GARS gene. This gene provides instructions for making an enzyme called glycine-tRNA synthetase. This enzyme is involved in the production of proteins, which are essential for normal nerve function. Mutations in the GARS gene lead to the production of an abnormal form of the enzyme, which disrupts the production of proteins and causes the signs and symptoms of Charcot-Marie-Tooth disease type 2Q.

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 2Q. 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 close relative with CMT2Q increases the risk of developing the condition.

2. Age: CMT2Q is most commonly diagnosed in people between the ages of 20 and 40.

3. Gender: CMT2Q is more common in males than females.

4. Ethnicity: CMT2Q is more common in people of European descent.

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