About Autosomal dominant Charcot-Marie-Tooth disease type 2G

What is Autosomal dominant Charcot-Marie-Tooth disease type 2G?

Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) 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. CMT2G is caused by mutations in the GARS gene, which is responsible for producing the glycine-rich protein. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Treatment is focused on managing symptoms and preventing further progression of the disease.

What are the symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2G?

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2G can vary from person to person, but generally include:

- Muscle Weakness and wasting in the lower legs and feet
- High arches of the feet
- Hammertoes
- Loss of sensation in the feet and lower legs
- Difficulty walking
- Loss of balance
- Difficulty climbing stairs
- Difficulty running or jumping
- Pain in the feet and lower legs
- Curvature of the spine
- Abnormal gait

What are the causes of Autosomal dominant Charcot-Marie-Tooth disease type 2G?

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

What are the treatments for Autosomal dominant Charcot-Marie-Tooth disease type 2G?

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: Pain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), may be prescribed to reduce pain and inflammation.

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

6. Splints: Splints may be used to help keep the feet in a neutral position and reduce pain.

What are the risk factors for Autosomal dominant Charcot-Marie-Tooth disease type 2G?

1. Family history: Having a parent or close relative with CMT2G increases the risk of developing the condition.

2. Age: CMT2G is more common in adults than in children.

3. Gender: CMT2G is more common in males than in females.

4. Ethnicity: CMT2G is more common in people of European descent.

Is there a cure/medications for Autosomal dominant Charcot-Marie-Tooth disease type 2G?

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