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

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

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) 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. CMT2E is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. This protein is essential for the proper functioning of the peripheral nerves.

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

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) 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
- Foot drop (inability to lift the front part of the foot)
- Weakness in the hands and arms

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

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) 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 CMT2E.

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

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

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

1. Family history: Having a parent or close relative with CMT2E increases the risk of developing the condition.

2. Age: CMT2E is most commonly diagnosed in people between the ages of 20 and 40.

3. Gender: CMT2E is more common in males than females.

4. Ethnicity: CMT2E is more common in people of European descent.

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

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