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

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

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (AD-CMT type E) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. It is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.

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

The symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-E) include:

- Muscle Weakness and Atrophy 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 intermediate Charcot-Marie-Tooth disease type E?

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is caused by mutations in the GJB1 gene, which encodes the protein connexin 32. Mutations in this gene can lead to a decrease in the amount of connexin 32 protein, which is necessary for the proper functioning of the peripheral nerves.

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

1. Physical therapy: Physical therapy can help to improve muscle strength, coordination, and balance. It can also help to reduce pain and improve mobility.

2. Assistive devices: Assistive devices such as braces, canes, and walkers can help to improve mobility and reduce the risk of falls.

3. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants can help to 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 the treatment of Charcot-Marie-Tooth disease type E.

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

1. Family history of the disorder
2. Mutations in the SH3TC2 gene
3. Age of onset (usually between 20 and 40 years old)
4. Gender (more common in males)
5. Ethnicity (more common in Caucasians)
6. Exposure to certain environmental toxins or chemicals

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

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