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

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

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (AD-CMT C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting, especially in the lower legs, and sensory loss in the feet and hands. It is caused by mutations in the GDAP1 gene. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Treatment is supportive and may include physical therapy, orthopedic devices, and medications.

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

The symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C include:

- Muscle Weakness and Atrophy in the lower legs and feet
- Loss of sensation in the lower legs and feet
- High arches of the feet
- Hammertoes
- Difficulty walking
- Loss of balance
- Difficulty climbing stairs
- Difficulty running or jumping
- Foot drop
- Abnormal gait
- Pain in the lower legs and feet
- Curvature of the spine
- Scoliosis
- Weakness in the hands and arms
- Loss of sensation in the hands and arms
- Clumsiness with the hands

What are the causes of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C?

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is caused by mutations in the SH3TC2 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of the myelin sheath, which is the protective covering that surrounds nerve cells. Mutations in the SH3TC2 gene lead to the production of an abnormally short, nonfunctional version of the protein, which disrupts the formation and maintenance of the myelin sheath. This disruption impairs the ability of nerve cells to send signals, leading to the signs and symptoms of Charcot-Marie-Tooth disease type C.

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

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 Charcot-Marie-Tooth disease type C. It involves introducing a healthy gene into the body to replace the mutated gene that causes the disease.

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

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. Smoking
7. Obesity
8. Diabetes
9. Vitamin B12 deficiency
10. Exposure to certain toxins or chemicals

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

At this time, there is no cure for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. 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 mobility, orthopedic devices such as braces and splints to help support weakened muscles, and surgery to correct foot deformities.