About MME-related autosomal dominant Charcot Marie Tooth disease type 2

What is MME-related autosomal dominant Charcot Marie Tooth disease type 2?

MME-related autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) is a rare inherited neurological disorder that affects the peripheral nerves. It is caused by mutations in the MME gene, which is responsible for producing the myelin sheath that surrounds and protects nerve fibers. Symptoms of CMT2 include muscle weakness, foot deformities, and impaired sensation in the feet and lower legs.

What are the symptoms of MME-related autosomal dominant Charcot Marie Tooth disease type 2?

The symptoms of MME-related autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) 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
- Loss of reflexes in the lower legs
- Difficulty walking
- Difficulty running or climbing stairs
- Difficulty with fine motor skills
- Loss of balance
- Pain in the feet and lower legs
- Curvature of the spine
- Scoliosis
- Foot drop

What are the causes of MME-related autosomal dominant Charcot Marie Tooth disease type 2?

The causes of MME-related autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) are mutations in the MME gene. This gene provides instructions for making a protein called myelin membrane protein 2, which is found in the myelin sheath, a protective covering that surrounds nerve cells. Mutations in the MME gene lead to the production of an abnormal version of the myelin membrane protein 2, which disrupts the structure and function of the myelin sheath. This disruption impairs the ability of nerve cells to transmit signals, leading to the signs and symptoms of CMT2.

What are the treatments for MME-related autosomal dominant Charcot Marie Tooth disease type 2?

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 deformities or to improve mobility.

4. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants may be prescribed to help manage symptoms.

5. Orthotics: Orthotics such as ankle-foot orthoses (AFOs) can help improve balance and reduce pain.

6. Nutritional supplements: Nutritional supplements such as vitamin B12 and omega-3 fatty acids may be recommended to help improve nerve function.

What are the risk factors for MME-related autosomal dominant Charcot Marie Tooth disease type 2?

1. Family history of MME-related autosomal dominant Charcot Marie Tooth disease type 2
2. Age of onset of symptoms
3. Gender (male more likely to be affected)
4. Genetic mutations in the MME gene
5. Exposure to certain environmental toxins
6. Smoking
7. Obesity
8. Diabetes
9. Vitamin B12 deficiency
10. Alcohol consumption

Is there a cure/medications for MME-related autosomal dominant Charcot Marie Tooth disease type 2?

Yes, there are medications and treatments available for MME-related autosomal dominant Charcot Marie Tooth disease type 2. Treatment options include physical therapy, occupational therapy, orthopedic braces, and medications to reduce pain and improve muscle strength. In some cases, surgery may be recommended to correct foot deformities or to improve mobility. Additionally, there are several medications that have been approved by the FDA to treat MME-related Charcot Marie Tooth disease type 2, including vamorolone, deflazacort, and prednisone.