About Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
What is Autosomal dominant intermediate Charcot-Marie-Tooth disease type B?
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (AD-CMTB) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting in the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AD-CMTB is caused by mutations in the GDAP1 gene, which is responsible for producing a protein that helps maintain the structure and function of the peripheral nerves.
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B?
The symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (CMTB) 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 B?
The cause of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is unknown. It is believed to be caused by mutations in the PMP22 gene, which is responsible for the production of a protein that helps to form the myelin sheath around nerve cells. Mutations in this gene can lead to a decrease in the amount of myelin produced, resulting in the symptoms of the disease.
What are the treatments for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B?
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 B. 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 B?
1. Family history of the disorder
2. Mutations in the SH3TC2 gene
3. Mutations in the EGR2 gene
4. Mutations in the LITAF gene
5. Mutations in the GDAP1 gene
6. Mutations in the MTMR2 gene
7. Mutations in the RAB7 gene
8. Mutations in the HSPB1 gene
9. Mutations in the HSPB8 gene
10. Mutations in the FIG4 gene
Is there a cure/medications for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B?
At this time, there is no cure for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B. 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.