Charcot-Marie-Tooth disease type 2H (CMT2H) is a rare, inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting, as well as sensory loss in the feet and hands. CMT2H is caused by mutations in the HSPB8 gene, which is responsible for producing a protein that helps maintain the structure and function of peripheral nerves.

The symptoms of Charcot-Marie-Tooth disease type 2H vary from person to person, but generally 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 and coordination
• Pain in the feet and lower legs
• Curvature of the spine
• Abnormal gait
• Difficulty climbing stairs
• Difficulty running or jumping

Charcot-Marie-Tooth disease type 2H is caused by mutations in the HSPB8 gene. This gene provides instructions for making a protein called heat shock protein beta-8, which is involved in the formation and maintenance of the myelin sheath. The myelin sheath is a fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve signals. Mutations in the HSPB8 gene lead to the production of an abnormally short or nonfunctional version of the heat shock protein beta-8 protein, which disrupts the formation and maintenance of the myelin sheath. This disruption impairs the transmission of nerve signals, leading to the signs and symptoms of Charcot-Marie-Tooth disease type 2H.

The treatments for Charcot-Marie-Tooth disease type 2H vary depending on the severity of the condition. Generally, treatments focus on managing symptoms and preventing further progression of the disease. These treatments may include:

• Physical therapy: Physical therapy can help improve muscle strength, flexibility, and coordination.

• Orthotics: Orthotics, such as braces, splints, and shoe inserts, can help support weakened muscles and joints.

• Medications: Certain medications, such as pain relievers and muscle relaxants, can help reduce pain and improve muscle function.

• Surgery: Surgery may be recommended in some cases to correct deformities or to release pressure on nerves.

• Assistive devices: Assistive devices, such as canes, walkers, and wheelchairs, can help improve mobility.

1. Family history of Charcot-Marie-Tooth disease type 2H
2. Mutations in the GARS gene
3. Mutations in the NEFL gene
4. Mutations in the SH3TC2 gene
5. Mutations in the EGR2 gene
6. Mutations in the LITAF gene
7. Mutations in the FIG4 gene
8. Mutations in the TRPV4 gene
9. Mutations in the DYNC1H1 gene
10. Mutations in the HSPB1 gene

At this time, there is no cure for Charcot-Marie-Tooth disease type 2H. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, braces, splints, and medications to help reduce pain and improve muscle strength.