Charcot-Marie-Tooth disease type 4H (CMT4H) 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. CMT4H is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure of the peripheral nerves. Symptoms of CMT4H usually begin in childhood or adolescence and can include difficulty walking, frequent falls, and muscle cramps. Treatment for CMT4H is supportive and may include physical therapy, occupational therapy, and orthopedic devices.

The symptoms of Charcot-Marie-Tooth disease type 4H vary from person to person, but may include:

- Muscle Weakness and wasting in the lower legs and feet

- Loss of sensation in the lower legs and feet

- High arches in the feet

- Hammertoes

- Difficulty walking

- Loss of balance

- Difficulty climbing stairs

- Drooping of the foot

- Loss of reflexes in the lower legs and feet

- Pain in the lower legs and feet

- Curvature of the spine

- Abnormal gait

Charcot-Marie-Tooth disease type 4H is caused by mutations in the SH3TC2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of the peripheral nervous system. Mutations in this gene lead to the production of an abnormal version of the protein, which disrupts the normal functioning of the peripheral nervous system.

The treatments for Charcot-Marie-Tooth disease type 4H 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, occupational therapy, orthopedic braces, medications to reduce pain and muscle spasms, and surgery to correct deformities. In some cases, stem cell therapy may be used to help regenerate nerve cells.

1. Family history of Charcot-Marie-Tooth disease
2. Mutations in the SH3TC2 gene
3. Age (onset typically occurs in adolescence or early adulthood)
4. Gender (males are more likely to be affected)
5. Ethnicity (Caucasians are more likely to be affected)

At this time, there is no cure for Charcot-Marie-Tooth disease type 4H. However, there are medications and treatments available to help manage the symptoms of the disease. These include physical therapy, occupational therapy, braces, splints, and medications to help reduce pain and improve muscle strength.