Charcot-Marie-Tooth disease type 4C (CMT4C) 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. CMT4C 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 CMT4C usually begin in childhood and can include difficulty walking, frequent falls, and difficulty with fine motor skills. Treatment for CMT4C is supportive and may include physical therapy, occupational therapy, and orthopedic devices.

The symptoms of Charcot-Marie-Tooth disease type 4C 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

- Hammertoes

- Foot drop

- Difficulty walking

- Loss of balance

- Loss of reflexes

- Pain in the lower legs and feet

- Abnormal gait

- Difficulty climbing stairs

- Difficulty standing on the toes

- Difficulty running or jumping

Charcot-Marie-Tooth disease type 4C 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 a protective covering that surrounds nerve cells. Mutations in the SH3TC2 gene lead to the production of an abnormal protein, which disrupts the formation and maintenance of the myelin sheath. This disruption causes the nerve cells to become damaged, leading to the signs and symptoms of Charcot-Marie-Tooth disease type 4C.

The treatments for Charcot-Marie-Tooth disease type 4C 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.

The risk factors for Charcot-Marie-Tooth disease type 4C include:

1. Family history: Having a family member with CMT4C increases the risk of developing the condition.

2. Age: CMT4C is more common in adults than in children.

3. Gender: CMT4C is more common in males than in females.

4. Ethnicity: CMT4C is more common in people of European descent.

At this time, there is no cure for Charcot-Marie-Tooth disease type 4C. 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.