Charcot-Marie-Tooth disease type 4E (CMT4E) 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. CMT4E 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 CMT4E usually begin in childhood and can include difficulty walking, frequent falls, and difficulty with fine motor skills. Treatment for CMT4E is supportive and may include physical therapy, occupational therapy, and orthopedic devices.

The symptoms of Charcot-Marie-Tooth disease type 4E (CMT4E) 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

- Difficulty walking

- Loss of balance

- Difficulty climbing stairs

- Pain in the lower legs and feet

- Loss of reflexes in the lower legs and feet

- Abnormal gait

- Difficulty running or jumping

- Difficulty with fine motor skills, such as buttoning a shirt or writing

- Curvature of the spine (scoliosis)

- Foot deformities, such as clubfoot or pes cavus (high arches)

Charcot-Marie-Tooth disease type 4E is caused by mutations in the SH3TC2 gene. This gene provides instructions for making a protein that is involved in the formation 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 of the myelin sheath and causes the signs and symptoms of Charcot-Marie-Tooth disease type 4E.

The treatments for Charcot-Marie-Tooth disease type 4E are focused on managing the symptoms and slowing the 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 4E include:

1. Family history: Individuals with a family history of CMT4E are at an increased risk of developing the condition.

2. Age: CMT4E is more common in adults than in children.

3. Gender: CMT4E is more common in males than in females.

4. Ethnicity: CMT4E is more common in individuals of Ashkenazi Jewish descent.

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