SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4) is a rare inherited neurological disorder caused by mutations in the SURF1 gene. It is characterized by progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. Other symptoms may include foot deformities, such as hammertoes, and difficulty walking. CMT4 is inherited in an autosomal recessive manner.

The symptoms of SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4) include:

-Muscle Weakness and wasting in the lower legs and feet
-High arches of the feet
-Foot drop
-Loss of sensation in the feet and lower legs
-Loss of reflexes in the lower legs
-Gait abnormalities
-Difficulty with balance
-Pain in the feet and lower legs
-Numbness in the hands and arms
-Muscle cramps
-Difficulty with fine motor skills, such as buttoning a shirt or writing
-Difficulty with coordination

SURF1-related Charcot-Marie-Tooth disease type 4 is caused by mutations in the SURF1 gene. This gene provides instructions for making a protein called SURF1, which is involved in the production of a molecule called cytochrome c oxidase (COX). Mutations in the SURF1 gene lead to a decrease in the amount of functional COX, which is essential for the normal functioning of the mitochondria, the energy-producing structures in cells. This decrease in COX activity leads to the signs and symptoms of SURF1-related Charcot-Marie-Tooth disease type 4.

1. Physical therapy: Physical therapy can help improve muscle strength, coordination, and balance. It can also help reduce pain and improve mobility.

2. Occupational therapy: Occupational therapy can help improve daily living skills, such as dressing, grooming, and eating.

3. Assistive devices: Assistive devices, such as braces, canes, and walkers, can help improve mobility and reduce the risk of falls.

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

5. Surgery: Surgery may be recommended to correct foot deformities or to release tight muscles.

6. Gene therapy: Gene therapy is a new treatment option that is being studied for SURF1-related Charcot-Marie-Tooth disease type 4.

1. Family history of SURF1-related Charcot-Marie-Tooth disease type 4
2. Mutations in the SURF1 gene
3. Age of onset (usually between 10 and 20 years old)
4. Gender (more common in males)
5. Ethnicity (more common in people of European descent)
6. Exposure to certain environmental toxins or radiation

At this time, there is no cure for SURF1-related Charcot-Marie-Tooth disease type 4. 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. Additionally, surgery may be recommended in some cases to help improve mobility.