Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation is a rare inherited neurological disorder caused by a mutation in the DGAT2 gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. Other symptoms may include foot deformities, such as hammertoes, and difficulty walking. There is currently no cure for this disorder, but physical therapy and orthopedic devices can help manage symptoms.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation can vary from person to person, but generally include:

- Muscle Weakness and wasting in the lower legs and feet
- High arches of the feet
- Loss of sensation in the feet and lower legs
- Foot deformities, such as hammertoes or high arches
- Difficulty walking or running
- Loss of reflexes in the lower legs
- Difficulty with fine motor skills, such as buttoning a shirt or writing
- Pain in the feet, legs, and hands
- Curvature of the spine (scoliosis)
- Difficulty with balance and coordination

Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation is caused by a mutation in the DGAT2 gene. This gene provides instructions for making an enzyme called diacylglycerol O-acyltransferase 2. This enzyme is involved in the production of a type of fat molecule called diacylglycerol, which is important for the normal functioning of nerve cells. Mutations in the DGAT2 gene lead to the production of an abnormal enzyme that is not able to produce diacylglycerol properly. This leads to a disruption in the normal functioning of nerve cells, resulting in the signs and symptoms of Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation.

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

2. Assistive devices: Assistive devices such as braces, canes, and walkers can help improve mobility and reduce pain.

3. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants can help reduce pain and improve muscle strength.

4. Surgery: Surgery may be recommended to correct foot deformities or to release tight tendons.

5. Gene therapy: Gene therapy is a promising new treatment for Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation. It involves introducing a healthy copy of the DGAT2 gene into the body to replace the mutated gene.

1. Family history of Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
2. Age: the disease usually begins in adolescence or early adulthood
3. Gender: males are more likely to be affected than females
4. Ethnicity: the mutation is more common in people of European descent
5. Genetic predisposition: people with a family history of the disease are more likely to develop it

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation. 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.