Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (CMT2G) is a rare inherited neurological disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands. It is caused by mutations in the GARS gene, which is responsible for producing the protein glycyl-tRNA synthetase. People with CMT2G have abnormally large axons, which are the long, thin fibers that carry electrical signals between nerve cells. This leads to a decrease in the speed of nerve conduction, resulting in muscle weakness and wasting.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons include:

-Muscle Weakness and Atrophy in the lower legs and feet
-High arches of the feet
-Foot drop
-Loss of sensation in the lower legs and feet
-Gait abnormalities
-Decreased reflexes
-Pain in the lower legs and feet
-Giant axons on nerve conduction studies

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons is caused by mutations in the GJB1 gene, which encodes the protein connexin 32. Mutations in this gene can lead to a decrease in the amount of connexin 32 protein, which is necessary for the proper functioning of the peripheral nervous system. This can lead to the development of the symptoms associated with this type of Charcot-Marie-Tooth disease.

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

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

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

4. Surgery: Surgery may be recommended in some cases to help improve mobility and reduce pain.

5. Gene therapy: Gene therapy is a new and experimental treatment that may be used to treat some forms of Charcot-Marie-Tooth disease.

1. Family history of the disorder
2. Age of onset (usually between 10 and 30 years old)
3. Gender (more common in males)
4. Genetic mutations in the PMP22, MPZ, or GJB1 genes
5. Exposure to certain toxins or medications
6. Smoking
7. Obesity
8. Diabetes

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons. However, there are medications and treatments available to help manage the symptoms. These include medications to reduce pain, physical therapy to help maintain muscle strength and coordination, orthopedic devices to help with mobility, and surgery to correct foot deformities.