Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a rare inherited neurological disorder that affects the peripheral nerves. 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. CMT2A1 is caused by mutations in the gene encoding the protein mitofusin 2 (MFN2).

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) include:

- Muscle Weakness and Atrophy in the lower legs and feet
- High arches of the feet
- Hammertoes
- Loss of sensation in the feet and lower legs
- Difficulty walking
- Loss of balance
- Difficulty climbing stairs
- Difficulty running or jumping
- Pain in the feet and lower legs
- Curvature of the spine
- Abnormal gait

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 is caused by mutations in the mitofusin 2 (MFN2) gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of the connections between nerve cells (neurons). Mutations in the MFN2 gene lead to the production of an abnormal version of the mitofusin 2 protein, which disrupts the normal function of neurons and causes the signs and symptoms of Charcot-Marie-Tooth disease type 2A1.

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 new treatment option that is being studied for Charcot-Marie-Tooth disease type 2A1. It involves introducing a healthy gene into the body to replace the mutated gene that causes the disease.

1. Family history: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is an inherited disorder, so having a family history of the condition increases the risk of developing it.

2. Age: CMT2A1 usually begins in childhood or adolescence, but can also occur in adulthood.

3. Gender: CMT2A1 is more common in males than females.

4. Ethnicity: CMT2A1 is more common in people of European descent.

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2A1. However, there are medications and treatments available to help manage the symptoms of the disease. 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.