Charcot-Marie-Tooth disease type 2S (CMT2S) 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. CMT2S is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. This protein is essential for the proper functioning of the peripheral nerves.

The symptoms of Charcot-Marie-Tooth disease type 2S vary from person to person, but generally include:

• Muscle Weakness and wasting in the lower legs and feet

• High arches of the feet
• Hammertoes
• Loss of sensation in the feet and lower legs
• Difficulty walking and running
• Loss of balance and coordination
• Pain in the feet and lower legs
• Curvature of the spine
• Abnormal gait
• Difficulty climbing stairs
• Difficulty with fine motor skills

Charcot-Marie-Tooth disease type 2S 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 communication between neurons and causes the signs and symptoms of Charcot-Marie-Tooth disease type 2S.

The treatments for Charcot-Marie-Tooth disease type 2S vary depending on the severity of the condition. Generally, treatments focus on managing symptoms and preventing further progression of the disease. These treatments may include:

• Physical therapy: This can help improve muscle strength, flexibility, and coordination.

• Orthopedic devices: These can help support weakened muscles and joints.

• Medications: These can help reduce pain and inflammation.

• Surgery: This can help correct deformities and improve mobility.

• Assistive devices: These can help with activities of daily living.

• Genetic counseling: This can help individuals and families understand the condition and its implications.

The risk factors for Charcot-Marie-Tooth disease type 2S include:

1. Family history: Having a family member with CMT2S increases the risk of developing the condition.

2. Age: CMT2S is more common in adults than in children.

3. Gender: CMT2S is more common in males than in females.

4. Ethnicity: CMT2S is more common in people of European descent.

At this time, there is no cure for Charcot-Marie-Tooth disease type 2S. 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 such as braces and splints to help with mobility, and surgery to correct foot deformities.