Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare inherited neurological disorder caused by a mutation in the KIF5A 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 high arches, and difficulty walking.

The symptoms of Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A 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
• Hammertoes
• Loss of sensation in the feet and lower legs
• Loss of reflexes in the lower legs
• Difficulty walking and running
• Difficulty climbing stairs
• Difficulty standing on the toes
• Difficulty with fine motor skills
• Loss of balance and coordination
• Pain in the feet and lower legs

Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is caused by a mutation in the KIF5A gene. This gene provides instructions for making a protein that is involved in the movement of certain molecules within cells. The mutation leads to the production of an abnormal version of the protein, which disrupts the normal functioning of nerve cells. This disruption can cause the signs and symptoms of Charcot-Marie-Tooth disease type 2.

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

4. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants may be prescribed to help manage symptoms.

5. Gene therapy: Gene therapy is a promising treatment option for Charcot-Marie-Tooth disease type 2 due to KIF5A mutation. It involves introducing a healthy copy of the KIF5A gene into the body to replace the mutated gene.

1. Family history: Individuals with a family history of Charcot-Marie-Tooth disease type 2 due to KIF5A mutation are at an increased risk of developing the condition.

2. Age: The risk of developing Charcot-Marie-Tooth disease type 2 due to KIF5A mutation increases with age.

3. Gender: Males are more likely to develop Charcot-Marie-Tooth disease type 2 due to KIF5A mutation than females.

4. Ethnicity: Individuals of European descent are more likely to develop Charcot-Marie-Tooth disease type 2 due to KIF5A mutation than individuals of other ethnicities.

At this time, there is no cure for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation. 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 such as braces and splints to help with mobility, and surgery to correct foot deformities.