Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome (AD-MNM) is a rare genetic disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower limbs, as well as sensory disturbances in the feet and hands. It is caused by mutations in the DNM2 gene, which is responsible for the production of a protein involved in the maintenance of the structure and function of nerve cells. Symptoms typically begin in adulthood and worsen over time, leading to difficulty walking and performing daily activities. Treatment is supportive and may include physical therapy, occupational therapy, and medications to manage symptoms.

The symptoms of Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome can vary from person to person, but may include:

-Muscle weakness, especially in the lower legs
-Difficulty walking
-Muscle cramps
-Muscle wasting
-Loss of reflexes
-Loss of sensation in the feet and hands
-Difficulty with fine motor skills
-Difficulty with balance and coordination
-Fatigue
-Pain in the muscles and joints
-Difficulty swallowing
-Difficulty speaking
-Difficulty breathing

Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome is caused by mutations in the GNE gene. This gene provides instructions for making an enzyme called glucosamine (UDP-N-acetylglucosamine) 2-epimerase/N-acetylmannosamine kinase. This enzyme is involved in the production of sialic acid, which is a sugar molecule found on the surface of cells. Mutations in the GNE gene lead to a decrease in the activity of the enzyme, which disrupts the production of sialic acid and causes the signs and symptoms of this disorder.

1. Physical therapy: Physical therapy can help to improve muscle strength, flexibility, and coordination.

2. Occupational therapy: Occupational therapy can help to improve daily activities and independence.

3. Medications: Medications such as anticonvulsants, muscle relaxants, and immunosuppressants may be prescribed to help manage symptoms.

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

5. Assistive devices: Assistive devices such as braces, canes, and wheelchairs can help to improve mobility.

6. Nutritional support: Nutritional support may be recommended to help maintain muscle strength and function.

1. Family history: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

2. Age: The disorder typically begins in adulthood, usually between the ages of 30 and 50.

3. Gender: Men are more likely to be affected than women.

4. Ethnicity: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome is more common in people of European descent.

At this time, there is no known cure for Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to reduce muscle spasms, improve muscle strength, and reduce pain. Physical therapy and occupational therapy can also help improve muscle strength and function.