Proximal spinal muscular atrophy type 2 (SMA2) is a rare, inherited neuromuscular disorder caused by a mutation in the SMN1 gene. It is characterized by progressive muscle weakness and wasting, primarily affecting the proximal muscles of the arms and legs. Symptoms usually begin in early childhood and can range from mild to severe. Treatment typically includes physical and occupational therapy, medications, and assistive devices.

The symptoms of Proximal spinal muscular Atrophy type 2 (SMA2) vary from person to person, but may include:

-Weakness in the arms and legs
-Difficulty walking, running, or climbing stairs
-Muscle wasting
-Loss of muscle tone
-Difficulty breathing
-Difficulty swallowing
-Loss of reflexes
-Loss of head control
-Scoliosis
-Joint contractures
-Fatigue
-Pain

Proximal spinal muscular atrophy type 2 (SMA2) is caused by a mutation in the SMN1 gene. This gene is responsible for producing a protein called survival motor neuron (SMN) which is essential for the maintenance and function of the motor neurons in the spinal cord. Without this protein, the motor neurons degenerate and die, leading to the symptoms of SMA2.

1. Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and bathing.

3. Assistive devices: Assistive devices, such as wheelchairs, walkers, and braces, can help with mobility.

4. Medications: Medications, such as baclofen and diazepam, can help reduce spasticity and improve muscle strength.

5. Surgery: Surgery may be recommended to correct spinal deformities or to improve mobility.

6. Nutritional support: Nutritional support, such as a high-calorie diet, can help maintain muscle strength.

7. Gene therapy: Gene therapy is a promising treatment for proximal spinal muscular atrophy

1. Genetic mutation: Proximal spinal muscular atrophy type 2 is caused by a mutation in the SMN1 gene.

2. Family history: Having a family history of the disorder increases the risk of developing proximal spinal muscular atrophy type 2.

3. Age: Proximal spinal muscular atrophy type 2 is more common in adults over the age of 40.

4. Gender: Proximal spinal muscular atrophy type 2 is more common in males than females.

Yes, there is a medication called Spinraza (nusinersen) that is approved to treat Proximal spinal muscular atrophy type 2. It is an injection that is given directly into the spinal fluid. It works by increasing the production of a protein called SMN, which is deficient in people with this condition. Other treatments may include physical therapy, occupational therapy, and speech therapy.