Proximal spinal muscular atrophy type 3 (SMA3) 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 therapy, occupational therapy, and medications to help manage symptoms.

The symptoms of Proximal spinal muscular Atrophy type 3 (SMA3) 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 bladder and bowel control
-Scoliosis
-Joint contractures
-Fatigue
-Pain

Proximal spinal muscular atrophy type 3 (SMA3) 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 SMA3.

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 mass and strength.

7. Gene therapy: Gene therapy is a promising treatment for SMA type 3

1. Genetic mutation: Proximal spinal muscular atrophy type 3 is caused by a mutation in the SMN1 gene.

2. Age: Proximal spinal muscular atrophy type 3 is more common in adults than in children.

3. Gender: Proximal spinal muscular atrophy type 3 is more common in males than in females.

4. Family history: Proximal spinal muscular atrophy type 3 is more likely to occur in individuals with a family history of the condition.

5. Ethnicity: Proximal spinal muscular atrophy type 3 is more common in individuals of Ashkenazi Jewish descent.

There is no cure for proximal spinal muscular atrophy type 3 (SMA3). However, there are medications available to help manage the symptoms. These medications include drugs that help improve muscle strength, such as Spinraza (nusinersen) and Evrysdi (risdiplam). Other medications, such as physical therapy, occupational therapy, and speech therapy, can also help improve muscle strength and function.