Spinal Muscular Atrophy

About Spinal Muscular Atrophy:

• Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system and voluntary muscle movement (skeletal muscle).
• It involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.
• Types of SMA: 

• There are five subtypes of SMA- type 0, 1, 2, 3, 4. Healthcare providers classify them based on the age of onset, as well as the severity and life expectancy.

• Symptoms: 

• Spinal muscle atrophy symptoms vary and may be mild or disabling, but involve a weakness of the muscles that control movement. Involuntary muscles are not affected, such as those in the heart, blood vessels and digestive tract.
• The weakness in SMA tends to be more severe in the muscles that are close to the center of your body than in the muscles farther away from your body’s center.

• Treatment: There isn’t a cure for SMA. Treatment for SMA mainly seeks to manage symptoms and prevent complications. Symptom management therapies may include:

• Physical therapy, which can help improve posture, prevent joint immobility and slow muscle weakness.
• Occupational therapy, which can improve your ability to perform daily tasks.
• Assistive devices, like orthopaedic braces, crutches, walkers and wheelchairs.
• Therapy for speech and swallowing difficulties.
• A feeding tube if swallowing is too difficult and/or dangerous.
• Assisted ventilation for breathing issues.

• Medications for SMA: Between 2016 and 2020, the U.S. Food and Drug Administration (FDA) approved treatments that can significantly improve the course of SMA. They include:

• Disease-modifying therapy
• Gene replacement therapy