Spinal Muscular Atrophy

Spinal Muscular Atrophy Latest News

Recently, persons living with Spinal Muscular Atrophy (SMA), and parents have written to the Prime Minister of India seeking urgent intervention to ensure nationwide access to generic Risdiplam under the National Policy for Rare Diseases (NPRD). 

About Spinal Muscular Atrophy

• It is a rare and progressive neuromuscular disorder that leads to muscle weakness and can cause life-threatening complications. 
• It is a debilitating genetic condition which affects motor neurons that control movement, and leads to progressive muscle weakening.
• Cause: Most forms of SMA are caused by mutations of the survival motor neuron 1 gene (SMN1) on the fifth chromosome, resulting in insufficient expression levels of the SMN protein.
• 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.

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Symptoms of Spinal Muscular Atrophy

• Its symptoms vary and may be mild or disabling, but involve a weakness of the muscles that control movement.
• 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: Unfortunately, there isn’t a cure for SMA. Treatment for SMA mainly seeks to manage symptoms and prevent complications.

Source: TH