Context
Patients with Spinal Muscular Atrophy (SMA) and parents of affected children have urged the Prime Minister to ensure nationwide access to generic Risdiplam under the National Policy for Rare Diseases, seeking more affordable and accessible treatment.
About Spinal Muscular Atrophy (SMA)
- Spinal Muscular Atrophy (SMA) is a genetic condition caused by a defect in the SMN1 gene, resulting in a shortage of a protein essential for the survival of motor neurons.
- The disease leads to the gradual breakdown of motor neurons, which disrupts communication between the brain and muscles and causes progressive muscle weakness.
- It affects about 1 in 10,000 newborns and is a significant genetic cause of mortality among infants and young children.
- SMA develops only when a child inherits the mutated SMN1 gene from both parents, who usually do not show any symptoms themselves.
- In general, genetic disorders arise due to abnormalities or mutations in genes or chromosomes, either inherited or occurring spontaneously.
- The condition mainly weakens voluntary muscles such as those in the shoulders, hips, and thighs, while involuntary muscles like the heart and digestive system remain largely unaffected.
- Common signs include muscle weakness, reduced movement, and difficulties with breathing and swallowing as the condition progresses.
