Daily News Analysis ‘Spinal Muscular Atrophy (SMA) ‘: 8 February

Spinal Muscular Atrophy (SMA):

• Genetic Disorder: SMA is a rare genetic neuromuscular disease that causes muscle weakness and atrophy.
• Cause: It is caused by mutations in the SMN1 gene, leading to a deficiency of the Survival Motor Neuron (SMN) protein, essential for nerve function.
• Effect on Muscles: Affects the motor neurons in the spinal cord, leading to progressive muscle weakness, loss of movement, and difficulty breathing or swallowing.
• Symptoms: Muscle weakness, poor muscle tone, difficulty sitting/walking, breathing problems, and scoliosis (curved spine).
• Diagnosis: Confirmed through genetic testing, physical exams, and muscle function assessments.
• Treatment & Management:
  • No complete cure, but FDA-approved treatments like Spinraza, Zolgensma, and Risdiplam help slow disease progression.
  • Physical therapy, respiratory support, and assistive devices improve quality of life.
• Inheritance Pattern:
  • Autosomal recessive disorder: Both parents must be carriers of the faulty SMN1 gene for a child to inherit SMA.
• Prevalence:
  • Affects 1 in 10,000 live births worldwide. Carrier frequency is about 1 in 50 people.
  • As per estimated statistics, almost 8,000 to 25,000 people get affected by SMA every year in India

Why in News?

• A member of Rajya Sabha  sought urgent intervention of the Union Health Ministry to allow production of generic medicines for Spinal Muscular Atrophy (SMA).