Spinal Muscular Atrophy

25-02-2025

04:36 AM

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Recently, clinical neuroscientists said that they have managed to treat a deadly motor neuron disease spinal muscular atrophy (SMA) in a baby who was still in the womb.

About Spinal Muscular Atrophy

  • It is a debilitating genetic condition which affects motor neurons that control movement, and leads to progressive muscle weakening.
  • 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 of Spinal Muscular Atrophy

  • Its 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.

Causes of Spinal Muscular Atrophy

  • The condition is caused by mutations in the survival motor neuron gene (SMN1) which causes a deficiency of a protein crucial for the survival of motor neurons in the spinal cord.
  • Prevalence: About one in every 10,000 births have some form of the condition making it a leading genetic cause of death in infants and children.

Symptom Management Therapies of Spinal Muscular Atrophy May Include

  • Unfortunately, there isn’t a cure for SMA. Treatment for SMA mainly seeks to manage symptoms and prevent complications.
  • Physical therapy, which can help improve posture, prevent joint immobility and slow muscle weakness.
  • 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 and Gene replacement therapy.

Spinal Muscular Atrophy FAQs

Q1. What is spinal muscular atrophy?

Ans. Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement.

Q2. What are the early signs of spinal muscular atrophy?

Ans. Early signs are limited movement, can't sit without support, and have trouble breathing, feeding, and swallowing.

Q3. What is the difference between muscular dystrophy and spinal muscular atrophy?

Ans. In SMA, the motor neurons that serve the muscles that are located in the spinal cord are destroyed. In MD, the damage is often occurring to the muscle fibers themselves.

Source: IE