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About The Spinal Muscular Atrophy

Context:

Recently, A 16-month-old child with spinal muscular atrophy (SMA) was chosen for gene therapy and was administered the drug at a private hospital.

Relevance:

GS II: Health

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disorder that primarily affects the motor neurons—nerve cells in the spinal cord—resulting in muscle wasting and weakness. Here’s a closer look at this debilitating condition.

Overview of SMA
  • Nature of the Disease: SMA targets the central and peripheral nervous systems and impacts voluntary muscle movement across the body.
  • Motor Neuron Degeneration: The disease involves the progressive loss of motor neurons, classifying it as a motor neuron disease. This degeneration leads to muscle weakness and atrophy, particularly in the muscles closer to the body’s center.
Types of SMA

SMA is categorized into several subtypes based on the age of onset and severity:

  • Type 0: Evident at birth, extremely severe.
  • Type 1: Appears in infants, highly severe.
  • Type 2: Develops in toddlers, moderate severity.
  • Type 3: Begins in childhood or adolescence, milder form.
  • Type 4: Manifests in adulthood, least severe.
Symptoms of SMA
  • Muscle Weakness: The primary symptom is muscle weakness that worsens over time, particularly affecting the muscles near the trunk.
  • Mobility Issues: As the condition progresses, symptoms can range from mild to disabling, leading to challenges in daily movement but not typically affecting involuntary muscles such as those in the heart or digestive tract.
Treatment Approaches

While there is no cure for SMA, treatments focus on managing symptoms and minimizing complications:

  • Physical Therapy: Aims to improve posture, prevent joint problems, and maintain mobility.
  • Occupational Therapy: Helps individuals manage daily activities and maintain independence.
  • Assistive Devices: Includes braces, walkers, or wheelchairs to aid movement.
  • Speech and Swallowing Therapy: Addresses difficulties in speech and eating.
  • Nutritional Support: Includes feeding tubes for those who have difficulty swallowing.
  • Respiratory Care: Assisted ventilation may be necessary for those with advanced respiratory weakness.
Advances in Medications

Recent breakthroughs in treatment have provided new hope for those affected by SMA:

  • Disease-Modifying Therapies: These include drugs approved by the FDA that can alter the progression of the disease.
  • Gene Replacement Therapy: A revolutionary approach that introduces a new gene to make up for the defective one causing SMA.

-Source: The Hindu


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