Spinal Muscular Atrophy (SMA)

Context:

Health activists and patients with spinal muscular atrophy (SMA) have refuted the Union government’s affidavit in the Kerala High Court and demanded urgent action to reduce the cost of medicines required for this genetic disorder.

Spinal Muscular Atrophy (SMA)

SMA is a rare genetic disease causing weakness and wasting of muscles. The motor neurons that are found in the spinal cord and brainstem controlling the voluntary movements of the body get affected by this disorder.

• Symptoms
  • Weakness of muscles of shoulders, hips, back, chest, and upper legs.
  • Respiratory distress, feeding difficulty, and dysphagia.
  • Poorly sitting or rolling over.
  • Scoliosis: an abnormal curve of the spine.
  • Joint deformity and stiffness.
  • Fragile bones.
• Types of SMA
  • Type 1
    • The most common and the worst type of SMA, which typically start at birth or in early infancy.
  • Type 2
    • Typically appears when the patient is between 6–18 months old, this can lead to progressive muscle weakness, scoliosis, and restrictive lung disease.
  • Type 3
    • Kugelberg-Welander syndrome or juvenile SMA, it could start up to 18 months of age or even in late adolescence.
  • Type 4
    • The adult form of SMA, which typically starts after age 35 and gradually deteriorates over time.
• Treatment
  • Close monitoring of respiratory function, including secretion clearance and possibly assisted ventilation.
  • Bracing for scoliosis until surgery is feasible.
• Inheritance
  • SMA is inherited from parents through defective genes. If both parents pass the defective gene, the child is likely to have SMA. If only one parent passes the gene, the child is a carrier.

Spinal Muscular Atrophy Cases Related Issues in India

According to available data, Spinal Muscular Atrophy (SMA) affects approximately one in every 7,744 live births in India, meaning around 3,200 babies are born with SMA each year in the country, this makes SMA a relatively rare but significantly impactful condition in India. 

Major issues

The main problem with SMA drugs in India is that they are too expensive, and most patients cannot afford the treatment, such as Zolgensma, which costs as much as 17 crores rupees for a single dose.

• High cost of treatment
  • The significant challenge is the prohibitively high cost of drugs like Zolgensma for SMA, which is ranked as one of the most expensive medicines globally.
• Restricted access
  • Unless people afford the costs, many families across India cannot access SMA treatment and hardly have any alternatives.
• Reliance on crowdfunding
  • In an effort to be able to obtain treatment, families rely heavily on fundraising campaigns to raise a large amount of money to access treatment.
• Government intervention needed
  • There are calls for government intervention that would make the SMA drugs much cheaper, by either price control or subsidy.