Why in NEWS
In a landmark medical move, India has initiated presymptomatic treatment for a newborn diagnosed with Spinal Muscular Atrophy (SMA) using Risdiplam, a rare and expensive disease-modifying drug. This is the first time such early intervention is being used to prevent motor neuron damage in SMA before symptoms appear.
Key Terms / Concepts
| Term | Explanation |
|---|---|
| Spinal Muscular Atrophy (SMA) | A rare genetic disorder caused by a mutation in the SMN1 gene, leading to loss of motor neurons and muscle weakness. |
| SMN1 Gene | A gene responsible for producing Survival Motor Neuron (SMN) protein essential for motor neuron health. |
| Risdiplam | An oral drug that helps increase SMN protein levels and delay progression of SMA. |
| Presymptomatic Treatment | Administering therapy before the onset of disease symptoms, based on early genetic diagnosis. |
About Spinal Muscular Atrophy (SMA)
| Aspect | Details |
|---|---|
| Cause | Mutation in SMN1 gene leads to low SMN protein levels. |
| Transmission | Autosomal recessive; both parents must carry and pass on the mutated gene. |
| Incidence | Affects approximately 1 in 10,000 live births. |
| Target | Voluntary muscles (e.g., limbs, breathing muscles); involuntary muscles remain unaffected. |
| Symptoms | Muscle weakness (shoulders, thighs), poor motor control, difficulty in breathing and swallowing. |
Why is This Development Significant?
| Impact Area | Significance |
|---|---|
| Early Detection | Presymptomatic therapy can delay or prevent the onset of irreversible nerve damage. |
| Improved Outcomes | Early use of Risdiplam increases life expectancy and quality of life in SMA patients. |
| Policy Push | Reinforces need for newborn screening programs for rare genetic disorders in India. |
| Access to Rare Drugs | Sets precedent for wider access and approval of high-cost orphan drugs in India. |
In a nutshell
Mnemonic: “SMA = Silent Muscle Assassin”
Early diagnosis and intervention with drugs like Risdiplam can help silence the assassin before symptoms strike, redefining care for rare genetic diseases in India.
Prelims Practice Questions
- What causes Spinal Muscular Atrophy (SMA)?
A. Mutation in the BRCA1 gene
B. Mutation in the SMN1 gene
C. Excess production of SMN protein
D. Bacterial infection of spinal fluid - Which of the following statements is true about SMA?
A. It primarily affects involuntary muscles like the heart.
B. It is caused by a dominant gene mutation.
C. Risdiplam is used to increase SMN protein levels.
D. Only females are affected by SMA. - What does presymptomatic treatment imply?
A. Treatment after full symptoms develop
B. A vaccine to prevent gene mutation
C. Therapy initiated before disease symptoms begin
D. Home-based physiotherapy
Prelims Answers with Explanations
| Q.No | Answer | Explanation |
|---|---|---|
| 1 | B | SMA is caused by a mutation in the SMN1 gene. |
| 2 | C | Risdiplam boosts SMN protein levels; involuntary muscles are not mainly affected. |
| 3 | C | Presymptomatic treatment is given before symptoms appear, based on genetic risk. |
