SMA is a rare genetic disorder causing progressive muscle weakness due to the loss of motor neurons.
With advancements such as gene therapy and SMN-boosting drugs, treatment outcomes are improving, but access to these therapies remains limited.

SMA Diagnostics 

1. Genetic Testing (Primary Diagnostic Tool): Confirms SMA by identifying deletions or mutations in the SMN1 gene. It is the most definitive and widely used method.

2. Creatine Kinase (CK) Blood Test: Measures muscle enzyme levels to detect muscle damage. Elevated CK levels may indicate neuromuscular involvement but are not specific to SMA.

3. Electromyography (EMG) & Nerve Conduction Study: Evaluates electrical activity in muscles and nerves to distinguish between muscle and nerve disorders. Useful in supporting diagnosis.

4. Newborn Screening: Enables early detection before symptoms appear. Increasingly adopted in healthcare systems to initiate treatment during the presymptomatic stage.

Muscle Biopsy (Rarely Used): Involves removing a small sample of muscle tissue to examine under a microscope. Reserved for atypical or unclear cases when genetic results are inconclusive.

Breakthrough therapies, such as Zolgensma, Spinraza, and Risdiplam, have revolutionized SMA care, enhancing motor function, quality of life, and long-term prognosis. These treatments have brought new possibilities for patients living with this rare genetic disorder.

The SMA therapeutics market is estimated to touch USD 11.9 billion by 2030, growing at a CAGR of 18%. In India, it is expected to reach USD 0.36 billion by FY30.

Key players driving this space include Biogen, Novartis, Roche, Natco, and PTC Therapeutics.

Despite these gains, high treatment costs, limited insurance coverage, and global regulatory bottlenecks continue to restrict access for many patients. However, momentum is growing the diagnostic reach across underserved regions, and a surge in cutting-edge gene, RNA, and combination therapies is signaling a new horizon. Strategic leveraging of government funding and local generic manufacturing may further reduce costs and broaden treatment access.

The Indian government has made significant strides in supporting SMA care through policy and infrastructure. Following a 2024 Delhi High Court directive, an INR 974 crore National Fund for Rare Diseases was established for 2024-26, mandating flexible use beyond the INR 50 lakh cap, fast-tracked drug approvals, and a centralized public portal. Twelve Centers of Excellence now offer multidisciplinary care and financial aid under these schemes. At the state level, Kerala’s KARE program has become a model of success, delivering free newborn screening and early-stage SMA treatment to over 100 children and setting new standards in comprehensive rare disease care

SMA Treatment Breakthrough: Key Highlights 

• Three Approved Therapies
  Zolgensma: A one-time gene therapy for Type 1 SMA in children under 2, priced at INR 17 Cr per dose, making it the world’s most expensive treatment 
  
  Spinraza: A disease-modifying injectable therapy, prescribed every few months, at INR 4.2 Cr (Loading dose) and INR 2.1 Cr (Maintenance dose)
  
  Evrysdi (Risdiplam): An oral, lifelong medication suitable for Types 1-3, originally priced at INR 6 Lacs/bottle
   

• Revolutionary Price Drop with Generic Risdiplam
  Natco Pharma launched India’s first generic Risdiplam on 26 June 2025, priced at just INR 15.9K per bottle, about a 96% price reduction compared to the INR 6 Lacs/bottle innovator version