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Spinal Muscular Atrophy in Adult Neurology Services in India
Farsana Mustafa1, William L Macken2,3, Lindsay A Wilson2
1Department of Neurology, AIIMS, New Delhi, India.
Insights
Adult spinal muscular atrophy (SMA) diagnosis in India faces challenges, with many misdiagnosed. A genetics-first approach is crucial for timely treatment and access to therapies for adult SMA patients.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Spinal muscular atrophy (SMA) research primarily targets pediatric cases, leaving a gap in understanding adult SMA, especially in low- and middle-income countries (LMICs).
- Adult SMA presents diagnostic complexities, often leading to misclassification with other neuromuscular disorders.
Purpose of the Study:
- To investigate the characteristics and diagnostic challenges of adult spinal muscular atrophy (SMA) in a tertiary care center in northern India.
- To evaluate the utility of a genetics-first approach in managing adult SMA patients.
Main Methods:
- Prospective recruitment of suspected adult SMA patients (≥12 years) into a neuromuscular disease cohort.
- Utilized phenotyping, creatine kinase levels, electrophysiology, and genetic testing for diagnosis.
- Included 40 genetically confirmed adult SMA patients in the analysis.
Main Results:
- The commonest presentation was proximal lower-limb weakness (82.5%).
- A significant proportion (45%) were initially misdiagnosed with conditions like muscular dystrophy or congenital myopathy.
- Three patients initiated treatment with risdiplam.
Conclusions:
- Adult SMA diagnosis in resource-limited settings is challenging, underscoring the need for a genetics-first strategy.
- Early genetic confirmation is vital to reduce diagnostic delays, prevent misclassification, and facilitate access to disease-modifying therapies.
- This approach can improve outcomes for eligible adult SMA patients in LMICs.
Abstract:
Spinal muscular atrophy (SMA) research has focused predominantly on paediatric populations, with limited adult data from low- and middle-income countries (LMICs). We prospectively recruited suspected SMA patients (age ≥ 12 years) into a neuromuscular disease cohort at a tertiary centre in northern India, using phenotyping, creatine kinase, electrophysiology and genetic testing. Forty genetically confirmed patients were included (median age 20.5 years; mean symptom duration 14.7 ± 10.9 years). Proximal lower-limb weakness was the commonest presentation (82.5%). Forty-five percent were misdiagnosed as muscular dystrophy or congenital myopathy. Three SMA patients received risdiplam. Our cohort highlights the diagnostic challenges of adult SMA and supports a genetics-first approach. Early genetic confirmation shortens diagnostic delay, reduces misclassification and helps eligible patients benefit as disease-modifying therapies become more affordable in resource-limited settings.
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