🎗️ About the Condition

About SMA

Understanding SMA is the first step towards hope. Learn about what it is, its types, symptoms, and the path forward.

The Condition

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the nerve cells in the spinal cord, leading to progressive muscle weakness and loss of movement.

The condition is caused by a mutation in the SMN1 gene, which produces a protein essential for motor neuron survival. Without this protein, motor neurons progressively degenerate.

Early diagnosis and timely treatment can make a significant difference in the quality of life for people with SMA.

Affects approximately 1 in 10,000 live births
Most common genetic cause of infant mortality
Autosomal recessive inheritance — both parents carry the gene
Newborn screening can enable early intervention
Breakthrough treatments now available in India
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By the Numbers

SMA in India — Key Facts

1 in 10,000
Estimated incidence of SMA worldwide — meaning thousands of new cases in India each year
60%
Of all SMA cases are Type I — the most severe form — requiring critical early intervention
2 years
Average delay from symptom onset to SMA diagnosis in India due to low awareness
Classification

Types of SMA

There are different types of SMA. Each type varies in severity and age of onset.

1

Type 1 — Werdnig-Hoffmann

Onset: 0–6 months

Most severe form. Symptoms appear within the first 6 months of life. Children with Type I cannot sit independently and may have breathing difficulties.

2

Type 2 — Intermediate

Onset: 6–18 months

Symptoms appear between 6 to 18 months. Children may sit but not walk. They may lose abilities over time and need support for respiratory function.

3

Type 3 — Kugelberg-Welander

Onset: After 18 months

Milder form. Symptoms appear after 18 months. Children can walk but may gradually lose the ability. Life expectancy is generally normal.

4

Type 4 — Adult Onset

Onset: Adulthood

Rarest form. Symptoms appear in late teens or adulthood, typically after age 21. Progression is slow and life expectancy is not significantly affected.

Recognition

Symptoms & Warning Signs

Early recognition of SMA symptoms is critical for timely treatment and better outcomes.

Muscle Weakness

  • • Floppy or limp body (hypotonia)
  • • Inability to hold head up
  • • Difficulty sitting or standing
  • • Progressive loss of motor skills

Breathing Issues

  • • Weak cry or cough
  • • Frequent respiratory infections
  • • Shallow or labored breathing
  • • Noisy breathing while sleeping

Feeding & Swallowing

  • • Difficulty swallowing or feeding
  • • Tongue fasciculations
  • • Poor weight gain
  • • Drooling or choking
Care Pathways

Treatment Options

Modern medicine has brought new hope for SMA patients with breakthrough treatments now available in India.

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Medication

Nusinersen (Spinraza), Risdiplam (Evrysdi)

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Physiotherapy

Structured exercises to maintain mobility and strength

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Nutritional Support

Dietitian-guided nutrition for optimal growth

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Respiratory Care

Ventilator support and airway management

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Gene Therapy

Onasemnogene (Zolgensma) — one-time treatment

💡 Early treatment — ideally before symptoms appear — leads to significantly better outcomes. Newborn screening is now available in select hospitals across India.

Get Support for Your Child

Our team of specialists and counsellors are ready to help you navigate the journey of SMA with expert guidance, compassion and community.

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