Did You Know?
1 in 50
carry the defective
SMA gene
SMA (Spinal Muscular Atrophy) is a neuromuscular disease that takes away the ability to move, walk, eat or breathe without assistance. It is the No. 1 genetic killer of small ones.
Do you know how many babies are born with SMA (Spinal Muscular Atrophy) in Malaysia every year?
An estimated
babies are born in Malaysia each year.
babies is born with SMA (world statistic).
That means about 50 babies are born with SMA every year.
This is almost 1 in a week.
Isn’t that worrying? That’s why SMA is the most common rare disorder.
  • Type I: Severe
  • Type II: Intermediate
  • Type III: Mild
  • Type IV
  • Type I: Severe
    Age of onset is <6 months.
    This is the most severe form of SMA.
    Within the first few months of birth, baby may have severe muscle weakness, poor swallowing reflexes and breathing.
    95% will not make it past their second birthday.
  • Type II: Intermediate
    Age of onset is 7–18 months.
    • Delay in meeting motor milestones, or failing to meet milestone entirely.
    • Can sit up without help or with assistance, but unable to walk and require a wheelchair.
    Life expectancy may be shortened.
  • Type III: Mild
    Age of onset is 18 months onwards.
    • Children are able to stand and walk initially, but will grow weaker and many need to use a wheelchair.
    • Chewing & swallowing may be affected later.
    Life expectancy is normal.
  • Type IV
    Age of onset is mid-30s onwards.
    • Late onset, and similar to Type 3, but is less severe.
    Life expectancy is normal.
  • What causes SMA?
    A mutation in the survival motor neuron gene 1 (SMN1).
    This leads to missing neuron protein critical for nerve function & muscle control.
  • How is SMA inherited?

    If both parents are carriers of SMA, there is a 25% chance that when they have a child, the child will have SMA.

  • Who’s affected by SMA?
    • 1 in 10,000 babies.
    • It affects any race or gender.
    • 1 in every 50 persons is a genetic carrier of SMA.
  • Early symptoms of SMA?
    When a child’s growth is delayed & has difficulty in:
    • Holding head up
    • Rolling over
    • Sitting up
    • Standing
    • Walking
Genetic counselling by qualified personnel is advised if there is any family history of the condition or before any genetic testing is done.

Genetic testing is available to confirm the diagnosis of SMA if there is suspicion of the disease based on physical observation. Carrier testing and genetic counselling are offered for adult family members of an affected patient.

If genetic testing yields a negative result but symptoms typical of SMA are observed, further tests such as muscle biopsy and electromyography may be necessary. Prenatal diagnosis and pre-implementation genetic diagnisus are available for couples who are at risk for having an offspring with SMA.
Frequently Asked Questions


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