Spinal Muscular Atrophy Awareness Month | August
Learn about Spinal Muscular Atrophy (SMA), its early signs, symptoms, inherited risk and the importance of timely medical care and genetic testing.
A baby is unable to hold up their head. A child keeps falling while walking. Another child finds it difficult to climb stairs.
Sometimes, these may be part of normal development. But they can also be warning signs of a rare genetic condition called Spinal Muscular Atrophy, or SMA.
Recognising the signs early can help families seek the right medical advice.
What is SMA?
Think of the brain and muscles as two friends talking on a telephone.
The brain gives an instruction, such as “move your leg.” Special nerve cells called motor neurons carry this message to the muscles. The muscles then move.
In SMA, these nerve cells gradually stop working. The brain may send the instruction, but the message does not reach the muscles properly. As a result, the muscles become weak and may shrink over time.
SMA mainly affects movement. It usually does not affect a child’s intelligence or ability to learn.
Why does SMA happen?
Our genes are like instruction books that tell the body how to work. A gene called SMN1 helps the body make a protein that keeps motor neurons healthy.
Most children with SMA inherit a non-working copy of the SMN1 gene from both parents. Without enough SMN protein, the motor neurons become damaged, and the muscles receive weaker signals.
The parents usually do not have SMA themselves. They may be healthy carriers of the genetic change.
If both parents are carriers, every pregnancy has:
- A 25% chance that the child will have SMA
- A 50% chance that the child will be a healthy carrier
- A 25% chance that the child will neither have SMA nor be a carrier
SMA is not contagious. It is also not caused by anything the parents did or did not do.
SMA around the world and in India
Worldwide, SMA is estimated to affect approximately 1 in every 6,000 to 10,000 newborns.
India does not yet have a complete national count of people living with SMA. However, studies from North India suggest that approximately **1 in 30 to 1 in 38 people may carry a genetic change associated with SMA.
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Carriers are usually healthy and may not know that they carry the genetic change.
What symptoms should parents notice?
SMA can begin at different ages, and its symptoms may vary from person to person.
In babies
A baby may:
- Feel unusually floppy when held
- Have difficulty holding up the head
- Move the arms or legs less than expected
- Be late in rolling over or sitting
- Have difficulty sucking, swallowing or feeding
- Develop breathing difficulty or repeated chest infections
In toddlers and children
A child may:
- Be late in sitting, standing or walking
- Fall frequently
- Have difficulty running or climbing stairs
- Struggle to get up from the floor
- Develop shaking or trembling in the hands
- Lose a movement skill they could previously perform
- Develop a curved spine
In teenagers and adults
Symptoms may include:
- Gradual weakness in the arms or legs
- Difficulty walking long distances
- Trouble climbing stairs
- Difficulty getting up from a chair
- Muscle cramps, shaking, or tiredness
Normal development or a warning sign?
Every child develops differently. One late milestone or an occasional fall does not necessarily mean that a child has SMA.
| Sr.no | Common childhood experience | Possible warning sign |
|---|---|---|
| 1 | Feeling tired after active play | Weakness even without much activity |
| 2 | Falling occasionally while learning to walk | Frequent falls or increasing difficulty walking |
| 3 | Reaching a milestone slightly late but continuing to improve | Not gaining new movement skills |
| 4 | Temporary weakness during an illness | Weakness that continues or becomes worse |
| 5 | Needing help with a difficult physical task | Struggling with everyday activities such as sitting, standing, or climbing stairs |
| 6 | Learning a skill and continuing to use it | Losing a skill the child could previously perform |
These signs can also occur in other health conditions. Symptoms alone cannot confirm SMA.
Why does early diagnosis matter?
SMA can usually be confirmed through clinical assessment and a specific genetic test of the SMN1 gene.
Treatments and supportive care are now available to help manage SMA and improve quality of life. In general, identifying the condition early allows the medical team to begin appropriate care sooner.
When should you seek medical advice?
Consult a paediatrician or paediatric neurologist if your child:
- Is not reaching expected movement milestones
- Appears unusually floppy or weak
- Falls frequently
- Is losing a skill they previously had
- Has difficulty feeding or swallowing
Breathing difficulty or severe swallowing difficulty requires urgent medical attention.
If SMA is present in your family, or you are planning a pregnancy and are concerned about inherited risk, speak with a qualified doctor or genetic counsellor for appropriate guidance.
Take a Step Towards Informed Health Decisions with QUA Diagnostics
Spinal Muscular Atrophy (SMA) is a genetic condition where early awareness and appropriate medical guidance can make a meaningful difference. If you have a family history of SMA or concerns about inherited genetic conditions, understanding your genetic risk can help you make informed decisions with your doctor.
At QUA Diagnostics, we offer advanced genetic testing services to help individuals and families understand inherited health risks. Speak with our team to learn about the appropriate genetic testing options based on your personal and family history.
**Don’t ignore the signs. Don’t ignore your family history.
Talk to QUA Diagnostics today and take an informed step towards understanding your genetic health.
Book a Genetic Test / Talk to Our Genetic Testing Team at QUA Diagnostics.
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This SMA Awareness Month, let us learn the signs, support affected families, and encourage timely medical care.
Persistent weakness should not be ignored. Notice the signs and seek help early.
This blog is intended for general awareness and should not replace medical advice, diagnosis, or treatment.