Seeing a newborn baby struggling and starting to walk is a great joy for any mother or father. But sometimes, we see a lack of muscle strength and movement in some children. One reason for this could be the condition we are talking about today called Spinal Muscular Atrophy , or SMA for short. Although this is a bit of a serious topic, it is very important to be properly informed about it.
Simply put, what is Spinal Muscular Atrophy (SMA)?
Spinal Muscular Atrophy (SMA) is a genetic disease. The muscles in our body are controlled by a type of nerve cell. We call these motor neurons . Think of it like your brain is your main power plant. From there, these motor neurons are the 'wires' that carry electrical signals to the muscles in your arms and legs. In SMA, these motor neurons in the spinal cord are damaged and gradually weaken. When these 'wires' weaken, the signals from the brain don't reach the muscles properly. As a result, the muscles start to contract and weaken.
It can affect both children and adults. For a child to develop the disease, the gene that causes the disease must be inherited from both parents. About one in 50 adults in the community may be a carrier of this gene. This means that even though they have the disease gene in their body, they do not show symptoms. However, there is a chance that a child will inherit this disease from two parents who are carriers. On average, about one in 10,000 children born can develop this condition.
Importantly, the severity of SMA varies depending on the age at which symptoms begin to appear. Generally, if symptoms begin in infancy, the condition can be more severe.
The main types of SMA disease and their characteristics
Doctors divide this disease into several main types based on the time of onset and severity of symptoms. Let's take a look at each type in more detail.
| SMA Type | Time of onset of symptoms | Main features and details |
|---|---|---|
| Type 0 | From before birth |
|
| Type 1 (Werdnig-Hoffmann disease) | By about 3 months | |
| Type 2 | Between 7 and 18 months | |
| Type 3 (Kugelberg-Welander disease) | In late childhood or young adulthood | |
| Type 4 | In adulthood (usually after age 30) |
Why should you be concerned about these symptoms?
As you can see, SMA mainly affects the muscles that help the body move. But it doesn't stop there.
- Breathing: The muscles in our chest help us breathe in and out. When these muscles become weak, we cannot breathe properly. This can lead to frequent respiratory infections like pneumonia.
- Eating: The muscles in our throat and mouth help us swallow and suck food. When they are weak, a child cannot suckle or swallow food properly. This can lead to malnutrition.
- Body shape: When the muscles that help keep the spine straight weaken, the spine begins to curve (scoliosis). This can make breathing more difficult.
Is there any treatment?
There is still no cure for SMA. However, in recent years, advances in medical science have introduced several new treatments that can control the progression of the disease and manage symptoms.
For example, two treatments approved by the US FDA are:
- Nusinersen (Spinraza)
- Onasemnogene abeparvovec-xioi (Zolgensma)
These are very complex and expensive treatments that work at the genetic level. It is essential to talk to your doctor about their availability and availability in Sri Lanka.
Important: Only the specialist who examines you or your child should decide what treatment is best for you or your child. Never make decisions based on information found on the Internet.
In addition, physiotherapy, breathing exercises, nutritional advice, and, if necessary, surgery (e.g., spinal fusion) help improve the patient's quality of life and prevent complications.
Take-Home Message
- Spinal Muscular Atrophy (SMA) is a genetic disease that affects the nerve cells that control our muscles.
- This disease is divided into several types based on the age at which symptoms begin. If symptoms begin at a young age, the condition can be more serious.
- If your child's body is "lumpy" and has difficulty lifting their head, rolling over, or sitting up, see a qualified pediatrician immediately.
- Although SMA cannot be completely cured, modern treatments and methods such as physical therapy can help control the disease and improve quality of life.
- Any treatment decision should only be made after discussion with your doctor.
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