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A race against time: Why early detection is critical for babies with spinal muscular atrophy

A paediatric neurologist shares more about the warning signs of this genetic disease, as well as the treatment options and supportive therapies available. 

A race against time: Why early detection is critical for babies with spinal muscular atrophy

Early identification of symptoms is crucial for initiating prompt management of spinal muscular atrophy. Photos: Novartis

From the time they are born, babies embark on a remarkable journey of growth. While every child develops at a different pace, most achieve these significant developmental milestones in their first two years of life: Rolling over, sitting, crawling, standing and taking their first steps. 

But for babies and children with spinal muscular atrophy (SMA), developmental milestones may not be met in a timely manner, highlighted Dr Wendy Liew, a paediatrician and child neurologist who runs her own private practice at Mount Elizabeth Medical Centre. 

SMA is a genetic disease that leads to progressive muscle weakness and paralysis. The disease occurs when a missing survival motor neuron (SMN1) results in an insufficient amount of SMN protein, causing muscle weakness and loss of motor functions. While SMA may be relatively rare, affecting one in 10,000 live births globally, its impact can be devastating. 

As the disease progresses, the child may also experience weakness in the muscles involved in swallowing or breathing. “Detecting the warning signs of SMA early is essential as delays in treatment can lead to irreversible motor neuron loss. When left untreated, SMA can be fatal for some children,” shared Dr Liew. 

THE DIFFERENT TYPES AND SYMPTOMS OF SMA

Parents play a key role in keeping a lookout for SMA symptoms.

SMA screening is currently not standard practice in routine newborn screening in Singapore, said Dr Liew. As such, parents may need to exercise vigilance and seek medical advice promptly if they notice certain warning signs. For instance, babies with SMA may have poor head control and have trouble rolling, sitting up or standing at the expected age. 

Other than anecdotal observation, the condition can also be detected during routine developmental assessments. Dr Liew elaborated: “The babies may be more ‘floppy’ than usual and show symptoms that suggest muscle weakness. These signs are red flags for doctors to refer their patients for more specialised investigations to find out the underlying cause.” 

In SMA, the younger the child is when symptoms first manifest, the more severe the disease tends to be. However, Dr Liew also highlighted the fact that not all developmental delays are SMA-related. Type 1 SMA, also known as infantile-onset SMA, affects infants from birth up to six months of age.

Children with severe forms of SMA may not be able to achieve developmental milestones such as sitting.

Additionally, recurrent chest infections can be an indicator of the condition. “With Type 1 SMA, even a very mild viral infection may lead to the child being hospitalised or requiring ventilation support. The child may have problems eating and swallowing, leading to choking during feeds,” said Dr Liew. 

Type 2 generally impacts children aged between six and 18 months, while the symptoms for Type 3, often milder in form, typically emerge starting from 18 months of age. Type 4, the least severe form of SMA, can develop in young adulthood. 

Older children with the milder form of SMA are capable of standing and walking, but may encounter varying degrees of motor challenges. 

THE GENETIC FACTOR 

When it comes to SMA, understanding the genetic context is important. A child has a one-in-four chance of developing SMA when both parents are carriers of the SMN1 gene

Global statistics show that approximately one in 54 people are SMA carriers. However, parents are often unaware that they are carriers, as they typically do not exhibit any symptoms. 

“One only finds out if one is a carrier via genetic tests. So whenever a family has a confirmed case of SMA, we will offer to screen both parents to assess their carrier status, which could have implications if they’re contemplating having more children,” shared Dr Liew.

TREATMENT OPTIONS AVAILABLE

According to Dr Liew, current treatments for SMA encompass disease-modifying therapies that target the underlying cause of the disease. These include gene therapy and long-term gene modulators. 

Gene therapy for SMA is a one-time treatment that aims to replace the defective or missing SMN1 gene. She explained: “When a functional copy of the SMN1 gene is provided (with the use of gene therapy), this prevents the motor neurons from degenerating further.”  

The specialist pointed out that once motor neurons degenerate, the loss cannot be reversed. Hence, the age at which gene therapy is administered makes a critical difference, with the greatest benefit seen when treatment is administered at the pre-symptomatic stage. She said: “For a child with SMA, motor neuron and muscle loss is progressive. When you stop the process through gene therapy, you preserve more motor neurons.”   

Another type of treatment works by leveraging the SMN2 gene to produce more SMN protein. However, Dr Liew noted that this option does not halt motor neuron degeneration. Administered on a long-term basis, the treatment is given as an injection into the spinal fluid or as an oral medication.  

SUPPORTIVE THERAPY MATTERS, TOO

Recent strides in SMA treatments, coupled with supportive care, have enhanced the prognosis for SMA patients.

In addition to medical treatment, supportive therapy plays an important role in helping SMA patients manage their symptoms, Dr Liew said. This takes the form of occupational therapy, physiotherapy and speech therapy, among others. 

“These adjunctive therapies work in tandem with medical treatment, helping to prevent complications such as joint contractures that can lead to functional limitations,” she explained. 

Physiotherapy and occupational therapy can help strengthen muscles, as well as correct or improve sitting and standing posture. A therapist may also suggest walking aids or orthosis (such as a brace), if needed. 

With a supportive multidisciplinary care team and recent advances in treatments, the outlook for children with SMA has improved. “Every child with SMA experiences the disease differently, and discussing appropriate care options with the care team can enhance the child’s quality of life,” said Dr Liew.

For families impacted by SMA, each achieved milestone of the child is a cause for celebration. Said Dr Liew: “The simple act of sitting up or having fewer infections can be considered a positive outcome.”  

Find out more about spinal muscular atrophy.  

This advertorial is meant for disease awareness and educational purposes only, and does not endorse, make reference to and/or recommend any product. Reach out to your prescribing physician for more information.

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