Two life-changing treatments have been given the green light for routine NHS use, offering renewed hope to hundreds of children living with spinal muscular atrophy (SMA).
Nusinersen, an injectable drug and the first-ever disease-modifying therapy for SMA, and oral treatment risdiplam were previously only accessible through a special scheme while further evidence on their effectiveness was gathered.
However, the National Institute for Health and Care Excellence (NICE) has now officially approved both treatments for routine and widespread use across the NHS in England.
Without medical intervention, symptoms of the most severe form of SMA (Type 1) can progress quickly, with life expectancy estimated at less than two years, according to Muscular Dystrophy UK, but now NHS England said the therapies have now helped 73 children with the condition survive to aged five or older.
Many people first became aware of SMA after singer and former Little Mix member Jesy Nelson began speaking publicly about the condition at the beginning of the year, following the diagnosis of her twins, Ocean Jade and Story Monroe.
However, despite this increased attention, awareness of the causes and symptoms of this rare disease remains limited. We spoke to Dr Charlotte Roy, life sciences policy and influencing manager at Muscular Dystrophy UK, who has explained exactly what SMA is and has highlighted five key early signs that parents should look out for.
What is SMA?
The NHS defines SMA as a rare genetic condition that can cause muscle weakness.
“SMA is a genetic condition that affects the motor neurons which send electrical signals from the brain to the muscles to tell them to move,” explains Roy.
“As part of SMA, the motor neurons start to get damaged and break down, which means the message from the brain through to the muscles can’t happen. As a result, the muscles will start to get weak and progressively waste away.”
This happens because in most cases, SMA is caused by a change in the SMN1 gene located on chromosome 5 (5q), according to Muscular Dystrophy UK’s website.
There are several different types of SMA.
“SMA Type 1 is the most common and severe type, and the symptoms normally appear within the first six months,” says Roy.
Symptoms can vary and depend on how severe the condition is and how much it has progressed, but here are five common early signs of SMA to look out for in babies…
1. Profound muscle weakness
“When the motor neurons break down, the signal from the brain to the muscle can’t get through. And if the signal doesn’t get through to the muscles, the muscles don’t move,” explains Roy.
“This leads to low muscle tone and floppiness in babies with SMA because their muscles aren’t as strong as they should be as they start to waste away.”
2. Difficulties with feeding and breathing
“Motor neurons control the signals for all muscles within the body, including the muscles that you need to use to breathe and swallow, so babies with SMA often experience difficulties breathing and swallowing,” says Roy.
This can become more obvious when they start move onto eating more solid foods.
“If they struggle swallowing food this can potentially lead to choking,” says Roy.
3. Unable to sit up alone
“One missed milestone to look out for is being able to sit up unsupported,” says Roy. “Babies with SMA are often not able to sit up unsupported because they’ve got weak core muscles.”
4. Poor head control
“Similarly, check to see if are unable to raise their head, because SMA can led to weakness in the neck muscles,” says Roy.
5. Recurring chest infections
According to Muscular Dystrophy UK, babies and children with SMA type 1 are at higher risk of respiratory issues and chest infections.
“Babies with SMA often get more chest infections, so that’s another sign to look out for,” says Roy.
When to seek advice:
“If you notice anything that you think isn’t quite right, I would recommend going to talk to your GP about it,” advises Roy. “It most likely won’t be SMA, but it’s important to get any concerns checked out just in case, because with SMA early diagnosis is key.
“The GP will refer anything on to a neuromuscular specialist who can start the diagnosis process. Diagnosis usually involves genetic testing, because it’s a genetic condition.”
Why is early diagnosis so important?
“Once your motor neurons have died, you can’t bring them back. Therefore, we want to protect those motor neurons as much as possible,” says Roy. “Early diagnosis means earlier treatment and better outcomes for the babies.”