Two life-changing treatments for spinal muscular atrophy (SMA) have been approved for routine NHS use, offering renewed hope to hundreds of children. Nusinersen and risdiplam were previously available only through a special scheme, but the National Institute for Health and Care Excellence (NICE) has now officially approved them for widespread use across England.
What is SMA?
SMA is a rare genetic condition that causes muscle weakness by damaging motor neurons. Dr Charlotte Roy from Muscular Dystrophy UK explains: 'SMA affects the motor neurons that send signals from the brain to the muscles. As these neurons break down, muscles become weak and waste away.' The most common and severe form, Type 1, appears within the first six months of life.
Five Early Signs of SMA
Here are key symptoms parents should watch for:
- Profound muscle weakness: Babies with SMA often have low muscle tone and appear floppy because their muscles are not receiving signals from the brain.
- Feeding and breathing difficulties: Weakness in muscles needed for swallowing and breathing can cause choking or respiratory issues, especially when introducing solid foods.
- Unable to sit up alone: Weak core muscles prevent babies from reaching this milestone.
- Poor head control: Neck muscle weakness makes it hard for babies to lift their heads.
- Recurring chest infections: Respiratory issues are common due to weakened breathing muscles.
When to Seek Help
Dr Roy advises: 'If you notice anything unusual, talk to your GP. It likely won't be SMA, but early diagnosis is key. A GP can refer to a neuromuscular specialist for genetic testing.' Early treatment protects motor neurons from irreversible damage, improving outcomes.
Without intervention, severe SMA can lead to death before age two. However, NHS England reports that 73 children with SMA have now survived to age five or older thanks to these therapies.
