NHS Approves Two Treatments for Spinal Muscular Atrophy

The National Institute for Health and Care Excellence has approved two treatments for routine use across the NHS in England to treat spinal muscular atrophy. Nusinersen, an injectable drug, and risdiplam, an oral treatment, were previously accessible only through a special scheme while additional evidence on their effectiveness was collected.

NHS England reported that the therapies have helped 73 children with the condition survive to age five or older. Without medical intervention, the most severe form of spinal muscular atrophy, known as Type 1, can progress quickly. Life expectancy for untreated Type 1 is estimated at less than two years, according to Muscular Dystrophy UK.

What is SMA?

The NHS defines spinal muscular atrophy as a rare genetic condition that causes muscle weakness. It affects the motor neurons that send signals from the brain to the muscles. A representative from Muscular Dystrophy UK stated that 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.

In most cases, it is caused by a change in the SMN1 gene located on chromosome 5. There are several types of SMA. Type 1 is the most common and severe, with symptoms normally appearing within the first six months.

Parents should monitor for profound muscle weakness, as the breakdown of motor neurons prevents signals from reaching the muscles. This results in limited movement. Difficulties with feeding and breathing can occur because motor neurons also control muscles used for swallowing and respiration.

These issues may become more noticeable when infants transition to solid foods and can lead to choking. Failure to meet developmental milestones is another indicator. One key milestone to watch is the ability to sit up unsupported. Poor head control, due to weakness in the neck muscles, is also common.

Recurring chest infections are more frequent in babies with SMA Type 1 because of higher risk of respiratory issues.

A representative from Muscular Dystrophy UK advised that if parents notice anything that does not seem right, they should talk to their GP. The GP can refer concerns to a neuromuscular specialist for diagnosis. Early diagnosis is important because once motor neurons have died, they cannot be restored. Protecting remaining motor neurons is a priority with available treatments.