Detecting impaired motor function as early as possible after birth with the help of a standard camera linked to intelligent systems can help in diagnosing infantile conditions characterised by hypotonia: reduction or loss of active muscle movement. A research team is investigating this approach based on the work carried out on babies with spinal muscular atrophy (SMA), a rare genetic neuromuscular disorder.

In 2019, the drug Zolgensma made headline news as the world’s most expensive treatment. The price of this medicine for spinal muscular atrophy (SMA) has been set at nearly 2 million euros per injection.

And, at the same time, what an extraordinary breakthrough! It promises to provide a definitive cure for a genetic disease that, if survivors do live, leads to extremely severe disabilities in children affected by what is the world’s first hereditary peripheral neurological disorder.

Behind these staggering figures lies an urgent medical situation. For these therapies to be effective, it is essential to identify the condition as early as possible. This is precisely the challenge our team set out to tackle, by using an ordinary camera coupled with artificial intelligence.

The aim was clear from the outset. Too many delays drastically reduce the effectiveness of the treatment. While the treatment can undeniably prevent neurons from dying, it cannot bring them back to life. Any delay in starting treatment – and, consequently, in diagnosis – represents an unacceptable loss of opportunity for patients.

What is spinal muscular atrophy?

SMA is a rare genetic condition that causes the progressive degeneration of the motor neurons that control muscle........

© The Conversation