Posted by Ros Connors

Patients with rare genetic condition likely to slip through NET

Spinal muscular atrophy (SMA) is a rare genetic condition which causes progressive muscle wastage (atrophy) and weakness, leading to loss of movement. It affects approximately one in 10,000 babies and is the leading genetic cause of infant mortality.

With medicines now available that can change the course of the condition, and ongoing improvements in neuromuscular service provision, people with SMA have greater access to vital support than ever before, as well as potential treatment options.

But as many as 1 in 3 of those living with the condition still don’t know about the developments in SMA treatment and services and could be missing out on this vital care.

Ros spoke to social media fluencer Tess Daly, Katie Nevin, clinical specialist physiotherapist in neuromuscular disorders and advocacy lead Portia Thorman.

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