Updated SMA animation educates on importance of early diagnosis and treatment

Every five days in the UK a baby is born with spinal muscular atrophy (SMA) and early diagnosis is crucial to maximise the effectiveness of the revolutionary treatments now available for the condition.

The UK National Screening Committee is currently reviewing evidence to decide whether newborn screening for SMA should be undertaken to reflect the progress in the treatments now available - of which there are now three approved. These treatments can have a significant impact on quality of life and outcomes for a baby, child or adult living with SMA, as well as those of their families.

Last year, Neuromuscular Academy developed an animation in collaboration with faculty lead Dr Vasantha Gowda to educate healthcare practitioners on earlier diagnosis of SMA reinforcing that 'every day counts in SMA'.

This year, in light of the rapidly shifting treatment landscape, we have updated it to reflect the options - and hope - presented by these new treatments, and to highlight again the importance that early diagnosis plays in maximising the impact of these treatments.

The original version of this animation (published May 2021) was supported by sponsorship from Biogen Idec Ltd. Biogen Idec Ltd has had no control over the educational content of the original or updated version of this animation.

This updated version of the animation (published Nov 2022) has been funded by sponsorship from Novartis Gene Therapies EU Limited and supported by Roche Products Limited. Neither Novartis Gene Therapies EU limited nor Roche Products Limited have had no control over the educational content of this activity.

For infants diagnosed with Type 1 SMA within the first six months of life - the most severe form of the condition - speed of diagnosis and treatment can have significant long term implications on their range of function and future abilities. A baby with Type 1 can deteriorate quickly, and every day counts in helping them retain as much muscle function as possible.

It is often a primary care practitioner or non-specialist who will see an infant presenting with signs of SMA. Until a newborn screening programme is universally available, ‘every day counts’ for detection, diagnosis and speed of access to treatment, and accessible education like this short animation can make a real difference in how that presentation is responded to.

Neurology Academy supports the UK SMA Newborn Screening Alliance in its lobby to achieve the introduction of a newborn screening programme for SMA and encourages others to add their voice. This information at birth would form an important first step in maximising the opportunities for infants born with SMA, and in ensuring the best possible treatment and management options for them and their families

More information on the importance of early diagnosis and treatment, as well as a free webinar on optimising management of SMA today, and practical support via comprehensive care pathways for infants and adults can be found via Neuromuscular Academy, whilst a business planning webinar for Neuromuscular services on 1st December is designed to help specialists improve local services. You can find all this on our website, or visit the APPG for Muscular Dystrophy to add your voice to the lobby for newborn screening.