This site is intended for UK healthcare professionals only. Designed and funded by Novartis in partnership with experts.

For babies with SPINAL MUSCULAR ATROPHY (SMA)

making a fast diagnosis is vital

Refer babies by 3 months of age for urgent
review by a paediatric neurologist if you see:

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For children with spinal muscular atrophy (SMA) fast diagnosis is vital. This is because any lower motor neuron damage occurring before treatment is irreversible.1,2

As a healthcare professional, you are uniquely placed to spot whether an infant is developing as they should, at a routine check-up, or if parents or caregivers raise any concerns.

Watch this short video for expert insights on SMA

What is SMA?

SMA is a rare, progressive, inherited monogenic disease characterised by lower motor neuron degeneration and muscle weakness.2,3

Untreated SMA is the 2nd most common fatal autosomal recessive disorder after cystic fibrosis and the leading inherited cause of infant mortality.4,5

What is SMA? Icon 1

SMA affects 1 in 10,000 live births and can impact any race or sex6

What is SMA? Icon 2

Around 70 births are affected by SMA per year in the UK7–10

What is SMA? Icon 3

Approximately 40 of those births are the most severe form, SMA Type 17–10

What is SMA? Icon 4

Approximately 1 in every
40–60 people is an SMA carrier1,6

Untreated SMA Type 1 is the number one genetic cause of infant death3,11

SMA Type 1

SMA is typically classified into 4 phenotypes (Types 1 to 4) that range in severity.3 In SMA Type 1, the most severe and common form, most lower motor neuron degeneration occurs in the first few months of life causing rapid and irreversible damage.2,3

Without early diagnosis and expert intervention, infants with SMA Type 1 will never achieve major motor milestones like rolling over or sitting independently.1,12

Download the SMA factsheet for more information

SMA FACTSHEET

In an observational study the majority of infants with SMA Type 1:

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Were unable to breathe or swallow unaided by age 13.5 months13

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Did not survive or needed permanent ventilatory support by 2 years of age13

THE SIGNS OF SMA

SMA is a rare, progressive, inherited monogenic disease characterised by lower motor neuron degeneration and muscle weakness.2,3

Headlag icon

Head lag14,15

From lying supine, hold baby’s hands and pull gently to sitting. Head lag is present if the baby’s neck remains completely extended and lags behind their trunk. By 3 months most infants will either have no head lag or, if present, it should be minor.

Hypotonia icon

Hypotonia16–18

Hypotonia (floppiness) is more prominent in the proximal muscles and affects the legs more than the arms. It can be elicited by holding the baby prone or pulling to sit.

Inability to reach icon

Inability to reach12,15

Up to 3 months of age, most babies should begin to reach for toys and objects. Look out for a baby who is not reaching out for items.

If you see ANY OF these 3 signs BY 3 months of age, refer babies to a GP OR paediatric neurologist for urgent review

Other signs of SMA Type 1 might include:

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Progressive, symmetrical and proximal weakness that affects the legs more than the arms and spares the facial muscles18

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Difficulty with swallowing, leading to choking and aspiration18

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Weak cry2

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Absent or reduced reflexes15

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Tongue fasciculation15

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Abnormal frog-like posture (with legs splayed to the sides) when lying supine19

Unless there is a family history, diagnosis is generally prompted by the clinical signs of SMA18

Causes of SMA

SMA is caused by an absent or dysfunctional
survival motor neuron 1 (SMN1) gene.5,6

The body has a back-up gene, SMN2, however, it is only capable of producing a small amount of functional SMN protein, which is insufficient for motor neuron survival and function.20,21

Click to see the difference:

Unaffected individual

Affected individual

Unaffected individual:

SMN protein is critical for neuronal survival and neuromuscular junction formation; an SMN protein deficiency leads to irreversible neuronal loss21,22

SMN1 is the primary gene that encodes SMN protein with SMN2 as a back-up6,21

Functional SMN protein

Non-functional SMN protein

Importance of early diagnosis

Fast diagnosis is vital in SMA as any lower motor neuron damage that occurs before treatment is irreversible.1,2

Importance of early diagnosis graph

Figured adapted from data in Glascock J, et al. 2018, Finkel RS, et al. 2014, and Lin CW, et al. 2015.2,13,23

*Based on the results of a systematic literature review of 21 studies published between 2000 and 2014. Mean age of onset, diagnosis and delay in diagnosis was extracted or calculated. All estimates were weighted by the number of patients and descriptive statistics reported. The weighted mean (standard deviation) ages of onset was 2.5 (0.6) months for SMA Type I, and the weighted mean (standard deviation) age of confirmed SMA genetic diagnosis was 6.3 (2.2) months. The mean delay in diagnosis was 3.6 months23

Every delay in the diagnosis of SMA Type 1 can jeopardise lower motor neuron survival, directly impacting neuromuscular function2

Early signs of SMA

Early signs of SMA can be attributed to late motor development, but infants with SMA Type 1 deteriorate quickly if left untreated and by 2 years of age, most will not survive or will require permanent ventilatory support.2,13

Materials to support conversations with parents

Parents and caregivers can be directed to www.think3at3months.co.uk for information about 3 developmental milestones in babies at 3 months.

Download our guide to support conversations with parents

CONVERSATION GUIDE WITH PARENTS
Download our Think 3 at 3 Months poster for parents and caregivers which can be displayed in surgeries and clinics

THINK 3 AT 3 MONTHS POSTER

WATCH FULL VIDEO

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Click here to watch Dr Richard Pratt, GP, and Diane Massey, Institute of Health Visiting, discuss with Imran Kausar opportunities in primary care to shorten time to diagnosis and referral of babies with SMA.

Referral

An infant with SMA may rely on your prompt recognition of potential SMA signs and rapid referral to a specialist neuromuscular centre.1,18

Prompt diagnosis can save lives

Diagnosis of SMA Type 1 relies on prompt recognition of the symptoms and timely genetic testing.18

Genetic testing confirms clinical diagnosis

SMN1 genetic testing is recommended first line for investigation of suspected SMA and is highly reliable.18

Immediate referral to specialist care

Following diagnosis, the SMA working group unanimously recommends immediate referral to specialist care to achieve optimal outcomes.2

Refer babies by 3 months of age to a GP or paediatric neurologist for urgent review if you see the following signs:

SMA SYMPTOMS TO DIAGNOSIS: A CASE STUDY

Watch this short video series detailing the story of a family, Bruce, Ashley and baby Hannah, and their journey through referral and diagnosis of SMA. The final video in the series explains the importance of recognising these symptoms as early as possible, to improve the outcomes of children born with SMA.

PAEDIATRIC NEUROMUSCULAR CENTRES OF EXCELLENCE

1
Birmingham Childrens Hospital, University Hospitals Birmingham NHS Foundation Trust

Phone: 0121 424 2000

Visit website

2
Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust

Phone: 0117 923 0000

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3
Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London

Phone: 020 7188 7188

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4
Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust

Phone: 0161 276 1234

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5
Sheffield Children’s NHS Foundation Trust

Phone: 0114 271 7000

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6
Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London

Phone: 020 7405 9200

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7
Leeds Children’s Hospital, Leeds Teaching Hospitals NHS Trust

Phone: 0113 243 2799

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8
Alder Hey Children’s Hospital NHS Foundation Trust, Liverpool

Phone: 0151 228 4811

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9
The Addenbrooke’s Neuromuscular Service, Cambridge

Phone: 01223 245151

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10
Robert Jones and Agnes Hunt Orthopaedic NHS Trust, Oswestry

Phone: 01691 404000

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11
The John Walton Muscular Dystrophy Research Centre, Newcastle

Phone: 0191 241 8757

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12
John Radcliffe Hospital, Oxford

Phone: 0300 304 7777

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13
The Barts Health NHS Trust, London

Phone: 020 7377 7000

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14
Southampton Children’s Hospital, Southampton NHS Trust

Phone: 023 8077 7222

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15
Noah’s Ark Children’s Hospital for Wales, Cardiff and Vale Health Board

Phone: 029 2074 3364

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16
Nottingham Children’s Hospital, Nottingham NHS Trust

Phone: 0115 924 9924

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17
Leicester Royal Infirmary, University of Leicester NHS Trust

Phone: 0300 303 1573

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18
Royal Hospital For Children, Glasgow

Phone: 0141 201 0000

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19
Royal Hospital for Children & Young People, Edinburgh

Phone: 0131 536 0000

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20
Tayside Children’s Hospital, Dundee

Phone: 01382 660111

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21
Royal Aberdeen Children’s Hospital, Aberdeen

Phone: 0345 456 6000

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22
Royal Belfast Hospital for Sick Children, Belfast Trust, Belfast

Phone: 028 9024 0503

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NEWBORN SCREENING

WHY IS SCREENING FOR SMA IN NEWBORNS IMPORTANT?

Fast diagnosis of spinal muscular atrophy (SMA) is vital as any lower motor neuron damage is irreversible. 95% of lower motor neurons are lost by 6 months in babies with SMA Type 1, with devastating effects.1,23

However, there is no national newborn screening (NBS) programme for SMA in the UK.

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Approximately one child every 5 days is born with SMA in the UK, leading to around 70 new cases each year24

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NBS can enable early detection and diagnosis of genetic conditions like SMA, leading to faster access to potentially lifesaving treatments.

Where it is available, NBS has improved the possibility of early intervention in SMA.

Typically, the time from birth until diagnosis for babies with SMA Type 1 is:

Timeline
Timeline

A study has shown that NBS followed by treatment for SMA leads to improved outcomes for babies with SMA and is less costly than a treatment pathway without NBS in England, with lifetime savings of over £62 million for each annual cohort of newborns identified.*27

Download cost-effectiveness infographic

cost-effectiveness infographic

How does the UK compare to other countries’ NBS programmes?

The UK is lagging behind its European peers in its NBS programme, down in 23rd place out of 32 European countries for the number of conditions screened for.28
The UK currently tests for just 9 out of a potential 64 severe diseases.28

Since March 2021, 13 European countries have added SMA to their NBS panels, many of them with far smaller GDPs than the UK, including Ukraine, Poland and Croatia.28

Click below to view the current status of NBS for SMA across Europe29

SMA NBS Alliance MAP
Tom Gillingwater

The progress to include SMA on the newborn screening test panel in the UK is not fast enough, especially as many other countries already provide newborn screening for SMA. Nationwide screening for SMA should be introduced without delay so these babies can be identified for potentially life-changing treatments.

Professor Tom Gillingwater,
University of Edinburgh and Chair
of the SMA Europe Scientific Advisory Board.

*The cost-utility analysis tested 585,195 newborns and identified approximately 56 with SMA (96% of all SMA patients in England). Cost of each heel-prick screening test assumed to be £4.54 (Dutch value [which is in line with other sources in Europe] converted to GBP due to lack of UK-specific data). Cost of each genetic test, which was used for confirmation after a positive heel-prick screening test result, assumed to be £1,200 (based on prices from Oxford Genetic Laboratories assuming both gene sequencing and multiplex ligation-dependent probe amplification were needed). Treatment and administration costs are based on UK list prices and the latest NHS reference costs (2019/2020).27

This campaign runs alongside similar initiatives with information
relevant for Allied Health Professionals and parents/caregivers.
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PARENTS & CAREGIVERS

REFERENCES

1. Govani A, et al. Mol Neurobiol. 2018;55(8):6307–18. 2. Glascock J, et al. J Neuromusc Dis. 2018;5:145–58. 3. Farrar MA, et al. Ann Neurol. 2017;81:355–68. 4. Armstrong EP, et al. J Med Econ. 2016;19(8):822–826. 5. Lally C, et al. Orphanet Journal of Rare Diseases. 2017;12:175. 6. Mendell JR, et al. N Engl J Med. 2017;377(18):1713–22. 7. NDRS. Spinal muscular atrophy type 1: NCARDRS report. Available at: https://digital.nhs.uk/ndrs/data/data-outputs/spinal-muscular-atrophy-type-1-ncardrs-data-briefing/spinal-muscular-atrophy-type-1-ncardrs-report#document-content. Spinal muscular atrophy type 1: NCARDRS report - NDRS (digital.nhs.uk). Date accessed: September 2024. 8. Healthandcare.scot. Every Moment Matters in SMA Screening. 2024. Available at: https://healthandcare.scot/stories/3739/sma-spinal-muscular-atrophy-newborn-screening-very-moment-matters. Date accessed: September 2024. 9. WHSSC. Specialised Services Policy Position PP240: Risdiplam for Spinal Musclar Atrophy for people aged under 16 years. 2022. Available at: https://whssc.nhs.wales/commissioning/whssc-policies/paediatric-services/nusinersen-for-treating-spinal-muscular-atrophy-policy-position-statement-pp191-november-2026/. Date accessed: September 2024. 10. Irish Medical Journal. New Frontiers in the Treatment of Spinal Muscular Atrophy. Available at: https://imj.ie/wp-content/uploads/2022/12/Spinal-Muscular-Atrophy-A-New-Frontier-but-the-Same-Old-Boundaries.pdf. Date accessed: September 2024. 11. Kolb et al. Ann Neurol. 2017;82(6):883-891. 12. De Sanctis R et al. Neuromuscul Disord. 2016;26(11):754–59. 13. Finkel RS et al. Neurology. 2014;83:810–17. 14. Markowitz JA, et al. JOGNN. 2004;33:12–20. 15. Wang CH, et al. J Child Neurol. 2007;22:1027–49. 16. Leyenaar J, et al. Paediatr Child Health. 2005;10(7):397–400. 17. Hammersmith Infant Neurological Examination (v07.07.17). 18. Mercuri E, et al. Neuromusc Disord. 2018;103–115. 19. Kolb SJ and Kissel JT, et al. Neurol Clin. 2015;33(4):831–846. 20. Verhaart IEC, et al. Orph. J Neurol. 2017;264:1465–1473. 21. Anderton RS and Mastaglia FL Expert Rev Neurother. 2015;15(8):895–908. 22. Dimitriadi M, et al. Proc Natl Acad Sci USA. 2016;113(30):E4377–E4386. 23. Lin CW, et al. Pediatr Neurol. 2015;53:293–300. 24. Spinal Muscular Atrophy UK. What is 5q Spinal Muscular Atrophy? 2021. Available at: https://smauk.org.uk/support-information/about-sma/what-is-5q-sma/. Date accessed: September 2024. 25. Vill K, et al. Orphanet J Rare Dis. 2021;16(153). 26. Pera MC, et al. PLoS One. 2020;15(3):e0230677. 27. Weildlich D, et al. Neurol Ther. 2023;12(4):1205–1220. 28. Charles River Associates. CRA Insights: A landscape assessment of newborn screening (NBS) in Europe. February 2024. Available at: https://www.crai.com/insights-events/publications/cra-insights-a-landscape-assessment-of-newborn-screening-nbs-in-europe/. Date accessed: September 2024. 29. SMA NBS Alliance. Status map. Available at: https://www.sma-screening-alliance.org/map. Date accessed: September 2024.