The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
Spinal muscular atrophy (SMA) is a single-gene disease with a spectrum of clinical presentation,3,4 which may differ according to type, age of onset and severity.4,5
Based on the natural history of the disease, earlier diagnosis could lead to improved outcomes for children with SMA. This makes time to diagnosis critical, even though newborn screening is not yet standard practice.2
Improvement in care leads to improvement in survival. The medical care of SMA over the last decade has improved across all SMA types.4 This has led to a substantial improvement in survival of infantile-onset SMA.6
SMA is a devastating condition for patients and their families.7,8 HCPs are essential in raising awareness of clinical features, thereby helping affected families plan ahead and, ultimately, spend valuable time with their children. Here, four families share their experiences.
SMA is a leading inherited cause of death in infants with an approximate incidence of 1/10,000.9 Over recent years, SMA has been widely researched in children. Here, two key experts give their perspective.
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families.
Photographs are for illustrative purposes only.
Are you able to recognize the SMA signs and symptoms?
Together in SMA was created in support of that unity, and with the goal of becoming a valued tool for members of the team. Here you’ll find clinical information and care strategies that some people use to help manage the disease.
Biogen is building on our legacy of rare disease research and development to explore potential treatment options. And even then, we’ll still be together in SMA.
1. Swoboda KJ, et al. Perspectives on Clinical Trials in Spinal Muscular Atrophy. J Child Neurol. 2007;22:957-66.
2. Rothwell E, Anderson RA, Swoboda KJ, Stark L, Botkin JR. Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy. Am J Med Genet A 2013;161A(4):679-686.
3. Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: URL: https://www.ncbi.nlm.nih.gov/books/NBK1352/pdf/Bookshelf_NBK1352.pdf.
4. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscl Disord 2018;28(2):103-115.
5. MedlinePlus. Medical Encyclopedia. Spinal muscular atrophy. [online] [cited 2020 Sep 30]. Available from: URL: https://medlineplus.gov/ency/article/000996.htm.
6. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69(20):1931-1936.
7. Arnold WD, et al. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157-67.
8. D'Amico A, et al. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.
9. Sugarman EA et al. Eur J Hum Genet. 2012;20(1):27–32.