Without intervention, people living with spinal muscular atrophy (SMA) will continue to experience disease progression.1 The ability to stabilise patients’ disease is considered an important goal as it allows valuable motor functions and quality of life to be preserved.
Explore the sections below to learn more about what matters most to patients, as well as the latest updates to standards of care that make referral to an SMA specialist your crucial next step.
HOW WOULD YOUR PATIENTS COPE WITH LOSING BASIC MOTOR FUNCTIONS?
DON’T WAIT TO FIND OUT - REFER THEM TO A SPECIALIST NEUROLOGIST TODAY
Is one of your teenager or adult patients reporting muscle weakness? Less severe forms of SMA can emerge and be diagnosed in adulthood.1,2 Compared to childhood SMA, adult SMA may have milder symptoms, but is still progressive. Compared to SMA in childhood, the course of SMA in adults can be more insidious and difficult to recognise.3
SMA is a disease that will keep on progressing without proper intervention.4 SMA impacts the lives of patients, gradually making them more and more reliant on others to do small things for them – bringing their lives to a standstill.
The needs of people with SMA have evolved. Along with it much has changed in the quality of care and care approaches offered to them. Research into the underlying mechanisms of SMA has transformed the understanding of the disease and led to updated standards of care in terms of support and care options.5-7
Many adults living with SMA lead fulfilling and productive lives. And now that supportive care is improving and the therapeutic landscape is changing, care expectations are even greater.8
It is important that your patients are genetically tested. Genetic testing will identify whether your patient is eligible for care options that are suitable for those with a specific genetic diagnosis.1
HELP YOUR SMA PATIENTS HOLD ON TO THEIR INDEPENDENCE.
REFER THEM TO A SPECIALIST NEUROLOGIST TODAY
1. Kaufmann P, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurol 2012;79:1889-1897.
2. Montes J. Spinal Muscular Atrophy in Adults. [online] [cited 2020 Nov 30]. Available from: URL: https://www.neuropt.org/docs/degenerative-diseases-sig/spinal-muscular-atrophy-in-adults.pdf?sfvrsn=8d2aae96_2.
3. Juntas Morales R, Pageot N, Taieb G, Camu W. Adult-onset spinal muscular atrophy : An update. Rev Neurol (Paris) 2017;173(5):308-19.
4. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22(8):1027-49.
5. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28(2):103-115.
6. Finkel R, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018;28(3):197-207.
7. Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep 2017;17(11):91.
8. Wan HWY, et al. “Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being. Orphanet J Rare Dis 2019;14:74.
9. Rouault F, et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromuscul Disord 2017;27(5):428-438.