The needs of people with SMA has 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.1-3
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.
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Considerable research has been conducted into SMA in recent years, and as of November 2019:4-7
77%
INCREASE
in scientific papers on SMA between 2001-2011 and 2011-2020*5,6
57
CLINICAL TRIALS
currently studying SMA*7
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STARTING WITH GENETIC TESTING
It is important that your patients are genetically tested.
Once referred, a specialist neurologist will provide your patient with a genetic test (if they haven’t had one already).
Genetic testing will identify whether your patient is eligible for care options that are suitable for those with a specific genetic diagnosis.8
If your patient has a condition that is not SMA, referral will allow other care options to be discussed.9
In 2007, an International Conference on the Standards of Care for SMA published a consensus statement on SMA standards of care that has been widely used throughout the world.10
In 2018, a two-part update of these earlier recommendations was published, which includes changes to the management and care of patients with SMA, along with information around new care options.1,2
Access the new standards of care here:
Updates on diagnosis, rehabilitation, orthopaedic and spinal management; and nutritional, swallowing and gastrointestinal management:1
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.
References
1. 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.
2. Finkel RS, Mercuri E, Meyer OH, 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.
3. Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep 2017;17(11):91.
4. Juntas Morales R, Pageot N, Taieb G, et al. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris) 2017;173(5):308-319.
8. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79(18):1889-1897.
9. Visser J, van den Berg-Vos RM, Franssen H, et al. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology 2002;58(11):1593-1596.
10. Wang CH, Finkel RS, Bertini ES, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol 2007;22(8):1027-1049.
