{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T02:52:50Z","timestamp":1790736770168,"version":"4.1.0"},"reference-count":97,"publisher":"American Academy of Pediatrics (AAP)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,1]]},"abstract":"<jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron (SMN1) gene. SMA is characterized by loss of lower motor neurons (anterior horn cells) in the spinal cord and brainstem nuclei, leading to progressive symmetrical muscle weakness and atrophy. It affects approximately 1 in 6,000 to 1 in 10,000 individuals and is the most common inherited cause of childhood mortality, but this may soon change given recent developments. In December 2016, nusinersen, an antisense oligonucleotide drug, was approved by the United States Food and Drug Administration for the treatment of SMA, and in July 2018, SMA was added to the recommended uniform screening panel, a list of conditions that all states are encouraged to include in their newborn screening (NBS) panels. In this review, we begin with a brief clinical history of the diagnosis of SMA, discuss the current SMA clinical classification system, describe the current treatment, and discuss evolving treatment guidelines. We then discuss the path to include SMA in NBS programs as well as the controversies it engenders because the variability in age at symptom onset means early identification of asymptomatic patients who will not require therapy for years or decades. We also consider alternate population screening opportunities. Next, we consider experimental treatments. We conclude by supporting NBS for SMA with the caveat that a long-term follow-up registry is ethically essential to ensure that the benefits outweigh the harms for all screened infants, including those with milder and\/or later-onset forms of SMA.<\/jats:p>","DOI":"10.1542\/neo.20-8-e437","type":"journal-article","created":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T13:25:18Z","timestamp":1564665918000},"page":"e437-e451","source":"Crossref","is-referenced-by-count":58,"title":["Spinal Muscular Atrophy: Past, Present, and Future"],"prefix":"10.1542","volume":"20","author":[{"given":"Lainie Friedman","family":"Ross","sequence":"first","affiliation":[{"name":"Departments of Pediatrics, Medicine, Surgery and the College; MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago, IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, WI"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2019,8,1]]},"reference":[{"key":"2021121007363196500_B1","volume-title":"Guido Werdnig","author":"Groger","year":"1990"},{"key":"2021121007363196500_B2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/BF01776636","article-title":"Zwei fr\u00fchinfantile heredit\u00e4re F\u00fclle von progressiver Muskelatrophie unter dem Bilde der Dystrophie aber auf neurotischer Grundlage","volume":"22","author":"Werdnig","year":"1891","journal-title":"Arch Psychiatr Nervenkr"},{"key":"2021121007363196500_B3","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/BF01669211","article-title":"Weitere Beitr\u00e4ge zur Lehre von der progressiven neurotischen Muskeldystrophie","volume":"1","author":"Hoffman","year":"1891","journal-title":"Dtsch Z Nervenheilkd"},{"key":"2021121007363196500_B4","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF01668496","article-title":"Ueber chronische spinale Muskelatrophie im Kindesalter auf famili\u00e4rer Basis","volume":"3","author":"Hoffman","year":"1892","journal-title":"Dtsch Z Nervenheilkd."},{"issue":"1-2","key":"2021121007363196500_B5","first-page":"395","article-title":"Hereditary proximal spinal muscle atrophy, a clinical entity simulating progressive muscular dystrophy","volume":"30","author":"Wohlfart","year":"1955","journal-title":"Acta Psychiatr Neurol Scand"},{"issue":"5","key":"2021121007363196500_B6","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1001\/archneurpsyc.1956.02330230050005","article-title":"Heredofamilial juvenile muscular atrophy simulating muscular dystrophy","volume":"75","author":"Kugelberg","year":"1956","journal-title":"AMA Arch Neurol Psychiatry"},{"key":"2021121007363196500_B7","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1001\/archneur.1961.00450140022003","article-title":"Infantile muscular atrophy","volume":"5","author":"Byers","year":"1961","journal-title":"Arch Neurol"},{"issue":"5-6","key":"2021121007363196500_B8","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting. 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