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Usually, the mutation in the ''SMN1'' gene is [[Heredity|inherited]] from both parents in an [[autosomal recessive]] manner, although in around 2% of cases it occurs during [[early development]] (''[[De novo mutation|de novo]]'').<ref name="NIH20192" /><ref name=":4">{{Citation|last1=Prior|first1=Thomas W.|title=Spinal Muscular Atrophy|date=1993|url=http://www.ncbi.nlm.nih.gov/books/NBK1352/|work=GeneReviews®|editor-last=Adam|editor-first=Margaret P.|place=Seattle (WA)|publisher=University of Washington, Seattle|pmid=20301526|access-date=2020-10-25|last2=Leach|first2=Meganne E.|last3=Finanger|first3=Erika|editor2-last=Ardinger|editor2-first=Holly H.|editor3-last=Pagon|editor3-first=Roberta A.|editor4-last=Wallace|editor4-first=Stephanie E.}}</ref> The incidence of spinal muscular atrophy worldwide varies from about 1 in 4,000 births to around 1 in 16,000 births,<ref>{{Cite journal|last1=Verhaart|first1=Ingrid E. C.|last2=Robertson|first2=Agata|last3=Leary|first3=Rebecca|last4=McMacken|first4=Grace|last5=König|first5=Kirsten|last6=Kirschner|first6=Janbernd|last7=Jones|first7=Cynthia C.|last8=Cook|first8=Suzanne F.|last9=Lochmüller|first9=Hanns|date=July 2017|title=A multi-source approach to determine SMA incidence and research ready population|journal=Journal of Neurology|language=en|volume=264|issue=7|pages=1465–1473|doi=10.1007/s00415-017-8549-1|issn=0340-5354|pmc=5502065|pmid=28634652}}</ref> with 1 in 7,000 and 1 in 10,000 commonly quoted for Europe and the US respectively.<ref name="NORD20192"/><!--Treatment, prognosis, and epidemiology-->
Outcomes in the natural course of the disease vary from death within a few weeks after birth in the most acute cases to normal [[life expectancy]] in the protracted SMA forms.<ref name="GHR20192" /> The introduction of causative treatments in 2016 has significantly improved the outcomes. Medications that target the genetic cause of the disease include [[nusinersen]], [[risdiplam]],<ref>{{Cite patent|number=US9879007B2|title=Compounds for treating spinal muscular atrophy|gdate=2018-01-30|invent1=Qi|invent2=Choi|invent3=Dakka|invent4=Karp|inventor1-first=Hongyan|inventor2-first=Soongyu|inventor3-first=Amal|inventor4-first=Gary Mitchell|url=https://patents.google.com/patent/US9879007B2/en?oq=9879007}}</ref> and the [[gene therapy]] medication [[onasemnogene abeparvovec]]. [[Supportive care]] includes [[physical therapy]], occupational therapy, respiratory support, nutritional support, [[Orthopedic surgery|orthopaedic interventions]], and [[Mobility aid|mobility support]].<ref name="NIH20192" />
==Classification==
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==== Newborn screening ====
[[Newborn screening|Routine newborn screening]] for SMA is becoming increasingly commonplace in developed countries, given the availability of causative treatments that are most effective at the asymptomatic stage of the disease.<ref>{{cite journal|vauthors=Serra-Juhe C, Tizzano EF|date=December 2019|title=Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors|journal=European Journal of Human Genetics|volume=27|issue=12|pages=1774–1782|doi=10.1038/s41431-019-0415-4|pmc=6871529|pmid=31053787}}</ref><ref>{{cite journal|display-authors=6|vauthors=Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J|date=2018-05-29|title=Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening|journal=Journal of Neuromuscular Diseases|volume=5|issue=2|pages=145–158|doi=10.3233/JND-180304|pmc=6004919|pmid=29614695}}</ref><ref>{{cite journal|vauthors=Dangouloff T, Burghes A, Tizzano EF, Servais L|date=January 2020|title=244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands|journal=Neuromuscular Disorders|volume=30|issue=1|pages=93–103|doi=10.1016/j.nmd.2019.11.002|pmid=31882184|doi-access=free|hdl=2268/242772 |url=https://orbi.uliege.be/bitstream/2268/242772/1/Dangouloff%20ENMC.pdf}}</ref> In 2018, newborn screening for SMA was added to the US list of recommended newborn screening tests<ref>{{Cite web|last=Lopes|first=Jose Marques|name-list-style=vanc|date=2018-07-16|title=SMA Added to List of Recommended Screenings for Disease Given to...|url=https://smanewstoday.com/2018/07/16/sma-added-to-us-list-of-diseases-recommended-for-newborn-screening/|access-date=2020-05-04|website=SMA News Today|language=en-US}}</ref><ref>{{Cite web|last=Stephenson|first=Kristin|name-list-style=vanc|date=2018-07-05|title=SMA Added to National List of Disorders to Screen for at Birth|url=https://strongly.mda.org/sma-added-national-list-disorders-to-screen-for-at-birth/|access-date=2020-05-04|website=Muscular Dystrophy Association|language=en-US}}</ref><ref>{{Cite web|date=2017-07-03|title=Recommended Uniform Screening Panel|url=https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html|access-date=2020-05-04|website=Official web site of the U.S. Health Resources & Services Administration|language=en}}</ref> and as of April 2020 it has been adopted in 39 US states.<ref>{{Cite web|last=McCall|first=Sarah|name-list-style=vanc|title=Newborn Screening for Spinal Muscular Atrophy|url=https://www.curesma.org/newborn-screening-for-sma/|access-date=2020-05-04|website=Cure SMA|language=en-US}}</ref><ref>{{cite journal|display-authors=6|vauthors=Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Albertorio A, Cohen LL, Jain R, Andrew SP, Young SD, LaMarca NM, De Vivo DC, Caggana M, Chung WK|date=June 2018|title=Pilot study of population-based newborn screening for spinal muscular atrophy in New York state|journal=Genetics in Medicine|volume=20|issue=6|pages=608–613|doi=10.1038/gim.2017.152|pmid=29758563|doi-access=free}}</ref> As of February 2023, SMA screening has been incorporated in national newborn screening programmes in around 15 countries and pilot projects are under way in further countries.<ref>{{Cite web |title=SMA Newborn Screening Alliance – SMA: Test at birth, save a life |url=https://www.sma-screening-alliance.org/ |access-date=2023-02-05 |language=en-GB}}</ref>
=== Carrier testing ===
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[[Onasemnogene abeparvovec]] (marketed as Zolgensma) is a [[gene therapy]] treatment which uses self-complementary adeno-associated virus type 9 (scAAV-9) as a vector to deliver the ''SMN1'' transgene.<ref>{{cite web|title=Zolgensma 2 x 1013 vector genomes/mL solution for infusion|url=https://www.medicines.org.uk/emc/product/11572/smpc|website=www.medicines.org.uk|access-date=8 August 2020}}</ref><ref name="FDA Zolgensma label">{{cite web | title=Zolgensma- onasemnogene abeparvovec-xioi kit | website=DailyMed | date=24 May 2019 | url=https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=68cd4f06-70e1-40d8-bedb-609ec0afa471 | access-date=8 August 2020}}</ref> The therapy was first approved in the US in May 2019 as an [[Intravenous therapy|intravenous]] formulation for children below 24 months of age.<ref name="FDA2019">{{cite press release|title=FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality|url=https://www.fda.gov/news-events/press-announcements/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease|website=U.S. [[Food and Drug Administration]] (FDA)|access-date=27 May 2019|date=24 May 2019}} {{PD-notice}}</ref><ref>{{cite web | title=Zolgensma | website=U.S. [[Food and Drug Administration]] (FDA) | date=24 May 2019 | url=https://www.fda.gov/vaccines-blood-biologics/zolgensma | access-date=8 August 2020}}</ref> Approval in the European Union, Japan and other countries followed, albeit often with different approval scopes.<ref name="Zolgensma EPAR">{{cite web | title=Zolgensma EPAR | website=[[European Medicines Agency]] (EMA) | date=24 March 2020 | url=https://www.ema.europa.eu/en/medicines/human/EPAR/zolgensma | access-date=8 August 2020}}</ref><ref>{{Cite press release|url=https://www.novartis.com/news/media-releases/novartis-receives-approval-from-japanese-ministry-health-labour-and-welfare-zolgensma-only-gene-therapy-patients-spinal-muscular-atrophy-sma|title=Novartis receives approval from Japanese Ministry of Health, Labour and Welfare for Zolgensma the only gene therapy for patients with spinal muscular atrophy (SMA)|website=Novartis|access-date=8 August 2020}}</ref>
[[Risdiplam]] (marketed as Evrysdi) is a medication taken [[Oral administration|by mouth]] in liquid form.<ref name="FDA risdiplam" /><ref name="Evrysdi label">{{cite web |url=https://www.gene.com/download/pdf/evrysdi_prescribing.pdf | publisher=Genentech | title=Evrysdi (risdiplam) for oral solution | access-date=8 August 2020}}</ref> It is a [[pyridazine]] derivative that works by increasing the amount of functional [[survivor motor neuron]] protein produced by the [[SMN2|''SMN2'' gene]] through [[alternative splicing|modifying its splicing pattern]].<ref>{{cite web| url=https://smanewstoday.com/rg7916-rg7800-roche-ptc-smaf | title=RG7916 | author=Maria Joao Almeida | publisher=BioNews Services | date=2016-09-08 | access-date=2017-10-08 }}</ref><ref>{{cite journal | vauthors = Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, Petruska J, Narasimhan J, Dakka A, Welch EM, Karp G, Chen KS, Metzger F, Ratni H, Lotti F, Tisdale S, Naryshkin NA, Pellizzoni L, Paushkin S, Ko CP, Weetall M | display-authors = 6 | title = Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy | journal = Human Molecular Genetics | volume = 25 | issue = 10 | pages = 1885–1899 | date = May 2016 | pmid = 26931466 | pmc = 5062580 | doi = 10.1093/hmg/ddw062 }}</ref> Risdiplam aims to increase the amount of SMN protein so that there is enough protein to sustain the peripheral nervous system tissues which are usually the most damaged by SMA.<ref>{{cite journal |last1=Zhu |first1=Xiaoying |title=Comparison of Nusinersen and Evrysdi in the Treatment of Spinal Muscular Atrophy |journal=E3S Web Conferences |date=15 June 2021 |volume=
=== Breathing ===
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[[Branaplam]] is another ''SMN2'' splicing modulator that has reached the clinical stage of development.<ref>{{cite web |url=http://www.curesma.org/news/novartis-branaplam-update.html |title=Novartis Releases Update on LMI070 (Branaplam) Clinical Trial |publisher=CureSMA |access-date=2017-10-07 |archive-date=25 November 2017 |archive-url=https://web.archive.org/web/20171125171712/http://www.curesma.org/news/novartis-branaplam-update.html |url-status=dead }}</ref>
Historically, this research direction investigated also other molecules. RG3039, also known as Quinazoline495, was a proprietary [[quinazoline]] derivative developed by [[Repligen]] and licensed to [[Pfizer]] in March 2014 which was discontinued shortly after, having only completed phase I trials. PTK-SMA1 was a proprietary small-molecule splicing modulator of the [[tetracycline]]s group developed by Paratek Pharmaceuticals and about to enter clinical development in 2013 which however never happened due to Paratek downsizing at that time. RG7800, developed by Hoffmann-La Roche, was a molecule akin to risdiplam that has undergone phase I testing but was discontinued due to animal toxicity.<ref name="Kletzl Marquet Günther Tang 2019 pp. 21–29">{{cite journal | last1=Kletzl | first1=Heidemarie | last2=Marquet | first2=Anne | last3=Günther | first3=Andreas | last4=Tang | first4=Wakana | last5=Heuberger | first5=Jules | last6=Groeneveld | first6=Geert Jan | last7=Birkhoff | first7=Willem | last8=Mercuri | first8=Eugenio | last9=Lochmüller | first9=Hanns | last10=Wood | first10=Claire | last11=Fischer | first11=Dirk | last12=Gerlach | first12=Irene | last13=Heinig | first13=Katja | last14=Bugawan | first14=Teodorica | last15=Dziadek | first15=Sebastian | last16=Kinch | first16=Russell | last17=Czech | first17=Christian | last18=Khwaja | first18=Omar | title=The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy | journal=Neuromuscular Disorders | publisher=Elsevier BV | volume=29 | issue=1 | year=2019 | issn=0960-8966 | doi=10.1016/j.nmd.2018.10.001 | pages=21–29| pmid=30553700 | s2cid=54315649 }}</ref> Early leads also included [[sodium orthovanadate]]<ref>{{cite journal | vauthors = Zhang ML, Lorson CL, Androphy EJ, Zhou J | title = An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA | journal = Gene Therapy | volume = 8 | issue = 20 | pages = 1532–8 | date = October 2001 | pmid = 11704813 | doi = 10.1038/sj.gt.3301550 | doi-access = | s2cid = 29685631 }}</ref> and [[aclarubicin]].<ref>{{cite journal | vauthors = Andreassi C, Jarecki J, Zhou J, Coovert DD, Monani UR, Chen X, Whitney M, Pollok B, Zhang M, Androphy E, Burghes AH | title = Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients | journal = Human Molecular Genetics | volume = 10 | issue = 24 | pages = 2841–9 | date = November 2001 | pmid = 11734549 | doi = 10.1093/hmg/10.24.2841 | doi-access = free }}</ref>
[[Morpholino]]-type antisense oligonucleotides, with the same cellular target as nusinersen, remain a subject of research in treating SMA and other single-gene diseases, including at the [[University College London]]<ref>{{cite journal | vauthors = Zhou H, Meng J, Marrosu E, Janghra N, Morgan J, Muntoni F | title = Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response | journal = Human Molecular Genetics | volume = 24 | issue = 22 | pages = 6265–77 | date = November 2015 | pmid = 26264577 | pmc = 4614699 | doi = 10.1093/hmg/ddv329 }}</ref> and at the [[University of Oxford]].<ref>{{cite journal | vauthors = Hammond SM, Hazell G, Shabanpoor F, Saleh AF, Bowerman M, Sleigh JN, Meijboom KE, Zhou H, Muntoni F, Talbot K, Gait MJ, Wood MJ | title = Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 113 | issue = 39 | pages = 10962–7 | date = September 2016 | pmid = 27621445 | pmc = 5047168 | doi = 10.1073/pnas.1605731113 | bibcode = 2016PNAS..11310962H | doi-access = free }}</ref>
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Of clinically studied compounds which did not show efficacy, [[thyrotropin-releasing hormone]] (TRH) held some promise in an [[open-label trial|open-label]] [[uncontrolled trial|uncontrolled]] clinical trial<ref>{{cite journal | vauthors = Takeuchi Y, Miyanomae Y, Komatsu H, Oomizono Y, Nishimura A, Okano S, Nishiki T, Sawada T | title = Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy | journal = Journal of Child Neurology | volume = 9 | issue = 3 | pages = 287–9 | date = July 1994 | pmid = 7930408 | doi = 10.1177/088307389400900313 | s2cid = 41678161 }}</ref><ref>{{cite journal | vauthors = Tzeng AC, Cheng J, Fryczynski H, Niranjan V, Stitik T, Sial A, Takeuchi Y, Foye P, DePrince M, Bach JR | title = A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report | journal = American Journal of Physical Medicine & Rehabilitation | volume = 79 | issue = 5 | pages = 435–40 | year = 2000 | pmid = 10994885 | doi = 10.1097/00002060-200009000-00005 | s2cid = 20416253 }}</ref><ref>{{cite journal | vauthors = Kato Z, Okuda M, Okumura Y, Arai T, Teramoto T, Nishimura M, Kaneko H, Kondo N | title = Oral administration of the thyrotropin-releasing hormone (TRH) analogue, taltireline hydrate, in spinal muscular atrophy | journal = Journal of Child Neurology | volume = 24 | issue = 8 | pages = 1010–2 | date = August 2009 | pmid = 19666885 | doi = 10.1177/0883073809333535 | s2cid = 29321906 }}</ref> but did not prove effective in a subsequent [[double-blind trial|double-blind]] [[placebo-controlled]] trial.<ref>{{cite journal | vauthors = Wadman RI, Bosboom WM, van den Berg LH, Wokke LH, Iannaccone ST, Vrancken AF |editor1-first =Renske I |editor1-last =Wadman |title =Drug treatment for spinal muscular atrophy type I |date=2011-12-07 | collaboration = The Cochrane Collaboration |publisher=John Wiley & Sons, Ltd |doi=10.1002/14651858.cd006281.pub3 |journal =Cochrane Database of Systematic Reviews |issue =12 |pages =CD006281 |pmid =22161399 }}</ref> [[Riluzole]], a drug that offers limited clinical benefit in [[amyotrophic lateral sclerosis]], was proposed to be similarly tested in SMA;<ref>{{cite journal | vauthors = Haddad H, Cifuentes-Diaz C, Miroglio A, Roblot N, Joshi V, Melki J | title = Riluzole attenuates spinal muscular atrophy disease progression in a mouse model | journal = Muscle & Nerve | volume = 28 | issue = 4 | pages = 432–7 | date = October 2003 | pmid = 14506714 | doi = 10.1002/mus.10455 | s2cid = 10300057 }}</ref><ref>{{cite journal | vauthors = Dimitriadi M, Kye MJ, Kalloo G, Yersak JM, Sahin M, Hart AC | title = The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models | journal = The Journal of Neuroscience | volume = 33 | issue = 15 | pages = 6557–62 | date = April 2013 | pmid = 23575853 | pmc = 3652322 | doi = 10.1523/JNEUROSCI.1536-12.2013 }}</ref> however, a 2008–2010 trial in SMA types 2 and 3<ref>{{ClinicalTrialsGov|NCT00774423|Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA)}}</ref> was stopped early due to the lack of satisfactory results.<ref>{{cite web | url=http://amyotrophies-spinales.blogs.afm-telethon.fr/archives/category/c_-_la_recherche/index-7.html | title=Riluzole: premiers résultats décevants | publisher=AFM Téléthon | date=2010-09-22 | language=fr | access-date=16 March 2017 | archive-date=8 December 2017 | archive-url=https://web.archive.org/web/20171208174814/http://amyotrophies-spinales.blogs.afm-telethon.fr/archives/category/c_-_la_recherche/index-7.html | url-status=dead }}</ref> Other compounds that displayed some neuroprotective effect in ''in vitro'' research but never moved on to ''in vivo'' studies include [[β-lactam antibiotic]]s (e.g., [[ceftriaxone]])<ref>{{cite journal | vauthors = Nizzardo M, Nardini M, Ronchi D, Salani S, Donadoni C, Fortunato F, Colciago G, Falcone M, Simone C, Riboldi G, Govoni A, Bresolin N, Comi GP, Corti S | title = Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms | journal = Experimental Neurology | volume = 229 | issue = 2 | pages = 214–25 | date = June 2011 | pmid = 21295027 | doi = 10.1016/j.expneurol.2011.01.017 | hdl = 2434/425410 | s2cid = 47567316 | url = https://air.unimi.it/bitstream/2434/425410/2/Bhatia_Annals_BetaLactim_2011.pdf | hdl-access = free }}</ref><ref>{{cite journal | vauthors = Hedlund E | title = The protective effects of β-lactam antibiotics in motor neuron disorders | journal = Experimental Neurology | volume = 231 | issue = 1 | pages = 14–8 | date = September 2011 | pmid = 21693120 | doi = 10.1016/j.expneurol.2011.06.002 | s2cid = 26353910 }}</ref> and [[follistatin]].<ref>{{cite journal | vauthors = Rose FF, Mattis VB, Rindt H, Lorson CL | title = Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy | journal = Human Molecular Genetics | volume = 18 | issue = 6 | pages = 997–1005 | date = March 2009 | pmid = 19074460 | pmc = 2649020 | doi = 10.1093/hmg/ddn426 }}</ref>
[[]]=== Muscle restoration ===
This approach aims to counter the effect of SMA by targeting the muscle tissue instead of neurons.
* [[Reldesemtiv]] (CK-2127107, CK-107) is a skeletal [[troponin]] activator developed by Cytokinetics in cooperation with [[Astellas]]. The drug aims at increasing muscle reactivity despite lowered neural signalling. The molecule showed some success in phase II clinical trial in adolescent and adults with SMA types 2, 3, and 4.<ref>{{cite web | url=http://cytokinetics.com/ck-2127107|title=CK-2127107 }}</ref>
* [[Apitegromab]] (SRK-015) is [[monoclonal antibody]] that blocks the activation of the skeletal muscle protein [[myostatin]], thereby promoting muscle tissue growth. As of 2021, the molecule showed success as an experimental add-on treatment in paediatric and adult patients treated with nusinersen.<ref>{{Cite web|date=2021-04-06|title=Scholar Rock Announces Positive 12-Month Top-Line Results From the TOPAZ Phase 2 Clinical Trial Evaluating Apitegromab in Patients With Type 2 and Type 3 Spinal Muscular Atrophy (SMA)|url=https://www.businesswire.com/news/home/20210406005338/en/Scholar-Rock-Announces-Positive-12-Month-Top-Line-Results-From-the-TOPAZ-Phase-2-Clinical-Trial-Evaluating-Apitegromab-in-Patients-With-Type-2-and-Type-3-Spinal-Muscular-Atrophy-SMA|access-date=2021-05-13|website=www.businesswire.com|language=en}}</ref>
* GYM329 (RO7204239), developed by Hoffman-La Roche, works similarly to apitegromab by blocking myostatin activation. As of 2022, it is undergoing clinical development in non-ambulant children with SMA aged 2–10, combined with risdiplam.<ref>{{Cite web|last=PhD|first=Patricia Inacio|title=Pediatric Phase 2/3 Trial to Test Anti-myostatin Antibody with Evrysdi|date=25 October 2021 |url=https://smanewstoday.com/news-posts/2021/10/25/pediatric-phase-2-3-trial-test-anti-myostatin-antibody-gym329-with-evrysdi/|access-date=2022-01-23|language=en-US}}</ref>
===Stem cells===
Whilst stem cells never form a part of any recognised therapy for SMA, a number of private companies, usually located in countries with lax regulatory oversight, take advantage of [[media hype]] and market stem cell injections as a "cure" for a vast range of disorders, including SMA. The medical consensus is that such procedures offer no clinical benefit whilst carrying significant risk, therefore people with SMA are advised against them.<ref>{{cite journal | author = Committee for Advanced Therapies and CAT Scientific Secretariat | title = Use of unregulated stem-cell based medicinal products | journal = Lancet | volume = 376 | issue = 9740 | pages = 514 | date = August 2010 | pmid = 20709228 | doi = 10.1016/S0140-6736(10)61249-4 | s2cid = 6906599 }}</ref><ref>{{cite web | url=http://www.ema.europa.eu/docs/en_GB/document_library/Public_statement/2010/04/WC500089472.pdf | title=Concerns over unregulated medicinal products containing stem cells | author=European Medicines Agency | publisher=[[European Medicines Agency]] | date=16 April 2010 | author-link=European Medicines Agency | access-date=29 June 2016 | archive-date=10 May 2017 | archive-url=https://web.archive.org/web/20170510173936/http://www.ema.europa.eu/docs/en_GB/document_library/Public_statement/2010/04/WC500089472.pdf | url-status=dead }}</ref> In 2013–2014, a small number of SMA1 children in Italy received court-mandated stem cell injections following the [[Stamina scam]], but the treatment was reported having no effect<ref>{{cite journal|vauthors=Carrozzi M, Amaddeo A, Biondi A, Zanus C, Monti F, Alessandro V|date=November 2012|title=Stem cells in severe infantile spinal muscular atrophy (SMA1)|journal=Neuromuscular Disorders|volume=22|issue=11|pages=1032–4|doi=10.1016/j.nmd.2012.09.005|pmid=23046997|s2cid=42093152}}</ref><ref>{{cite journal|vauthors=Mercuri E, Bertini E|date=December 2012|title=Stem cells in severe infantile spinal muscular atrophy|journal=Neuromuscular Disorders|volume=22|issue=12|pages=1105|doi=10.1016/j.nmd.2012.11.001|pmid=23206850|s2cid=43858783}}</ref>
=== Registries ===
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== See also ==
* [[Motor neuron disease]]
* [[Distal spinal muscular atrophy type 1]]
* [[Distal spinal muscular atrophy type 2]]
== References ==
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[[Category:Nucleus diseases]]
[[Category:Systemic atrophies primarily affecting the central nervous system]]
[[Category:Neuromuscular disorders]]
[[Category:Wikipedia medicine articles ready to translate]]
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