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000269341 0247_ $$2pmc$$apmc:PMC11055798
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000269341 0247_ $$2ISSN$$a0340-5354
000269341 0247_ $$2ISSN$$a1432-1459
000269341 037__ $$aDZNE-2024-00510
000269341 041__ $$aEnglish
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000269341 1001_ $$00000-0003-1925-7538$$aVill, Katharina$$b0
000269341 245__ $$a5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
000269341 260__ $$aHeidelberg$$bSpringer$$c2024
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000269341 520__ $$aNewborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening. Only data prior to initiation of disease-modifying treatment were included. The median age at disease onset was 3.0 years, with a mean of 6.4 years. Significantly, 55% of patients experienced symptoms before the age of 36 months. 3% never learned to sit unaided, a further 13% never gained the ability to walk independently and 33% of ambulatory patients lost this ability during the course of the disease. 43% developed scoliosis, 6.3% required non-invasive ventilation and 1.1% required tube feeding. In conclusion, our study, in line with previous observations, highlights the substantial phenotypic heterogeneity in SMA. Importantly, this study provides novel insights: the median age of disease onset in patients with 4 SMN2 copies typically occurs before school age, and in half of the patients even before the age of three years. These findings support a proactive approach, particularly early treatment initiation, in this subset of SMA patients diagnosed pre-symptomatically. However, it is important to recognize that the register will not include asymptomatic individuals.
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000269341 650_7 $$2Other$$aSMN2
000269341 650_7 $$2Other$$aAge of onset
000269341 650_7 $$2Other$$aMolecular therapies
000269341 650_7 $$2Other$$aNeonatal screening
000269341 650_7 $$2Other$$aPre-symptomatic treatment
000269341 650_7 $$2Other$$aSMA
000269341 650_7 $$2Other$$aSpinal muscular atrophy
000269341 650_7 $$2NLM Chemicals$$aSurvival of Motor Neuron 2 Protein
000269341 650_7 $$2NLM Chemicals$$aSMN2 protein, human
000269341 650_2 $$2MeSH$$aHumans
000269341 650_2 $$2MeSH$$aRetrospective Studies
000269341 650_2 $$2MeSH$$aMale
000269341 650_2 $$2MeSH$$aFemale
000269341 650_2 $$2MeSH$$aSurvival of Motor Neuron 2 Protein: genetics
000269341 650_2 $$2MeSH$$aChild, Preschool
000269341 650_2 $$2MeSH$$aChild
000269341 650_2 $$2MeSH$$aMuscular Atrophy, Spinal: genetics
000269341 650_2 $$2MeSH$$aMuscular Atrophy, Spinal: diagnosis
000269341 650_2 $$2MeSH$$aInfant
000269341 650_2 $$2MeSH$$aAdolescent
000269341 650_2 $$2MeSH$$aDisease Progression
000269341 650_2 $$2MeSH$$aAge of Onset
000269341 650_2 $$2MeSH$$aRegistries
000269341 650_2 $$2MeSH$$aGermany
000269341 650_2 $$2MeSH$$aSwitzerland
000269341 650_2 $$2MeSH$$aAustria: epidemiology
000269341 650_2 $$2MeSH$$aYoung Adult
000269341 650_2 $$2MeSH$$aNeonatal Screening
000269341 650_2 $$2MeSH$$aInfant, Newborn
000269341 650_2 $$2MeSH$$aAdult
000269341 7001_ $$aTacke, Moritz$$b1
000269341 7001_ $$aKönig, Anna$$b2
000269341 7001_ $$aBaumann, Matthias$$b3
000269341 7001_ $$aBaumgartner, Manuela$$b4
000269341 7001_ $$aSteinbach, Meike$$b5
000269341 7001_ $$aBernert, Guenther$$b6
000269341 7001_ $$aBlaschek, Astrid$$b7
000269341 7001_ $$aDeschauer, Marcus$$b8
000269341 7001_ $$aFlotats-Bastardas, Marina$$b9
000269341 7001_ $$aFriese, Johannes$$b10
000269341 7001_ $$aGoldbach, Susanne$$b11
000269341 7001_ $$aGross, Martin$$b12
000269341 7001_ $$0P:(DE-2719)2811849$$aGünther, René$$b13$$udzne
000269341 7001_ $$aHahn, Andreas$$b14
000269341 7001_ $$aHagenacker, Tim$$b15
000269341 7001_ $$aHauser, Erwin$$b16
000269341 7001_ $$aHorber, Veronka$$b17
000269341 7001_ $$aIllsinger, Sabine$$b18
000269341 7001_ $$aJohannsen, Jessika$$b19
000269341 7001_ $$0P:(DE-2719)9000871$$aKamm, Christoph$$b20
000269341 7001_ $$aKoch, Jan C$$b21
000269341 7001_ $$aKoelbel, Heike$$b22
000269341 7001_ $$aKoehler, Cornelia$$b23
000269341 7001_ $$aKolzter, Kirsten$$b24
000269341 7001_ $$aLochmüller, Hanns$$b25
000269341 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert$$b26$$udzne
000269341 7001_ $$aMensch, Alexander$$b27
000269341 7001_ $$aMeyer Zu Hoerste, Gerd$$b28
000269341 7001_ $$0P:(DE-HGF)0$$aMueller, Monika$$b29
000269341 7001_ $$aMueller-Felber, Wolfgang$$b30
000269341 7001_ $$aNeuwirth, Christoph$$b31
000269341 7001_ $$aPetri, Susanne$$b32
000269341 7001_ $$aProbst-Schendzielorz, Kristina$$b33
000269341 7001_ $$aPühringer, Manuel$$b34
000269341 7001_ $$aSteinbach, Robert$$b35
000269341 7001_ $$aSchara-Schmidt, Ulrike$$b36
000269341 7001_ $$aSchimmel, Mareike$$b37
000269341 7001_ $$aSchrank, Bertold$$b38
000269341 7001_ $$aSchwartz, Oliver$$b39
000269341 7001_ $$aSchlachter, Kurt$$b40
000269341 7001_ $$aSchwerin-Nagel, Annette$$b41
000269341 7001_ $$aSchreiber, Gudrun$$b42
000269341 7001_ $$aSmitka, Martin$$b43
000269341 7001_ $$aTopakian, Raffi$$b44
000269341 7001_ $$aTrollmann, Regina$$b45
000269341 7001_ $$aTuerk, Matthias$$b46
000269341 7001_ $$aTheophil, Manuela$$b47
000269341 7001_ $$aRauscher, Christian$$b48
000269341 7001_ $$aVorgerd, Mathias$$b49
000269341 7001_ $$aWalter, Maggie C$$b50
000269341 7001_ $$aWeiler, Markus$$b51
000269341 7001_ $$aWeiss, Claudia$$b52
000269341 7001_ $$aWilichowski, Ekkehard$$b53
000269341 7001_ $$0P:(DE-2719)9002006$$aWurster, Claudia$$b54$$udzne
000269341 7001_ $$0P:(DE-HGF)0$$aWunderlich, Gilbert$$b55
000269341 7001_ $$aZeller, Daniel$$b56
000269341 7001_ $$aZiegler, Andreas$$b57
000269341 7001_ $$aKirschner, Janbernd$$b58
000269341 7001_ $$aPechmann, Astrid$$b59
000269341 7001_ $$agroup, SMArtCARE study$$b60$$eCollaboration Author
000269341 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-024-12188-5$$gVol. 271, no. 5, p. 2787 - 2797$$n5$$p2787 - 2797$$tJournal of neurology$$v271$$x0367-004X$$y2024
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