{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:35:54Z","timestamp":1793414154064,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,2]],"date-time":"2018-02-02T00:00:00Z","timestamp":1517529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["WAR08\u201024"],"award-info":[{"award-number":["WAR08\u201024"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Natural history studies in spinal muscular atrophy (<jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>) have primarily focused on infants and children. Natural history studies encompassing all age groups and <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> types are important for the interpretation of treatment effects of recently introduced survival motor neuron gene\u2010augmenting therapies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a cross\u2010sectional study to investigate muscle strength, Hammersmith Functional Motor Scale (Expanded) score and the patterns of muscle weakness in relation to age and <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> type.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 180 patients with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> types 1\u20134 in the age range 1\u201377.5\u00a0years with median disease duration of 18 (range 0\u201365.8)\u00a0years. With the exception of the early phases of disease in which children with <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> types 2 and 3 may achieve new motor skills and show a temporary increase in muscle strength, cross\u2010sectional data suggested that declining muscle strength and loss of motor skills over time are characteristic of all <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> types. Mean loss of strength was at least 1 point on the <jats:styled-content style=\"fixed-case\">Medical Research Council<\/jats:styled-content> score and 0.5 point on the Hammersmith Functional Motor Scale (Expanded) score per year. Trend lines compatible with deterioration of motor function and muscle strength started in childhood and continued into adulthood. The age at loss of specific motor skills was associated with disease severity. Triceps, deltoid, iliopsoas and quadriceps were the weakest muscles in all patients. Hierarchical cluster analysis did not show a segmental distribution of muscle weakness as suggested previously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Progressive muscle weakness and loss of motor function are characteristic of all <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> types and all ages.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13534","type":"journal-article","created":{"date-parts":[[2017,11,30]],"date-time":"2017-11-30T13:43:09Z","timestamp":1512049389000},"page":"512-518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":182,"title":["Muscle strength and motor function throughout life in a cross\u2010sectional cohort of 180 patients with spinal muscular atrophy types 1c\u20134"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0339-5506","authenticated-orcid":false,"given":"R. 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H.","family":"Lemmink","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Centre Groningen Groningen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A. G. C.","family":"Schoenmakers","sequence":"additional","affiliation":[{"name":"Department of Child Development and Exercise Centre University Medical Centre Utrecht Utrecht"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0084-4644","authenticated-orcid":false,"given":"I.","family":"Cuppen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Child Neurology Brain Centre Rudolf Magnus University Medical Centre Utrecht Utrecht University Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5203-9674","authenticated-orcid":false,"given":"L. 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