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Evaluation of longitudinal data could establish clinically relevant endpoints for future research.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data from prospective observational study of 95 definite\/clinically suspected non\u2010dystrophic myotonia participants (six sites in the United States, United Kingdom, and Canada) between March 2006 and March 2009 were analyzed. Outcomes included: standardized symptom interview\/exam, Short Form\u201036, Individualized Neuromuscular Quality of Life (INQoL), electrophysiological short\/prolonged exercise tests, manual muscle testing, quantitative grip strength, modified get\u2010up\u2010and\u2010go test. Patterns were assigned as described by Fournier et al. Comparisons were restricted to confirmed sodium channelopathies (<jats:italic>SCN4A<\/jats:italic>, baseline, year 1, year 2: <jats:italic>n<\/jats:italic>\u00a0=\u00a034, 19, 13), chloride channelopathies (<jats:italic>CLCN1<\/jats:italic>, <jats:italic>n<\/jats:italic>\u00a0=\u00a032, 26, 18), and myotonic dystrophy type 2 (DM2, <jats:italic>n<\/jats:italic>\u00a0=\u00a09, 6, 2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Muscle stiffness was the most frequent symptom over time (54.7%\u201364.7%). Eyelid myotonia and paradoxical handgrip\/eyelid myotonia were more frequent in <jats:italic>SCN4A<\/jats:italic>. Grip strength and combined manual muscle testing remained stable. Modified get\u2010up\u2010and\u2010go showed less warm up in <jats:italic>SCN4A<\/jats:italic> but remained stable. Median post short exercise decrement was stable, except for <jats:italic>SCN4A<\/jats:italic> (baseline to year 2 decrement difference 16.6% [Q1, Q3: 9.5, 39.2]). Fournier patterns type 2 (<jats:italic>CLCN1)<\/jats:italic> and 1 (<jats:italic>SCN4A)<\/jats:italic> were most specific; 40.4% of participants had a change in pattern over time. INQoL showed higher impact for <jats:italic>SCN4A<\/jats:italic> and DM2 with scores stable over time.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Symptom frequency and clinical outcome assessments were stable with defined variability in myotonia measures supporting trial designs like cross over or combined n\u2010of\u20101 as important for rare disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27649","type":"journal-article","created":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T05:33:40Z","timestamp":1653888820000},"page":"148-158","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>Non\u2010dystrophic<\/scp> myotonia: 2\u2010year clinical and patient reported outcomes"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6708-7559","authenticated-orcid":false,"given":"Timothy R.","family":"Fullam","sequence":"first","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"},{"name":"Department of Neurology Brooke Army Medical Center, JBSA\u2010Fort Sam  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2389-5364","authenticated-orcid":false,"given":"Swathy","family":"Chandrashekhar","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine","family":"Farmakidis","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Jawdat","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamatha","family":"Pasnoor","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazen M.","family":"Dimachkie","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0790-5315","authenticated-orcid":false,"given":"Jeffrey M.","family":"Statland","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the CINCH 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