{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:19:38Z","timestamp":1760145578534,"version":"build-2065373602"},"reference-count":109,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health\u2013Ricerca Corrente"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Myotonic dystrophy type 1 (DM1) is a rare multisystemic genetic disorder with motor hallmarks of myotonia, muscle weakness and wasting. DM1 patients have an increased risk of falling of multifactorial origin, and proprioceptive and vestibular deficits can contribute to this risk. Abnormalities of muscle spindles in DM1 have been known for years. This observational cross-sectional study was based on the hypothesis of impaired cervical proprioception caused by alterations in the neck spindles. Methods: Head position sense was measured in 16 DM1 patients and 16 age- and gender-matched controls. A head-to-target repositioning test was requested from blindfolded participants. Their head was passively rotated approximately 30\u00b0 leftward or rightward and flexed or extended approximately 25\u00b0. Participants had to replicate the imposed positions. An optoelectronic system was adopted to measure the angular differences between the reproduced and the imposed positions (joint position error, JPE, \u00b0) concerning the intended (sagittal, horizontal) and unintended (including the frontal) planar projections. In DM1 patients, JPEs were correlated with clinical and balance measures. Static balance in DM1 patients was assessed through dynamic posturography. Results: The accuracy and precision of head repositioning in the intended sagittal and horizontal error components did not differ between DM1 and controls. On the contrary, DM1 patients showed unintended side-bending to the left and the right: the mean [95%CI] of frontal JPE was \u22121.29\u00b0 [\u22121.99\u00b0, \u22120.60\u00b0] for left rotation and 0.98\u00b0 [0.28\u00b0, 1.67\u00b0] for right rotation. The frontal JPE of controls did not differ significantly from 0\u00b0 (left rotation: 0.17\u00b0 [\u22120.53\u00b0, 0.87\u00b0]; right rotation: \u22120.22\u00b0 [\u22120.91\u00b0, 0.48\u00b0]). Frontal JPE differed between left and right rotation trials (p &lt; 0.001) only in DM1 patients. No correlation was found between JPEs and measures from dynamic posturography and clinical scales. Conclusions: Lateral head bending associated with head rotation may reflect a latent impairment of neck proprioception in DM1 patients.<\/jats:p>","DOI":"10.3390\/jcm13164685","type":"journal-article","created":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T06:25:24Z","timestamp":1723271124000},"page":"4685","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["In Myotonic Dystrophy Type 1 Head Repositioning Errors Suggest Impaired Cervical Proprioception"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9217-4117","authenticated-orcid":false,"given":"Stefano","family":"Scarano","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, 20133 Milan, Italy"},{"name":"IRCCS Istituto Auxologico Italiano, Department of Neurorehabilitation Sciences, Ospedale San Luca, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-1031","authenticated-orcid":false,"given":"Antonio","family":"Caronni","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, 20133 Milan, Italy"},{"name":"IRCCS Istituto Auxologico Italiano, Department of Neurorehabilitation Sciences, Ospedale San Luca, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Carraro","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carola Rita","family":"Ferrari Aggradi","sequence":"additional","affiliation":[{"name":"The NeMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Rota","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Auxologico Italiano, Department of Neurorehabilitation Sciences, Ospedale San Luca, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Malloggi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Auxologico Italiano, Department of Neurorehabilitation Sciences, Ospedale San Luca, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Tesio","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Auxologico Italiano, Department of Neurorehabilitation Sciences, Ospedale San Luca, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria Ada","family":"Sansone","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences for Health, University of Milan, 20133 Milan, Italy"},{"name":"The NeMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, 20162 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1034\/j.1399-0004.2001.590508.x","article-title":"Epidemiology of myotonic dystrophy in Italy: Re-apprisal after genetic diagnosis","volume":"59","author":"Siciliano","year":"2001","journal-title":"Clin. 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