{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:38:23Z","timestamp":1760150303892,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,11,4]],"date-time":"2023-11-04T00:00:00Z","timestamp":1699056000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened, requiring mechanical ventilation, particularly during sleep. Individuals with collagen VI-related myopathy are at risk of restrictive lung disease and sleep-disordered breathing due to the development of scoliosis associated with neuromuscular weakness. Typical signs of respiratory failure are not always present, and some patients are unaware that their respiratory muscles have become weaker. Here, we report a case of an intermediate form of collagen VI-related myopathy confirmed by next-generation sequencing. The girl presented morning headache, irritability, and aggressiveness, and because of these main symptoms, she was referred by the neurologist for respiratory evaluation. The result of spirometry was associated with hypoventilation shown during sleep studies, indicating the necessity to initiate home non-invasive ventilation (NIV) with immediate improvement in the symptoms. Neuromuscular disorders (NMDs) have a great impact on sleep, but only very few studies evaluating sleep quality in young patients with collagen VI-related myopathy have been described. Daytime symptoms of sleep-disordered breathing may include irritability, emotional lability, and poor attentiveness, but these can be overseen by the severity of other complex medical problems in patients with collagen VI-related myopathy. We underline the importance of the close monitoring of respiratory function, sleep evaluation, and decision making to support the NIV treatment of other collagen VI-related myopathy variant-specific patients. Early recognition of sleep disturbances and initiation of respiratory support can preserve or enhance the quality of life for patients and their caregivers. Routine screening for identification of emotional distress should be instituted in the clinical practice using validated psychological measures in a multidisciplinary approach with different intervention strategies for both patient and parent when necessary.<\/jats:p>","DOI":"10.3390\/jpm13111577","type":"journal-article","created":{"date-parts":[[2023,11,4]],"date-time":"2023-11-04T14:51:01Z","timestamp":1699109461000},"page":"1577","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder\u2014Case Report"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9470-8880","authenticated-orcid":false,"given":"Mihaela","family":"Oros","sequence":"first","affiliation":[{"name":"Ponderas Academic Hospital, No. 85A, Nicolae G. Caramfil Street, 014142 Bucharest, Romania"},{"name":"Physiology, Department of Preclinical Sciences, Faculty of Medicine, Titu Maiorescu University, No. 67A, Gheorghe Petrascu Street, 3rd District, 031593 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucica","family":"Baranga","sequence":"additional","affiliation":[{"name":"Ponderas Academic Hospital, No. 85A, Nicolae G. Caramfil Street, 014142 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adelina","family":"Glangher","sequence":"additional","affiliation":[{"name":"Ponderas Academic Hospital, No. 85A, Nicolae G. Caramfil Street, 014142 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moldovan","family":"Adina-Diana","sequence":"additional","affiliation":[{"name":"Physiology, Department of Preclinical Sciences, Faculty of Medicine, Titu Maiorescu University, No. 67A, Gheorghe Petrascu Street, 3rd District, 031593 Bucharest, Romania"},{"name":"Medlife SA, 365 Grivitei Bvd, 010719 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4193-063X","authenticated-orcid":false,"given":"Gheorghita","family":"Jugulete","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, \u201cCarol Davila\u201d, No. 37, Dionisie Lupu Street, 2nd District, 020021 Bucharest, Romania"},{"name":"\u201cMatei Bal\u015f\u201d National Institute for Infectious Diseases, No. 1, Calistrat Grozovici Street, 2nd District, 021105 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4547-3023","authenticated-orcid":false,"given":"Carmen","family":"Pavelescu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, \u201cCarol Davila\u201d, No. 37, Dionisie Lupu Street, 2nd District, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5936-9545","authenticated-orcid":false,"given":"Florin","family":"Mihaltan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, \u201cCarol Davila\u201d, No. 37, Dionisie Lupu Street, 2nd District, 020021 Bucharest, Romania"},{"name":"National Institute of Pneumology Marius Nasta, 050159 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasilica","family":"Plaiasu","sequence":"additional","affiliation":[{"name":"Regional Center of Medical Genetics, INSMC Alessandrescu-Rusescu, 020395 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4883-3920","authenticated-orcid":false,"given":"Dan Cristian","family":"Gheorghe","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, \u201cCarol Davila\u201d, No. 37, Dionisie Lupu Street, 2nd District, 020021 Bucharest, Romania"},{"name":"ENT Department \u201cMS Curie\u201d Hospital Bucharest, \u201cCarol Davila\u201d University of Medicine, 050474 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Di Martino, A., Cescon, M., D\u2019Agostino, C., Schilardi, F., Sabatelli, P., Merlini, L., and Faldini, C. 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