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This systematic literature review aimed to explore the effect of MLD on the lives of patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The Ovid platform was used to search Embase, MEDLINE, and the Cochrane Library for articles related to the natural history, clinical outcomes, and burden of illness of MLD; congress and hand searches were performed using \u2018metachromatic leukodystrophy\u2019 as a keyword. Of the 531 publications identified, 120 were included for data extraction following screening. A subset of findings from studies relating to MLD natural history and burden of illness (<jats:italic>n<\/jats:italic>\u2009=\u2009108) are presented here.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The mean age at symptom onset was generally 16\u201318\u00a0months for late-infantile MLD and 6\u201310\u00a0years for juvenile MLD. Age at diagnosis and time to diagnosis varied widely. Typically, patients with late-infantile MLD presented predominantly with motor symptoms and developmental delay; patients with juvenile MLD presented with motor, cognitive, and behavioral symptoms; and patients with adult MLD presented with cognitive symptoms and psychiatric and mood disorders. Patients with late-infantile MLD had more rapid decline of motor function over time and lower survival than patients with juvenile MLD. Commonly reported comorbidities\/complications included ataxia, epilepsy, gallbladder abnormalities, incontinence, neuropathy, and seizures.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Epidemiology of MLD by geographic regions, quantitative cognitive data, data on the differences between early- and late-juvenile MLD, and humanistic or economic outcomes were limited. Further studies on clinical, humanistic (i.e., quality of life), and economic outcomes are needed to help inform healthcare decisions for patients with MLD.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40001-024-01771-1","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T04:22:24Z","timestamp":1710735744000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review"],"prefix":"10.1186","volume":"29","author":[{"given":"Shun-Chiao","family":"Chang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian Stefan","family":"Eichinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polly","family":"Field","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"1771_CR1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2020.576221","volume":"7","author":"AA Shaimardanova","year":"2020","unstructured":"Shaimardanova AA, Chulpanova DS, Solovyeva VV, Mullagulova AI, Kitaeva KV, Allegrucci C, et al. 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