{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:11:21Z","timestamp":1792033881271,"version":"4.4.0"},"reference-count":19,"publisher":"BMJ","issue":"6","funder":[{"name":"Richdale Charitable Trust."},{"name":"Neuromuscular Research Foundation Trust"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2019,5,16]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>This population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Point-prevalence epidemiological study in the Auckland Region of New Zealand (NZ).<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Multiple case ascertainment sources including primary care centres, hospital services, neuromuscular disease registry, community-based organisations and self-referral were used to identify potentially eligible participants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants<\/jats:title><jats:p>Adults (\u226516\u2009years, n=207, 87.7%) and children (&lt;16\u2009years, n=29, 12.3%) with a confirmed clinical or molecular diagnosis of CMT, hereditary sensory neuropathy, hereditary motor neuropathy or hereditary neuropathy with liability to pressure palsies who resided in the Auckland Region of NZ on 1 June 2016.<\/jats:p><\/jats:sec><jats:sec><jats:title>Primary outcome<\/jats:title><jats:p>Prevalence per 100\u2009000 persons with 95% CIs by subtype, age and sex were calculated and standardised to the world population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Age-standardised point prevalence of all CMT cases was 15.7 per 100\u2009000 (95% CI 11.6 to 21.0). Highest prevalence was identified in those aged 50\u201364\u2009years 25.2 per 100\u2009000 (95% CI 19.4 to 32.6). Males had a higher prevalence (16.6 per 100 000, 95%\u2009CI 10.9 to 25.2) than females (14.6 per 100 000, 95%\u2009CI 9.6 to 22.4). Prevalence of CMT1A was 6.9 per 100\u2009000 (95% CI 5.6 to 8.4). The majority (93.2%) of cases were identified through medical records, with 6.8% of cases uniquely identified through community sources.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A small but significant proportion of people with CMT are not connected to healthcare services. Epidemiological studies using medical records alone to identify cases may risk underestimating prevalence. Further studies using population-based methods and reporting age-standardised prevalence are needed to improve global understanding of the epidemiology of CMT.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bmjopen-2019-029240","type":"journal-article","created":{"date-parts":[[2019,6,15]],"date-time":"2019-06-15T10:05:45Z","timestamp":1560593145000},"page":"e029240","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":38,"title":["Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study"],"prefix":"10.1136","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0351-6216","authenticated-orcid":false,"given":"Alice","family":"Theadom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Roxburgh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"MacAulay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"O\u2019Grady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Burns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Parmar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5692-653X","authenticated-orcid":false,"given":"Kelly","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,6,14]]},"reference":[{"key":"2024052013284536000_9.6.e029240.1","first-page":"235","article-title":"The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management","volume":"8","author":"Hoyle","year":"2015","journal-title":"Appl Clin Genet"},{"key":"2024052013284536000_9.6.e029240.2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23775"},{"key":"2024052013284536000_9.6.e029240.3","doi-asserted-by":"publisher","DOI":"10.3390\/genes5010013"},{"key":"2024052013284536000_9.6.e029240.4","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1159\/000443706","article-title":"Epidemiologic Study of Charcot-Marie-Tooth Disease: a systematic review","volume":"46","author":"Barreto","year":"2016","journal-title":"Neuroepidemiology"},{"key":"2024052013284536000_9.6.e029240.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.015"},{"key":"2024052013284536000_9.6.e029240.6","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809339877"},{"key":"2024052013284536000_9.6.e029240.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03037.x"},{"key":"2024052013284536000_9.6.e029240.8","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1159\/000327029","article-title":"Epidemiology of Charcot-Marie-Tooth disease in the population of Belgrade, Serbia","volume":"36","author":"Mladenovic","year":"2011","journal-title":"Neuroepidemiology"},{"key":"2024052013284536000_9.6.e029240.9","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1212\/WNL.0000000000003504","article-title":"A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland","volume":"88","author":"Lefter","year":"2017","journal-title":"Neurology"},{"key":"2024052013284536000_9.6.e029240.10","unstructured":"Statistics New Zealand 2013 census. 2016 http:\/\/www.stats.govt.nz\/Census\/2013-census.aspx."},{"key":"2024052013284536000_9.6.e029240.11","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1016\/j.jocn.2012.04.008","article-title":"The New Zealand Neuromuscular Disease Registry","volume":"19","author":"Rodrigues","year":"2012","journal-title":"J Clin Neurosci"},{"key":"2024052013284536000_9.6.e029240.12","unstructured":"Ahmad O , Boschi-Pinto C . 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