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Long considered incurable, the first disease-modifying treatments are currently being evaluated in clinical trials. However, frequent misdiagnosis or delayed recognition are common, hindering timely treatment necessary to prevent permanent disability. In this study, we conducted a survey among patients from our CMT clinic and the German patient advocate group to capture patients\u2019 perspective on the diagnostic journey and to explore solutions for earlier diagnosis and improved access to specialized care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>270 CMT patients participated in the survey. The average time between symptom onset and first physician contact was 5.2 years with a symptom to diagnosis time of 13.7 years. Patients who were first seen by an orthopedic specialist had a longer diagnostic delay compared to those seen by a neurologist or geneticist. Diagnostic hospitalizations occurred in 46% of cases. More than half of the patients were initially misdiagnosed, which prolonged the diagnostic journey and impaired the patients\u2019 general health.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our study highlights that patients with CMT in Germany regularly face a prolonged diagnostic odyssey before receiving a correct diagnosis. Lengthy diagnostic pathways involving frequent doctor visits and hospital stays, as well as misdiagnosis, lead to inappropriate treatment, and high emotional and economic burden. Late diagnosis may limit the effectiveness of upcoming therapies that rely on early treatment initiation. New strategies need to be defined to decrease the costs for both patients and healthcare systems and prepare for upcoming therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04236-2","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T09:34:50Z","timestamp":1770111290000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Patient journey with Charcot-Marie-Tooth Disease \u2013 A German patient survey study"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8711-5526","authenticated-orcid":false,"given":"Helena F.","family":"Pernice","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"May","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"M\u00fchlensiepen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Spethmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricarda","family":"Kneitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Mossakowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,3]]},"reference":[{"key":"4236_CR1","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1097\/WCO.0000000000000735","volume":"32","author":"M Laur\u00e1","year":"2019","unstructured":"Laur\u00e1 M, Pipis M, Rossor AM, Reilly MM. 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The institutional review board of the Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin approved the study (EA2\/169\/22). Every human provided informed consent for participation.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors and participating patients gave their consent for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"HFP has received personal funding by Deutsche Gesellschaft f\u00fcr Muskelkranke (DGM) GmbH and Berlin Institute of Health (BIH) as well as has received personal funding, travel support, and speaker fees by Alnylam Pharmaceuticals Inc., Bayer, and AstraZeneca unrelated to this project. SM received research funding, financial reimbursement for consulting, advisory board activities, speaker fees and\/or contributions to congresses by AbbVie, AstraZeneca, Novartis unrelated to this project. FM received research funding, financial reimbursement for consulting, advisory board activities, speaker fees and\/or contributions to congresses by AbbVie, AstraZeneca, Novartis unrelated to this project. AM received research funding by the foundation Charit\u00e9 (BIH clinican scientist program). RK declares no competing interests. KH received financial reimbursement for consulting, advisory board activities, speaker fees and\/or contributions to congresses and travel support to attend scientific meetings by Akcea Therapeuticals Inc., Alnylam Pharmaceuticals Inc., Amicus, AstraZeneca, Bayer, BridgeBio, GSK, Hormosan, Takeda Pharmaceutical Inc., Pfizer Pharmaceuticals Inc., Purpose Pharma and Swedish Orphan Biovitrum Inc and ViiV Healthcare GmbH. KH further received research funding by the foundation Charit\u00e9 (BIH clinical fellow, BIH digital accelerator), Alnylam Pharmaceuticals Inc., and Pfizer Pharmaceuticals.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"84"}}