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All cases had a phenotype atypical for their primary diagnosis, leading to the search for a second genetic diagnosis. These cases highlight the importance of the history, physical examination and continued work\u2010up if the phenotype of the patient falls drastically outside what has been reported with their primary diagnosis. Some of the diagnoses of the patients presented here (e.g., Myotonic Dystrophy Type 1, fascioscapulohumeral muscular dystrophy) would not have been identified by genetic testing done on a next generation sequencing backbone (e.g., panel or exome sequencing). When the clinical picture is atypical or more severe than expected the possibility of a dual diagnosis (double trouble) should be considered. Identification of a second genetic condition can impact management and genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.62034","type":"journal-article","created":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T09:51:37Z","timestamp":1608889897000},"page":"766-773","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Dual molecular diagnoses in a neurometabolic specialty clinic"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6829-6205","authenticated-orcid":false,"given":"Fady","family":"Hannah\u2010Shmouni","sequence":"first","affiliation":[{"name":"Section on Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashid","family":"Al\u2010Shahoumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren I.","family":"Brady","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Frei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0312-3746","authenticated-orcid":false,"given":"Mark A.","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.015"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12987"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7896-z"},{"key":"e_1_2_9_5_1","volume-title":"GeneReviews((R))","author":"Bird T. 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