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DCMA or 3\u2010methylglutaconic aciduria type V is globally rare, but the largest number of patients in the world is found in the Hutterite population of southern Alberta in Canada. We provide an update on phenotypic findings, natural history, pathological findings, and our clinical experience. We analyzed all available records for 43 patients diagnosed with DCMA between 2005 and 2015 at the Alberta Children's Hospital. All patients studied were Hutterite and homozygous for the causative <jats:italic>DNAJC19<\/jats:italic> variant (c.130\u20101G&gt;C, IVS3\u20101G&gt;C) and had elevated levels of 3\u2010methyglutaconic acid. We calculated a birth prevalence of 1.54 cases per 1000 total births in the Hutterite community. Children were small for gestational age at birth and frequently required supplemental nutrition (63%) or surgical placement of a gastrostomy tube (35%). Early mortality in this cohort was high (40%) at a median age of 13\u2009months (range 4\u2010294\u2009months). Congenital anomalies were common as was dilated cardiomyopathy (50%), QT interval prolongation (83%), and developmental delay (95%). Tissue pathology was analyzed in a limited number of patients and demonstrated subendocardial fibrosis in the heart, macrovesicular steatosis and fibrosis in the liver, and structural abnormalities in mitochondria. This report provides clinical details for a cohort of children with DCMA and the first presentation of tissue pathology for this disorder. Despite sharing common genetic etiology and environment, the disease is highly heterogeneous for reasons that are not understood. DCMA is a clinically heterogeneous systemic mitochondrial disease with significant morbidity and mortality that is common in the Hutterite population of southern Alberta.<\/jats:p>","DOI":"10.1002\/jimd.12441","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T05:53:44Z","timestamp":1632808424000},"page":"366-376","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children"],"prefix":"10.1002","volume":"45","author":[{"given":"Pranav","family":"Machiraju","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Department of Cardiac Sciences and Libin Cardiovascular Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vlad","family":"Degtiarev","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Department of Cardiac Sciences and Libin Cardiovascular Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhwani","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Hazari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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