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The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype\/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA\u2010approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype\u2013phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies.<\/jats:p>","DOI":"10.1002\/jgc4.1892","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T07:29:56Z","timestamp":1714375796000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Genetic counseling for the dystrophinopathies\u2014Practice resource of the National Society of Genetic Counselors"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-3105-3372","authenticated-orcid":false,"given":"Angela M.","family":"Pickart","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann S.","family":"Martin","sequence":"additional","affiliation":[{"name":"Parent Project Muscular Dystrophy  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brianna N.","family":"Gross","sequence":"additional","affiliation":[{"name":"Department of Neurology The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Dellefave\u2010Castillo","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Feinberg School of Medicine Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie M.","family":"McCallen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado School of Medicine, Children's Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chinmayee B.","family":"Nagaraj","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa L.","family":"Rippert","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine P.","family":"Schultz","sequence":"additional","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Ulm","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Parent Project Muscular Dystrophy  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"e_1_2_19_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20918"},{"key":"e_1_2_19_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.10.043"},{"key":"e_1_2_19_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"key":"e_1_2_19_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012\u20103680"},{"key":"e_1_2_19_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005\u20102448"},{"key":"e_1_2_19_7_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND\u2010200555"},{"key":"e_1_2_19_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018\u20100333J"},{"key":"e_1_2_19_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22005"},{"key":"e_1_2_19_10_1","unstructured":"Armstrong N. 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