{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:43:11Z","timestamp":1760143391736,"version":"build-2065373602"},"reference-count":53,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T00:00:00Z","timestamp":1706832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.<\/jats:p>","DOI":"10.3390\/biology13020093","type":"journal-article","created":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T09:42:32Z","timestamp":1706866952000},"page":"93","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2179-3199","authenticated-orcid":false,"given":"Laynie","family":"Dratch","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1932-1563","authenticated-orcid":false,"given":"Tanya M.","family":"Bardakjian","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Sarepta Therapeutics Inc., Cambridge, MA 02142, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelsey","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nareen","family":"Babaian","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Gonzalez-Alegre","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Spark Therapeutics, Inc., Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Elman","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin","family":"Quinn","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael H.","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3900-2367","authenticated-orcid":false,"given":"Steven S.","family":"Scherer","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6202-3900","authenticated-orcid":false,"given":"Defne A.","family":"Amado","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e212","DOI":"10.1212\/NXG.0000000000000212","article-title":"Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders","volume":"4","author":"Haskell","year":"2018","journal-title":"Neurol. 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