{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T05:54:08Z","timestamp":1673416448370},"reference-count":26,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Neurol"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The diagnosis of neuromuscular disorders requires a thorough history including family history and examination, with the next steps broadened now beyond electromyography and neuropathology to include genetic testing. The challenge in diagnosis can often be putting all the information together. With advances in genetic testing, some diagnoses that adult patients may have received as children deserve a second look and may result in diagnoses better defined or alternative diagnoses made. Clearly defining or redefining a diagnosis can result in understanding of potential other systems involved, prognosis, or potential treatments. This article presents several cases and approach to diagnosis as well as potential treatment and prognostic concerns, including seipinopathy, congenital myasthenic syndrome, central core myopathy, and myotonic dystrophy type 2.<\/jats:p>","DOI":"10.1055\/a-1985-0230","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T00:13:37Z","timestamp":1669248817000},"page":"716-722","source":"Crossref","is-referenced-by-count":0,"title":["Challenging Neuromuscular Disease Cases"],"prefix":"10.1055","volume":"42","author":[{"given":"Cynthia","family":"Bodkin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Comer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia","family":"Felker","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurie","family":"Gutmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karra A.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pathology, Duke University Medical Center, Durham, North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Kincaid","sequence":"additional","affiliation":[{"name":"Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katelyn K.","family":"Payne","sequence":"additional","affiliation":[{"name":"Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"},{"name":"Department of Medical Genetics and Genomics, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blair","family":"Skinner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,12,29]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awn216","article-title":"Seipinopathy: a novel endoplasmic reticulum stress-associated disease","volume":"132","author":"D Ito","year":"2009","journal-title":"Brain"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1093\/brain\/awz382","article-title":"Lipid metabolic pathways converge in motor neuron degenerative diseases","volume":"143","author":"O J Rickman","year":"2020","journal-title":"Brain"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"650186","DOI":"10.3389\/fcell.2021.650186","article-title":"A unique junctional interface at contact sites between the endoplasmic reticulum and lipid droplets","volume":"9","author":"V Choudhary","year":"2021","journal-title":"Front Cell Dev Biol"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome","volume":"36","author":"C Windpassinger","year":"2004","journal-title":"Nat Genet"},{"issue":"03","key":"ref6","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ana.20410","article-title":"Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation","volume":"57","author":"M Auer-Grumbach","year":"2005","journal-title":"Ann Neurol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1093\/brain\/awh232","article-title":"The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V","volume":"127","author":"J Irobi","year":"2004","journal-title":"Brain"},{"issue":"02","key":"ref8","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","article-title":"An undiagnosed endocrinometabolic syndrome: report of 2 cases","volume":"14","author":"W Berardinelli","year":"1954","journal-title":"J Clin Endocrinol Metab"},{"key":"ref9","first-page":"555","article-title":"Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?","volume":"48","author":"M Seip","year":"1959","journal-title":"Acta Paediatr (Stockh)"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"e412","DOI":"10.1212\/NXG.0000000000000412","article-title":"Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders","volume":"6","author":"T L Winder","year":"2020","journal-title":"Neurol Genet"},{"key":"ref11","first-page":"1502","volume-title":"Congenital myopathies","author":"K North","year":"2004"},{"issue":"02","key":"ref12","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0303-8467(00)00066-4","article-title":"Congenital fibre type disproportion a time-locked diagnosis: a clinical and morphological follow-up study","volume":"102","author":"M G Bartholomeus","year":"2000","journal-title":"Clin Neurol Neurosurg"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1093\/brain\/awh511","article-title":"Autosomal dominant 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