{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:12:21Z","timestamp":1790615541575,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003719","name":"Cystinosis Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003719","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Nephropathic cystinosis is a lysosomal storage disorder. Patient survival years after renal transplantation has revealed systemic complications including distal myopathy and dysphagia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated 20 adult patients with nephropathic cystinosis using patient\u2010reported and clinical outcome measures. Standard motor measures, video fluoroscopy swallow studies, and tests of respiratory function were performed. We also used Rasch analysis of an initial survey to design a 16\u2010item survey focused on upper and lower extremity function, which was completed by 31 additional patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Distal myopathy and dysphagia were common in patients with nephropathic cystinosis. Muscle weakness ranges from mild involvement of intrinsic hand muscles to prominent distal greater than proximal weakness and contractures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In addition to further characterization of underlying dysphagia and muscle weakness, we propose a new psychometrically devised, disease specific, functional outcome measures for distal myopathy in patients with nephropathic cystinosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26726","type":"journal-article","created":{"date-parts":[[2019,10,7]],"date-time":"2019-10-07T06:14:22Z","timestamp":1570428862000},"page":"74-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Clinical myopathy in patients with nephropathic cystinosis"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3829-6030","authenticated-orcid":false,"given":"Reza","family":"Sadjadi","sequence":"first","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Grant","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics and Communicable Diseases University of Michigan School of Medicine Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Doyle","sequence":"additional","affiliation":[{"name":"Department of Social Work, School of Health Sciences Quinnipiac University Hamden Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Hammond","sequence":"additional","affiliation":[{"name":"Cystinosis Adult Care Excellence Initiative Reading Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Duong","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Corre","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"David","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Eichler","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,24]]},"reference":[{"issue":"4","key":"e_1_2_8_2_1","first-page":"254","article-title":"Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis","volume":"13","author":"Ballantyne AO","year":"2000","journal-title":"Neuropsychiatry Neuropsychol Behav Neurol."},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10141"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.165"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7112129"},{"issue":"22","key":"e_1_2_8_6_1","doi-asserted-by":"crossref","first-page":"13185","DOI":"10.1016\/S0021-9258(18)33425-2","article-title":"ATP\u2010dependent lysosomal cystine efflux is defective in cystinosis","volume":"257","author":"Jonas AJ","year":"1982","journal-title":"J Biol Chem."},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198704163161602"},{"key":"e_1_2_8_8_1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0065-3101(24)00302-5","article-title":"Cystinosis coming of age","volume":"33","author":"Gahl WA","year":"1986","journal-title":"Adv Pediatr."},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra020552"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0410240"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(77)90197-8"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108448"},{"key":"e_1_2_8_13_1","first-page":"582","article-title":"Survival time in cystinosis. A collaborative study","volume":"19","author":"Gretz N","year":"1983","journal-title":"Proc Eur Dial Transplant Assoc"},{"issue":"8","key":"e_1_2_8_14_1","doi-asserted-by":"crossref","first-page":"4791","DOI":"10.1016\/S0021-9258(18)89141-4","article-title":"Detection and characterization of carrier\u2010mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?","volume":"260","author":"Pisoni RL","year":"1985","journal-title":"J Biol Chem."},{"issue":"11","key":"e_1_2_8_15_1","first-page":"3257","article-title":"Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis","volume":"80","author":"Kimonis VE","year":"1995","journal-title":"J Clin Endocrinol Metab."},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199304223281604"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0885-4505(92)90074-9"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-4-200708210-00006"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.md.0000164204.00159.d4"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350209"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198812013192206"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050009"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199008303230903"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0650-8"},{"issue":"2","key":"e_1_2_8_25_1","first-page":"67","article-title":"Neurophysiological testing in long\u2010standing cystinosis","volume":"39","author":"Muller\u2010Felber W","year":"1999","journal-title":"Electromyogr Clin Neurophysiol."},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00268-5"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.119.2.394"},{"key":"e_1_2_8_28_1","unstructured":"DoyleM HammondS HammondC et al. Cystinosis Adult Care Excellence Initiative. Executive summary: initial survey results and recommendations. Cystinosis Research Network.2016.https:\/\/www.cystinosis.org\/wp-content\/uploads\/2019\/01\/Exec_summary__1_.pdf. Accessed October 9 2019."},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-2921-5"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.01.033"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/688048"},{"issue":"7","key":"e_1_2_8_32_1","first-page":"870","article-title":"The development and validation of a dysphagia\u2010specific quality\u2010of\u2010life questionnaire for patients with head and neck cancer: the M. D. Anderson dysphagia inventory","volume":"127","author":"Chen AY","year":"2001","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940811701210"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.02.010"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2017.1283712"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24685"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00417897"},{"key":"e_1_2_8_38_1","first-page":"567","volume-title":"Statistical power analysis for the behavioral sciences","author":"Cohen J","year":"1988"},{"key":"e_1_2_8_39_1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.4324\/9781410600127","volume-title":"Applying the Rasch model: fundamental measurement in the human sciences","author":"Bond TG","year":"2001"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26155"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.23108"},{"key":"e_1_2_8_42_1","unstructured":"AzolaA ChungT MulherenR MckeonG Christopher\u2010StineL PalmerJ.Dysphagia in inflammatory myositis: a study of the structural and physiologic changes resulting in disordered swallowing. In: ACR\/ARHP Annual Meeting San Diego CA 2017. Abstract 2147."},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.21.7622-7632.2002"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207512"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.11.1883"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1995.324"},{"issue":"1","key":"e_1_2_8_47_1","first-page":"188","article-title":"Mycophenolate mofetil induced myopathy in a patient with lupus nephritis","volume":"32","author":"Galindo M","year":"2005","journal-title":"J Rheumatol."},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-9120(91)90399-Y"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2010.02334.x"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12119"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.2959"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26726","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.26726","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26726","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T17:00:43Z","timestamp":1721840443000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,24]]},"references-count":50,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/mus.26726"],"URL":"https:\/\/doi.org\/10.1002\/mus.26726","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,24]]},"assertion":[{"value":"2018-12-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}