{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T21:10:34Z","timestamp":1724879434408},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis II (MPS II) is a rare, life\u2010limiting lysosomal storage disease caused by reduced iduronate\u20102\u2010sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15\u2009years of data from the Hunter Outcome Survey (HOS). Of the 245 patients in the study population, 90.2% had skeletal deformity (median onset, 2.8\u2009years), 76.7% had upper body stiffness (onset, 4.2\u2009years), and 61.2% had lower body stiffness (onset, 5.3\u2009years); 63.7% of patients had at least three joint manifestations. Orthopedic manifestations were common in adults and children with MPS II, and in patients with and without cognitive impairment. Joint range of motion (JROM) was restricted in all joints assessed (shoulder, elbow, hip, wrist, knee, and ankle). Little correlation was observed between JROM measurements, subjective reports of joint stiffness and limited function, and 6\u2010minute walk test results. Patients with joint stiffness and limited function were generally more likely to have central and peripheral nervous system, pulmonary, and cardiovascular manifestations than those without these symptoms. Carpal tunnel decompression was the most common orthopedic surgery (recorded in 49\/245 patients [20.0%]), but orthopedic surgeries were uncommon overall. Our findings highlight the need for routine monitoring of orthopedic manifestations using multiple assessment types in patients with MPS II to help inform clinical decision\u2010making and improve patient quality of life. They also underline the contribution of factors other than orthopedic manifestations to the walking ability of patients with MPS II.<\/jats:p>","DOI":"10.1002\/jmd2.12401","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T04:41:31Z","timestamp":1701146491000},"page":"17-24","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterization of orthopedic manifestations in patients with mucopolysaccharidosis <scp>II<\/scp> using data from 15\u2009years of the Hunter Outcome Survey"],"prefix":"10.1002","volume":"65","author":[{"given":"Bianca","family":"Link","sequence":"first","affiliation":[{"name":"University Children's Hospital  Z\u00fcrich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaco","family":"Botha","sequence":"additional","affiliation":[{"name":"Takeda Pharmaceuticals International AG  Z\u00fcrich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Department of Genetics\/UFRGS Medical Genetics Service\/HCPA, INAGEMP and Casa dos Raros  Porto Alegre Brazil"},{"name":"Dasa Genomica  S\u00e3o Paulo 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