{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T06:55:45Z","timestamp":1785394545202,"version":"3.55.0"},"reference-count":17,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T00:00:00Z","timestamp":1671148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institutional financial support for scientific research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive inherited skeletal dysplasia characterized by progressive non-inflammatory arthropathy affecting primarily the articular cartilage. Currently, little is known about the functional musculoskeletal aspects of these patients. In particular, an abnormal gait pattern has been described, without a clear hypothesis of the underlying causes in terms of muscular activity. This study presents the case of two siblings, 4 and 9 years old, a boy and a girl, respectively, suffering from PPRD at different stages of the disease. In addition to the clinical assessment, an instrumental gait analysis was performed. Swelling of the interphalangeal finger joints and fatigue were present in both cases. Gait abnormalities consisted of a relevant reduction in the ankle plantarflexion in the terminal phase of the gait cycle, associated with reduced gastrocnemius EMG activity and increased activity of the tibialis anterior, resulting in overloading at the initial peak of ground reaction forces. Gait anomalies observed were similar in both siblings with PPRD, although at different ages, and confirm walking patterns previously described in the literature. The calf muscle strength deficit and reduced activity during the stance phase of gait present in these two siblings indicate the typical absence of the propulsive phase. A stomping gait pattern, with the foot striking the ground hard on each step, was originally described. Further neurophysiological investigations are required to determine the origin of muscle weakness.<\/jats:p>","DOI":"10.3390\/children9121982","type":"journal-article","created":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T06:24:44Z","timestamp":1671431084000},"page":"1982","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia"],"prefix":"10.3390","volume":"9","author":[{"given":"Silvia","family":"Sassi","sequence":"first","affiliation":[{"name":"Children Rehabilitation Unit, Azienda USL-IRCCS di Reggio Emilia, 42121 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0170-3766","authenticated-orcid":false,"given":"Silvia","family":"Faccioli","sequence":"additional","affiliation":[{"name":"PhD Program in Clinical and Experimental Medicine, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41100 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina Mariagrazia","family":"Farella","sequence":"additional","affiliation":[{"name":"Physical Medicine and Rehabilitation Unit, IRCCS\u2014Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9037-4767","authenticated-orcid":false,"given":"Roberto","family":"Tedeschi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40100 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42121 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Benedetti","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40100 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00296-018-4170-6","article-title":"Progressive pseudorheumatoid dysplasia: A rare childhood disease","volume":"39","author":"Torreggiani","year":"2019","journal-title":"Rheumatol. Int."},{"key":"ref_2","first-page":"190","article-title":"Patients with progressive pseudorheumatoid dysplasia: From clinical diagnosis to molecular studies","volume":"5","author":"Ye","year":"2012","journal-title":"Mol. Med. Rep."},{"key":"ref_3","first-page":"217","article-title":"The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals","volume":"160","author":"Mittaz","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1399-0004.1993.tb03868.x","article-title":"Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height","volume":"44","author":"Legius","year":"1993","journal-title":"Clin. 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Biomech."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"285","DOI":"10.2147\/JPR.S282736","article-title":"Promising Effect of Visually-Assisted Motor Imagery Against Arthrogenic Muscle Inhibition\u2014A Human Experimental Pain Study","volume":"14","author":"Oda","year":"2021","journal-title":"J. Pain Res."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/12\/1982\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:42:49Z","timestamp":1760146969000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/12\/1982"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,16]]},"references-count":17,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["children9121982"],"URL":"https:\/\/doi.org\/10.3390\/children9121982","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,16]]}}}