{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T15:56:41Z","timestamp":1790524601394,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,12,6]]},"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:p>\n                    Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterised by multiple joint contractures resulting from impaired fetal movement. A 43-year-old woman presented with a long-standing congenital clubfoot, progressive scoliosis since childhood and distal joint contractures. She had pure sensory findings, with global areflexia, severe sensory ataxia and a positive Romberg sign, significantly affecting her balance and gait. Genetic analysis identified two likely pathogenic variants in the\n                    <jats:italic>PIEZO2<\/jats:italic>\n                    gene, consistent with an autosomal recessive inheritance pattern. We discuss the differential diagnosis of arthrogryposis multiplex congenita, emphasising the importance of considering neuromuscular causes. This case highlights the role of comprehensive neurological assessment in patients with distal joint contractures and scoliosis, showing that detailed peripheral neurological findings can guide genetic testing and lead to an accurate diagnosis.\n                  <\/jats:p>","DOI":"10.1136\/pn-2025-004946","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T18:20:43Z","timestamp":1767723643000},"page":"491-494","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Arthrogryposis as a neuromuscular phenotype: lessons from\n                    <i>PIEZO2<\/i>\n                    loss-of-function"],"prefix":"10.1136","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2173-6127","authenticated-orcid":false,"given":"Daniel Delgado","family":"Seneor","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia Marques","family":"Mendes","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Augustus De Paula Barreto","family":"Garcia","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo Mendon\u00e7a Werneck","family":"da Silva","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor Braga","family":"Farias","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Paulo","family":"Barile","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renan Brand\u00e3o Rambaldi","family":"Cavalheiro","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo de Lima","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0150-525X","authenticated-orcid":false,"given":"Wladimir B V R","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Acary Souza Bulle","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Victor Sgobbi de","family":"Souza","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Divison of Neuromuscular Diseases, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"2026092100401132000_26.5.491.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31721"},{"key":"2026092100401132000_26.5.491.2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.121148"},{"key":"2026092100401132000_26.5.491.3","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1002\/bdra.20611","article-title":"Pena\u2010Shokeir phenotype (Fetal akinesia deformation sequence) revisited","volume":"85","author":"Hall","year":"2009","journal-title":"Birth Defects 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