{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T05:15:01Z","timestamp":1789967701698,"version":"4.0.1"},"reference-count":22,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2007,12,13]],"date-time":"2007-12-13T00:00:00Z","timestamp":1197504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:p>Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1), recently referred to as distal spinal muscular atrophy 1 (DSMA1; MIM#604320) and also known as distal hereditary motor neuropathy type 6 (dHMN6 or HMN6), results from mutations in the IGHMBP2 gene on chromosome 11q13.3 encoding the immunoglobulin \u00b5-binding protein 2. In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation. In this article, the authors review the clinical, neuropathological, and genetic aspects of distal spinal muscular atrophy 1 and discuss differential diagnoses.<\/jats:p>","DOI":"10.1177\/0883073807310989","type":"journal-article","created":{"date-parts":[[2008,2,8]],"date-time":"2008-02-08T12:08:18Z","timestamp":1202472498000},"page":"199-204","source":"Crossref","is-referenced-by-count":54,"title":["Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)"],"prefix":"10.1177","volume":"23","author":[{"given":"Angela M.","family":"Kaindl","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9, University Medical Center, Berlin, Germany, Laboratoire de Neurologie du D\u00e9veloppement, Inserm-Paris U676, H\u00f4pital Robert Debr\u00e9, Paris, France, MD-NET, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf-Peter","family":"Guenther","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9, University Medical Center, Berlin, Germany, Department of Biology, Chemistry and Pharmacy, Free University of Berlin, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Rudnik-Sch\u00f6neborn","sequence":"additional","affiliation":[{"name":"Insitute of Human Genetics, University Hospital, Technical University, Aachen, Germany, MD-NET, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymonda","family":"Varon","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Charit\u00e9, University Medical Center, Berlin, Germany, MD-NET, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Zerres","sequence":"additional","affiliation":[{"name":"Insitute of Human Genetics, University Hospital, Technical University, Aachen, Germany, MD-NET, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9, University Medical Center, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"H\u00fcbner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9, University Medical Center, Berlin, Germany, MD-NET, Bonn, Germany,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"von Au","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9, University Medical Center, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2007,12,13]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"atypb2","unstructured":"Rudnik-Sch\u00f6neborn S., de Visser M., Zerres K. Spinal muscular atrophies. In: Engel AG, Franzini-Armstrong C, eds. Myology, Basic and Clinical. 3rd ed., volume II. 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