{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:29:52Z","timestamp":1777516192984,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2018,1,1]]},"abstract":"<jats:p>The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c.2362C &gt; T (p.Arg788*) and a novel frameshift mutation c.2048delG (p.Gly683A1afs*50). Serial nerve conduction study and electromyography confirmed progressive sensorimotor polyneuropathy and neuronopathy. In summary, this case report describes a child with spinal muscular atrophy with respiratory distress type 1 also with congenital cardiac disease and endocrine dysfunction, expanding the phenotypic spectrum of this condition. A high index of suspicion is needed in diagnosing this rare condition to guide the management and genetic counseling.<\/jats:p>","DOI":"10.1177\/2329048x18769811","type":"journal-article","created":{"date-parts":[[2018,4,19]],"date-time":"2018-04-19T21:53:44Z","timestamp":1524174824000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Spinal Muscular Atrophy With Respiratory Distress Type 1\u2014A Child With Atypical Presentation"],"prefix":"10.1177","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0249-9725","authenticated-orcid":false,"given":"Annie Ting Gee","family":"Chiu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophelia Hoi Shan","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun Ping","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun Hin","family":"Ting","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Biochemistry, Queen Elizabeth Hospital, Hong Kong, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian Hon Yin","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angel On 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