Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=395;epage=398;aulast=Lingappa |
| _version_ | 1818213766467158016 |
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| author | Lokesh Lingappa Nikit Shah Ananth Sagar Motepalli Farhan Shaik |
| author_facet | Lokesh Lingappa Nikit Shah Ananth Sagar Motepalli Farhan Shaik |
| author_sort | Lokesh Lingappa |
| collection | DOAJ |
| description | Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling. |
| first_indexed | 2024-12-12T06:09:30Z |
| format | Article |
| id | doaj.art-a0aa500402ba4bd9b99d96af21e398ad |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-12-12T06:09:30Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-a0aa500402ba4bd9b99d96af21e398ad2022-12-22T00:35:12ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492016-01-0119339539810.4103/0972-2327.168635Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literatureLokesh LingappaNikit ShahAnanth Sagar MotepalliFarhan ShaikSpinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=395;epage=398;aulast=LingappaAtrophyautosomal recessivediaphragmatic spinal muscular atrophydistal spinal muscular atrophymuscular atrophyneuronopathyneuronopathy severe infantile axonal with respiratory failureSMARD1SpinalType VI |
| spellingShingle | Lokesh Lingappa Nikit Shah Ananth Sagar Motepalli Farhan Shaik Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature Annals of Indian Academy of Neurology Atrophy autosomal recessive diaphragmatic spinal muscular atrophy distal spinal muscular atrophy muscular atrophy neuronopathy neuronopathy severe infantile axonal with respiratory failure SMARD1 Spinal Type VI |
| title | Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature |
| title_full | Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature |
| title_fullStr | Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature |
| title_full_unstemmed | Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature |
| title_short | Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature |
| title_sort | spinal muscular atrophy with respiratory distress syndrome smard1 case report and review of literature |
| topic | Atrophy autosomal recessive diaphragmatic spinal muscular atrophy distal spinal muscular atrophy muscular atrophy neuronopathy neuronopathy severe infantile axonal with respiratory failure SMARD1 Spinal Type VI |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=395;epage=398;aulast=Lingappa |
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