| Congenital myasthenic syndrome with sleep hypoventilation. | |
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MedLine Citation:
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PMID: 10883011 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment. |
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Authors:
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S T Iannaccone; J K Mills; K M Harris; J H Herman; P Schochet; P Luckett |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 23 ISSN: 0148-639X ISO Abbreviation: Muscle Nerve Publication Date: 2000 Jul |
Date Detail:
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Created Date: 2000-08-07 Completed Date: 2000-08-07 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1129-32 Citation Subset: IM |
Copyright Information:
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Copyright 2000 John Wiley & Sons, Inc. |
Affiliation:
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Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acetylcholinesterase
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deficiency* Humans Hypoventilation / congenital*, etiology*, therapy Infant Lung Volume Measurements Male Neuromuscular Diseases / complications*, congenital*, therapy Polysomnography Respiration, Artificial Syndrome |
| Chemical | |
Reg. No./Substance:
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EC 3.1.1.7/Acetylcholinesterase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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