| Respiratory insufficiency in adult-type acid maltase deficiency. | |
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MedLine Citation:
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PMID: 8488406 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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AMD is a glycogen storage disease that affects all age groups. In both childhood and adult forms, the classic clinical picture is that of a progressive myopathy that may resemble polymyositis or limb girdle muscular dystrophy. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality from AMD. These findings underscore the need to consider AMD in the differential diagnosis of unexplained respiratory insufficiency. We have described the case of one patient in whom respiratory failure was the initial symptom and two other cases in which the patient had progressive muscular weakness and subsequent respiratory failure. A review of the literature revealed that respiratory muscle weakness has been reported in 21 of 43 cases of AMD in adults. In 10 cases respiratory insufficiency was preceded by only mild or moderate weakness. |
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Authors:
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N A Moufarrej; T E Bertorini |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Southern medical journal Volume: 86 ISSN: 0038-4348 ISO Abbreviation: South. Med. J. Publication Date: 1993 May |
Date Detail:
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Created Date: 1993-06-08 Completed Date: 1993-06-08 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0404522 Medline TA: South Med J Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 560-7 Citation Subset: AIM; IM |
Affiliation:
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University of Tennessee, Departments of Neurology and Pathology, Memphis 38163. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Female Glucan 1,4-alpha-Glucosidase / deficiency Glycogen Storage Disease Type II / complications*, pathology Humans Muscles / ultrastructure Respiratory Insufficiency / etiology* alpha-Glucosidases |
| Chemical | |
Reg. No./Substance:
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EC 3.2.1.20/alpha-Glucosidases; EC 3.2.1.3/Glucan 1,4-alpha-Glucosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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