| Congenital myasthenic syndrome: a case report. | |
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MedLine Citation:
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PMID: 21614992 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Summary: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays. |
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Authors:
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A Ceylan; O Tuncer; R Sayin; E Peker; H Caksen; S Sari |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 22 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-05-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 75-8 Citation Subset: IM |
Affiliation:
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Yuzuncu Yil University, Faculty of Medicine, Department of Pediatrics, Van, Turkey. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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