OTHER+INFORMATION-TL


 * //__ Other information: __//**


 * ====The disease is named after Johann Pompe, who characterized it in 1932.====
 * These babies die before the age of one year from either cardiorespiratory failure or respiratory infection.
 * Pompe Disease is also known as glycogen storage disease type II (GSD-II) or acid maltase deficiency (AMD).
 * ** Inherited ** and often fatal disorder that disables the heart and muscles.
 * It is **caused** by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy

Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency**.**
 * Prospective participants must be at least 18 years old and have an unconfirmed or unclassified diagnosis of LGMD, myotonic dystrophy [5] , [|Emery-Dreifuss MD] [6] , oculopharyngeal MD [7] , distal MD [8] , facioscapulohumeral MD [9] , polymyositis [10] , hyperthyroid myopathy [11] , hypothyroid myopathy [12] <span style="font-family: 'Calibri','sans-serif';">, mitochondrial myopathy <span class="print-footnote" style="font-family: 'Calibri','sans-serif';">[13] <span style="font-family: 'Calibri','sans-serif';">, or another unclassified myopathy. They also must meet other study criteria.
 * <span style="font-family: 'Calibri','sans-serif';">[|Find out more about symptoms shared with other diseases]

<span style="background: white; font-family: 'Calibri','sans-serif'; font-size: 16px; line-height: 115%;">What other names do people use for Pompe disease?

 * acid maltase deficiency
 * acid maltase deficiency disease
 * alpha-1,4-glucosidase deficiency
 * AMD
 * deficiency of alpha-glucosidase
 * GAA deficiency
 * glycogenosis Type II
 * glycogen storage disease type II
 * GSD2
 * GSD II
 * Pompe's disease

<span style="font-family: 'Calibri','sans-serif'; font-size: 16px;">Related Disorders List
<span style="font-family: 'Calibri','sans-serif';">Information on the following diseases can be found in the [|Related Disorders] section of this report:
 * Von Gierke Disease
 * Forbes Disease
 * McArdle Disease
 * Tarui Disease
 * Andersen Disease
 * Werdnig-Hoffmann Disease



2003-2011 Genzyme Corporation,POMP-US-P045-01-11
 * Bibliography: **
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2003-2011 Genzyme Corporation,POMP-US-P045-01-11

2011 <span class="copyright_individualization_class" style="margin-right: 10px;">Media General Communications Holdings, [|Tammie Smith]
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2000-2011 Drugs.com,Wolters Kluwer
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