Glycogen storage disease type II history and symptoms: Difference between revisions
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(Created page with " __NOTOC__ {{Glycogen storage disease type II}} {{CMG}} ==Overview== ==History and Symptoms== *Infantile onset- Symptoms include severe lack of muscle tone, weakness, and enla...") |
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}} | {{CMG}}; {{AE}} | ||
==Overview== | ==Overview== | ||
==History and Symptoms== | ==History and Symptoms== | ||
*Infantile onset- Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the [[tongue]] may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age. | *Infantile onset- Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the [[tongue]] may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age. | ||
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*Adult onset- Symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations. | *Adult onset- Symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
{{WS}} | |||
{{WH}} | |||
Revision as of 14:54, 19 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
History and Symptoms
- Infantile onset- Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.
- Juvenile onset- Symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm and lower limbs, as well as exercise intolerance. Intelligence is normal.
- Adult onset- Symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations.