Despite having few signs and symptoms of Angelman syndrome (AS), an infant boy was eventually diagnosed by genetic testing as a result of his nonspecific developmental delays and unexplained low muscle tone, according to a case study. “This report is a good example for giving clinicians a lower threshold…
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I wasn’t surprised or outraged when I read the news article “‘They matter too’ Las Vegas mom upset over special needs son’s exclusion in yearbook,” by Joshua Peguero. Instead, I felt fueled and encouraged. It was a wake-up call to continue writing about Angelman syndrome (AS) and advocating…
Increases in autophagy, a pathway for clearing cellular waste, were observed in cell and mouse models of Angelman syndrome (AS) in a recent study that revealed new details of this disease mechanism. Researchers noted that it isn’t yet clear whether this increase is a compensatory process to help restore…
Waking up full of energy is a rarity for Angel mom and columnist Sabrina Johnson, who usually spends Mother’s Day taking it easy.
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There is no cure for Angelman syndrome yet, but there are treatments that can help manage the disease. Learn more about the approved and experimental therapies here.
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