🌐 Entity
Angelman syndrome
Genetic disorder caused by a mutation of chromosome 15
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📌 Topics
- Parental Advocacy (1)
- Rare Disease (1)
- Professional Transformation (1)
- Family Dynamics (1)
🏷️ Keywords
Angelman syndrome (1) · rare disease (1) · physician parent (1) · medical advocacy (1) · family caregiving (1) · grief and resilience (1) · neurogenetic disorder (1)
📖 Key Information
Angelman syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000 individuals. AS impairs the function of the nervous system, producing symptoms such as severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, hyperactivity, and sleep problems. Physical symptoms include a small head and a specific facial appearance.
📰 Related News (1)
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🇺🇸 CNBC Cures: A father and a doctor on how raising a child with Angelman syndrome changed him
A doctor reflects on how raising a son with Angelman syndrome reshaped his family, deepened his empathy and turned grief into advocacy....