Rare Disease Show: Episode 4 - Understanding Angelman Syndrome
Written By : Dr. Nandita Mohan
Written By : Dr Pratibha Singhi
Published On 2024-06-04 02:45 GMT | Update On 2024-06-04 02:45 GMT
Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.
Rare Disease Show Episode 4-- In today's show we will cover Angelman Syndrome.
Angelman syndrome is a rare genetic disorder caused by a malfunction in the UBE3A gene on chromosome 15. It leads to developmental delays, severe speech impairment, intellectual disability, and movement issues. People with this syndrome often have a happy, excitable demeanor with frequent smiling and laughter. While there is no cure, therapies can improve quality of life by managing symptoms and enhancing communication and motor skills.
In this episode, Dr Pratibha Singhi, a Pediatric Neurologist shares her insights by addressing following questions:
1. Can you provide an overview of Angelman Syndrome, as why is it considered a rare disorder? Also if you can explain its causes and genetic basis?
2. What are the primary symptoms and characteristics of Angelman Syndrome?
3. How is Angelman Syndrome diagnosed, and what tests are typically used to confirm the diagnosis?
4. What treatment options are available for managing the symptoms of Angelman Syndrome?
5. Can you discuss any recent advancements in research or treatment for Angelman Syndrome?
6. What role do genetic counseling and testing play for families with a history of Angelman Syndrome?
7. What therapies can help manage the behavioral and sleep issues often seen in Angelman Syndrome?
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