Rare Disease Show : Episode 6 Understanding Acanthocytosis Chorea Ft. Dr Syamlal S
Written By : Dr. Nandita Mohan
Written By : Dr Syamlal S
Published On 2024-07-08 14:30 GMT | Update On 2024-07-09 09:13 GMT
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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 6-- In today's show we will cover Acanthocytosis Chorea.
Chorea-acanthocytosis is a rare autosomal recessive disease caused by a mutation of the VPS13A gene. The age of onset is typically between 25 and 45 years and manifests with buccolingual dyskinesias, tongue protrusions (“feeding dystonia”), mutilations of tongue and lips, generalized chorea, and peripheral neuropathy. Blood smears may show acanthocytes and elevation of CK levels is seen in most cases. Western blot is more specific and shows reduced chorein expression. In this episode, Dr. Syamlal S, Senior Consultant- Neurology shares his insights by addressing questions asked by the Medical Dialogues team.
1. Firstly, can you provide us an overview of Acanthocytosis Chorea, its primary characteristics and most importantly why is it known as a rare disease?
2. What are the causes of Acanthocytosis Chorea, and how is it genetically inherited?
3. What are the early signs and symptoms of Acanthocytosis Chorea that patients and families should be aware of?
4. How is Acanthocytosis Chorea diagnosed, and what tests are typically used to confirm the diagnosis?
5. What role do acanthocytes (abnormal red blood cells) play in the development of chorea and other neurological symptoms?
6. What treatment options are available for managing the symptoms of Acanthocytosis Chorea and how effective are the current treatments in slowing the progression of the disease and improving the quality of life for patients?
7. Does physical therapy, diet or lifestyle modifications play an important role in the management of Acanthocytosis Chorea?
8. Lastly, if you can highlight any recent advancements in research or potential new treatments for Acanthocytosis Chorea?
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