Rare Disease Show Episode 27 - Understanding CADASIL Syndrome ft. Dr. Mohan Krishna Narasimha Kumar Jonnalagadda - Video

Medical Dialogues presents a rare disease series, exploring the world of uncommon and often misunderstood medical conditions. Rare diseases affect only a small percentage of the population, yet they carry significant health challenges. Through this series, we bring expert insights and simplified explanations to help viewers better understand these conditions.

Rare Disease Show Episode-In today’s episode, we explore CADASIL syndrome, a rare inherited neurological disorder that affects small blood vessels in the brain. CADASIL is caused by mutations in the NOTCH3 gene, leading to reduced blood flow and progressive damage to brain tissue. Patients may experience migraines, recurrent strokes, cognitive decline, and mood disturbances over time. Because its symptoms can mimic more common conditions like stroke or dementia, early recognition and accurate diagnosis-often supported by MRI findings-are crucial. Although there is currently no cure, timely management and lifestyle modifications can play an important role in slowing disease progression and improving quality of life.

In this episode, Dr. Mohan Krishna Narasimha Kumar Jonnalagadda, Senior Consultant Neurologist at Yashoda Hospitals, shares his expert insights while addressing key questions from the Medical Dialogues team, shedding light on the genetics, diagnosis, warning signs, and management of CADASIL.

1. Firstly, what is CADASIL sydrome? How rare is CADASIL globally and in India in particular?

2. What causes CADASIL at the genetic level, and how does it affect the brain?

3. CADASIL is inherited—can you explain how the NOTCH3 gene mutation leads to disease?

4. If one parent has CADASIL, what are the chances their children will develop it?

5. What are the earliest warning signs people often miss?

6. How is CADASIL diagnosed—what role do MRI scans play?

7. When should a doctor suspect CADASIL instead of more common causes of stroke or dementia?

8. Since there’s no cure, what are the main strategies for managing CADASIL? How important is lifestyle management (diet, exercise, smoking cessation)?

9. If someone watching suspects CADASIL in their family, what should they do next?

10. What is one key message you want viewers to remember about CADASIL?