Rare Disease Show Episode 13 - Understanding Canavan Disease Ft. Dr Praveen Kumar

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 13 -- In today's show we will cover Canavan Disease.

Canavan disease is a rare genetic disorder that primarily affects the brain's white matter. It is caused by mutations in the ASPA gene, leading to a deficiency of the enzyme aspartoacylase. This enzyme is essential for breaking down N-acetylaspartic acid (NAA), a compound found in the brain.

Without proper enzyme function, NAA accumulates, causing brain tissue to swell and deteriorate. Symptoms typically appear in infancy and include developmental delays, muscle weakness, poor muscle tone, and an enlarged head.

Canavan disease is a progressive condition, and currently, there is no cure. Treatment focuses on managing symptoms and providing supportive care.

In this episode, Dr Praveen Kumar, a Paediatric Neurologist, shares his insights by addressing questions asked by the Medical Dialogues team.

1. Why is this a rare disease? What are the early signs and symptoms of Canavan disease, and how is it typically diagnosed?

2. Can you explain the genetic basis of Canavan disease and how it affects the central nervous system?

3. What is the current standard of care for managing Canavan disease, and are there any emerging treatments?

4. How does Canavan disease progress over time, and what is the typical life expectancy for individuals with this condition?

5. Are there any recent advancements in gene therapy or other research that offer hope for a cure or improved management of Canavan disease?

6. Are there any specific neurological symptoms or complications that are particularly challenging to manage in Canavan disease?

7. What role do neurologists play in the multidisciplinary care of patients with Canavan disease?

8. How can genetic counselling benefit families affected by Canavan disease, particularly those considering future pregnancies?