Rare Disease Show Episode 11- Understanding Neuronal Ceroid Lipofuscinosis Ft. Dr Usha Mallinath
Written By : Dr. Nandita Mohan
Written By : Dr Usha Mallinath
Published On 2024-08-20 15:45 GMT | Update On 2024-08-20 15:45 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 11 -- In today's show we will cover Neuronal Ceroid Lipofuscinosis.
Neuronal Ceroid Lipofuscinosis (NCL), commonly known as Batten disease, is a group of rare, inherited neurodegenerative disorders characterized by the accumulation of lipopigments (lipofuscin) in the body's tissues. These disorders primarily affect the nervous system, leading to progressive vision loss, seizures, cognitive decline, and motor function deterioration.
Symptoms often begin in childhood, and the severity and age of onset can vary depending on the specific type of NCL. Currently, there is no cure for NCL, and treatment focuses on managing symptoms and improving the quality of life for affected individuals.
In this episode, Dr Usha Mallinath, a Paediatric Neurologist shares his insights by addressing questions asked by the Medical Dialogues team.
1. Can you provide an overview of NCL and also as to why it is called Rare disease
2. What causes NCL?
3. What are the primary clinical features of NCL?
4. How is NCL diagnosed and what tests are typically used to confirm the diagnosis?
5. What treatment options are available for managing NCL?
6. What is the prognosis of children with NCL?
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