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Rare Disease Show Episode 11- Understanding Neuronal Ceroid Lipofuscinosis Ft. Dr Usha Mallinath
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Overview
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?
Speakers
Dr. Nandita Mohan
BDS, MDS( Pedodontics and Preventive Dentistry)
Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751
Dr. Usha Mallinath (MBBS, MD (Paediatrics), FAAP (USA), Clinical Neurophysiology and Epilepsy Fellowship) is a Consultant Paediatric Neurologist at Manipal Hospital, Whitefield, Bangalore. She is an American Board-Certified Pediatrician with an MD in Pediatrics from Columbia University, New York, USA. Dr. Usha completed her Pediatric Neurology training at Columbia University and the Memorial Sloan Kettering Cancer Center in the USA and is a Fellow of the American Academy of Pediatrics (FAAP). With over 22 years of experience in pediatric neurology, Dr. Usha specializes in a wide range of conditions, including Pediatric Epilepsy, Pediatric Headaches, Developmental Delays, Cerebral Palsy, ADHD, Autism, Neuromuscular Disorders, Pediatric Stroke, and Behavioral Disorders.