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MPS II: Family Matters, presented by Dr Christina Lampe

Dr Christina Lampe is the Vice Director and Founder of the Center for Rare Diseases at the Dr Horst Schmidt Clinic in Wiesbaden and the Center for Rare Diseases at the Department of Child Neurology, Epileptology and Social Paediatrics at the University of Giessen. In this episode of the MPS Webinar Series, Dr Lampe, who has spent over a decade focused on MPS diagnosis and treatment, discusses the common pathophysiology and early symptoms of MPS II, as well as the inheritance pattern and family impact of this rare disease. The mucopolysaccharidosis (MPS) diseases are a group of rare, genetic, metabolic disorders. All MPS diseases are inherited in a recessive pattern, meaning that some people might be carriers of the disease but are unaffected. MPS II is different from the other MPS diseases because its inheritance is X-linked, meaning that males are almost exclusively affected.1 People with MPS do not have enough, or any, of an enzyme that is needed to break down a sugar, called a mucopolysaccharide or glycosaminoglycan (GAG). As a result, GAGs build up throughout the body and can cause damage to cells.1 There are seven major types of MPS disease, with subtypes in three of these, and each one lacks a different enzyme that is required to break down GAGs. All of the MPS disorders are progressive, meaning they worsen with time. They are also all heterogeneous, meaning that they can affect different people differently, often resulting in a spectrum of clinical severity from mildly to severely affected.1 For more information on MPS II (also known as Hunter Syndrome), please visit http://www.huntersyndrome.info/ The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice. For more information about upcoming webinars, please visit: //www.huntersyndrome.info/hcp Takeda Pharmaceutical Company Limited. All rights reserved. C-ANPROM/INT/HUNS/0007 October 2020 References: 1. Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011; 6: 72.