Скачать с ютуб What is Niemann-Pick Disease Type C (NPC)? в хорошем качестве

What is Niemann-Pick Disease Type C (NPC)?

Marc C. Patterson, MD, Professor of Neurology, Pediatrics, and Medical genetics, and Chair of the Division of Child and Adolescent Neurology, at the Mayo Clinic in Rochester, MN, gives an overview of Niemann-Pick disease type C (NPC). As Dr. Patterson explains, NPC is a disabling neurogenetic disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. The underlying, principal abnormality is the cell’s inability to adequately move fatty molecules (e.g., cholesterol) out of the cell’s lysosomes, resulting in their accumulation. This dysfunction has been associated with mutations in one of two genes (NPC1 or NPC2). It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time. To learn more about NPC and other lysosomal storage diseases, visit checkrare.com/diseases/lysosomal-storage-disorders/