alexa Niemann- Pick disease | Brazil | PDF | PPT| Case Reports | Symptoms | Treatment

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Niemann- Pick Disease

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  • Niemann- Pick disease

    Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.Types A and B occur when acid sphingomyelinase (ASM) is not properly produced in the body, specifically in the white blood cells. Type C is primarily concerned with the body’s inability to efficiently remove excess cholesterol and other lipids. Without proper breakdown, cholesterol builds up in the spleen and liver, and excessive amounts of other fats accumulate in the brain. Type D occurs when the body cannot properly move cholesterol between cells of the brain, and is believed to be a variant of type C. Type E is a rare type of Niemann-Pick disease that occurs in adults. Little is known about this type. This disease mainly causes swollen lymph nodes, brain damage, lung disease, respiratory infections, tremors, neurological problems etc.

  • Niemann- Pick disease

    Several treatment options, including bone marrow transplants, enzyme replacement therapy, and gene therapy have been used. Research is ongoing to determine the effectiveness of such treatments. A medication called miglustat is currently used to treat type C. Miglustat is classified as an enzyme inhibitor, and works by preventing the body from producing fatty substances (in the case of type C, cholesterol) so that less of it will build up in the body. And there is no treatment for type A and D.Several treatment options, including bone marrow transplants, enzyme replacement therapy, and gene therapy have been used. Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Brazil is 1,227 for the estimated total population of 1841011092Australian scientists investigating a rare neurological disorder known as childhood Alzheimer's believe their research could lead to a new treatment for some dementia sufferers.

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