what is the niemann-pick disease?
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Niemann-Pick Disease\nFrom Mary Kugler,\n\nGroup of storage disorders\nStorage disorders occur when the body is unable to break down certain enzymes, as it normally would, so the excess enzyme accumulates and causes damage to the body's cells. Niemann-Pick disease refers to a group of inherited storage disorders which affect how the body creates energy (metabolism). \nCertain groups have higher risk\nNiemann-Pick disease affects all groups of people and both males and females. However, certain populations have a higher incidence of the disease: \n\nAshkenazi Jewish population (Types A and B) \nFrench Canadian population of Nova Scotia (variation of Type C) \nMaghreb region (Tunisia, Morocco, Algeria) of North Africa (Type B) \nSpanish-American population of southern New Mexico and Colorado (Type C) \nThe three types of Niemann-Pick disease are commonly called Type A, Type B, and Type C. \n\nleads to accumulation of a fat (sphingomyelin) which damages cells severe neurological disease \nleads to death by 2 to 3 years of age \nmost cases (85%) of Neimann-Pick are Type A \nType B Niemann-Pick \n\ncaused by deficiency of acid sphingomyelinase - approximately 10% of normal level \nleads to accumulation of sphingomyelin which damages cells \nlittle or neurological problems \noften live into adulthood \nType C Neimann-Pick \n\ncaused by inability to break down cholesterol \nleads to accumulation of cholesterol and other fats in liver, spleen, and brain \nneurological disease develops \nleads to death usually by age 20 \nmost rare type of Niemann-Pick (possibly 500 cases worldwide) \nSymptoms variable\nOne of the difficulties in correctly diagnosing Niemann-Pick disease is that its symptoms can be different in each person affected. Types A and C have neurological symptoms such as difficulty walking, speaking, and learning. Type B does not have these symptoms; the only clue to the disease may be repeated respiratory infections and an enlarged abdomen. \n\nDiagnosis\nTypes A and B can be diagnosed by measuring the ASM activity in white blood cells; low levels would point to Niemann-Pick. Type C can be diagnosed by examining a skin sample (biopsy) for cholesterol storage. \n\nResearch for treatments and cures\nAs yet there are no definitive treatments or cures for any type of Niemann-Pick disease. Supportive care through nutrition, medication, physical therapy, and being followed by specialists can help with quality of life. \n\nThe discovery in 1997 of the gene responsible for Niemann-Pick disease has helped focus research for treatments. Research has been taking several directions: \n\nBone marrow transplantation has shown effectiveness in mice for Type B \nEnzyme replacement has shown effectiveness in mice for Type B \nGene therapy has shown effectiveness in mice for Type A \nA medication called Zavesca showed some effectiveness in slowing Type C in mice. \nInformation for this article was taken from:\n- National Niemann-Pick Disease Foundation.\n- Centurion, S. A. (2003). Niemann-Pick disease. eMedicine, accessed at http://www.emedicine.com/derm/topic699.htm
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yes, I heard of it.  Its an autoimmune disease.  Your skin begins to tighten on your hand and face I think.  It becomes hard to eat too, they have throat problems.  A lot of people that have it also have Raynaulds and have cold fingers and toes.  There are several blood test that a specialist can do to see if you have it.  So instead of worrying, get the blood test.
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There is no such disease in the medical literature.\n\nThere is however a fictional account of somebody with Reuben's disease:\n\nhttp://nothorse.org/archives/Fullstory
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Tay-Sachs disease is a fatal genetic disease of the central nervous system. Babies born with Tay-Sachs appear healthy at birth and develop normally for the first 4 to 6 months. After this time, development slows and symptoms begin. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. Infants with Tay-Sachs lack an enzyme called hexosaminidase A necessary for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Death usually occurs by age 4 to 5 from recurring infection. There is not tratment. \nThe incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent, both parents must carry the mutated gene in order to have an affected child.\nThere is a lot more to know, just google it.
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Type I diabetes (Diabetes mellitus, type I), which developes exclusively of obesity or other environmental factors, usually in early childhood, is a genetic disease present in rougly 2% of the population, and about 15% of all diabetics. This number can vary. Many cases go undiagnosed for years.\n\nGiven the financial and political power of older, obese Type II diabetics, this form of the disease, Type I, typically takes a backseat. Many people are even unaware of the existence of this form, despite its prevalence and the lack of blame that can be place on those afflicted. That is, lifestyle choices do NOT come into play with Type I diabetics. They are generally believed to have been born with a malfunctioning, if you will, pancreas.
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I believe you mean diabetes. This is a very serious health condition where the blood sugars are either too high or low.  Diabetes can be genetic, brought on by poor diet and inactive lifestyle or pregnancy-when the hormones become inbalanced and they inhibit the production of insulin in the pancreas.  Diabetes, if left untreated, can cause a myriad of other serious health issues-high blood pressure, high cholesterol, circulatory problems, heart disease, blood clotting, vision problems, migraines, seizures...the list goes on.  The good news is that if you detect it early and treat it seriously-by following the doctor's orders, strict diet and regular excercise, you can live a very long and healthy life.  My father has controlled his diabetes for years, without medication.  He follows a good diet-he allows himself to misbehave once a week, and plenty of excercise.  Some individuals, because of genetic, or a refusal to take ownership of their health, must also rely on medication-which ranges from glucose medications to insulin injections.  I wish you well and hope that you make wise choices.
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ALS\nCIDP\nDiabetic Neuropathy\nLyme Disease\netc.
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Please see the webpages for more details on Lysosomal storage disease.
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could be a condition call calisthinosis (sp?)
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Cystic fibrosis, or 'mucoviscidosis', is a hereditary disease. A defective gene results in an inability to transport salt in certain kinds of cells in the lungs and in the pancreas. It is the most common hereditary disease in Western Europe. \n\nWhy does a person get cystic fibrosis?\n\nCystic fibrosis is an 'autosomal recessive' disease, which means that both parents have a gene defect that they pass on to their offspring. But the child will have cystic fibosis only if it inherits both of the defective copies of the gene. There is a 1:4 chance of this happening. \n\nIn the other three out of four chances the child will inherit a normal copy of the gene and be unaffected by cystic fibrosis. The exact mechanism is not known, but the altered salt transport severely thickens the mucus in the respiratory passages. This makes the respiratory passages more susceptible to bacterial infection, most frequently Staphylococcus and Pseudomonas.\n\nHow can I tell if I have cystic fibrosis?\n\nThe symptoms are usually noticeable in the first year of life. If cystic fibrosis is suspected, the diagnosis can be confirmed through a special sweat test. The GP can then make a referral to a cystic fibrosis centre at a hospital.\n\nIn the lungs, the disease results in repeated cases of pneumonia and breathing difficulties. The pancreas becomes less able to produce digestive juices, which may result in weight loss and greasy diarrhoea.\n\nThe disease increases the salt content in the patient's sweat. At high temperatures this may result in the patient losing too much salt and suffering heatstroke.\n\nWhat can I do?\n\nIf somebody is expecting to be a parent, they should check if there have been any cases of cystic fibrosis in their family. If there is, they can talk to their doctor about being referred to a genetic counsellor. The counsellor will be able to assess the chances of the baby having the disease, at which point a decision can be made about continuing the pregnancy.\n\nSomeone with cystic fibrosis must avoid unnecessarily straining their lungs, for instance by smoking. Lung exercises with a special mask (PEP) are often useful.\n\nFuture prospects\n\nPreviously, the prognosis for cystic fibrosis sufferers was very gloomy. But the treatment is getting better and now there is an 80 per cent chance that a child with cystic fibrosis will live for over 40 years.\n\nGenetic treatment holds considerable promise over the next decade but it will be in the future before this becomes any kind of mainstream treatment.\n\nHow is cystic fibrosis treated?\n\nThe treatment aims to maximise the lung function for as along as possible.\n\n\nCommon treatments include lung physiotherapy as well as antibiotics to minimise the risk of lung infections. Complications within the pancreas can be managed by controlling the patient's diet, and providing supplements of pancreatic enzymes (eg Creon) to add to food.\n\n\nAs a result of cystic fibrosis, some patients may also suffer asthma, which can be alleviated by asthma inhalers.\n\n\nA lung or a lung and heart transplant may be necessary if the lung function deteriorates very significantly.
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According to a website I found, Corticobasal ganglionic degeneration is a rare disorder which involves the combination of Parkinsonism and cortical dysfunction.
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Hirschprungs disease (congenital aganglionosis of the colon--a nerve system never forms properly in the lower colon)\n\nVolvulus (the colon twists upon its axis and can cut off blood supply)\n\nBezoars (an accumulation in the stomach that results from ingesting quantities of things not digestible, like hair)\n\nChron's disease (aka regional ileitis...an inflammatory condition of unknown origin)
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It is a metabolic disease causing slow growth, enlarged liver, gout, kidney failure and chronic low blood sugar.  New treatments have greatly imporved the outcome for people with this disease.  With early diagnosis and treatment people who have it now live to adulthood.\n\nThe websites attached should help you.
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Definitions of Galactosemia \n\na rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly.\nwww.theliverfoundationforkids.org/glossary.html\n\nGalactosemia is a disorder that affects how the body processes certain sugars (sugar metabolism). This condition results when the body is not able to process the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products. Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition if not treated.\ngoldbamboo.com/glossary-1g.html\n\nAn inherited condition resulting in the inability of the body to digest one of the sugars (galactose) found in breast and cow's milk. The resulting accumulation of galactose in the body's system can cause many problems, including liver damage, cataracts, mental retardation and possible death.\nwww.health.state.mo.us/NewbornScreening/Glossary.html\n\nhttp://www.google.com/search?hl=en&lr=&oi=defmore&defl=en&q=define:Galactosemia\nhttp://www.galactosemia.org/galactosemia.htm
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Mitochondrial cytopathies are a heterogeneous group of\ndisorders that can affect almost all organ systems reflecting ATP depletion. Neuromuscular disorders were the first to be studied, and direct evidence of mitochondrial DNA(mtDNA) abnormalities was demonstrated in 1988.\nHowever, only 6% of the patients suspected of having mitochondrial disorders have been found to have mtDNA\npoint mutations or deletions. Most pediatric mitochondrial\ndisorders are caused by defects in nuclear genes\nand with an autosomal recessive inheritance. This case\nof neonatal mitochondrial dysfunction presenting with\nhyperammonemia and ventricular tachycardia expands\nthe clinical spectrum of these disorders.
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genetics, obesity, smoking, high cholesterol and/or triglycerides, lack of exercise, placement of body fat
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it is a terrible disease....nothing to ask dumb questions about..I hope it never happens to you. My mother has dymensia and parkinsons, she has been in either a nursing home or hospital for 5 years, it is a wicked disease