what is  mucopolysaccharidoses?
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oooo mucopolysaccharidoses is a rare and complex and potentially deadly disease involving your............................................................................................................................................................binioglastic gland (anus)
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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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Pneumono ultramicroscopic silicovolcano coniosis\n\nit doesn't have to do with volcanos its a lung disease sweetie.
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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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Polycystic Kidney Disease, a progressive, genetic disorder of the kidneys, characterized by the presence of multiple cysts in both kidneys. The disease can also damage the liver, pancreas, and sometimes even the heart and brain. The two major forms of PKD are distinguished by their patterns of inheritance.  Check out the Polycystic Kidney Foundation; they have a TON of info and support materials: http://www.pkdcure.org.  Also:  The NIH - \nhttp://kidney.niddk.nih.gov/kudiseases/pubs/polycystic and the Mayo Clinic - http://www.mayoclinic.com/health/polycystic-kidney-disease/DS00245.  Good luck.
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specialists are trying to cure musclular dystrophy. there might be the chance of healing it with the help of molecular biology and stem cell research. but so far there's no date set where it can be cured. they are trying but nobody knows when they figure it out, could be tomorrow, in 10 years or never.\nhuman genetics just involve soo much that stuff like that is unpredictable, unfortunately.
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go to http://www.granuloma.homestead.com/morphology.html\n&\nhttp://www.cap.org/apps/docs/annual_meeting/presentations/2004/tuesday/VM113_Interstitial_Lung_Disease.pdf\nRegards
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get tested for hughs synrome its the underlying cause
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Marfan syndrome is a genetic connective tissue disorder characterized by unusually long limbs and fingers. The disease also affects other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate — in less visible ways. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.\n\nCause\nMarfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice [1].\n\nMore recently, transforming growth factor β (TGFβ) has been shown to play an important role in Marfan syndrome. Fibrillin-1 binds TGFβ, inactivating it. In Marfan syndrome, reduced levels of fibrillin-1 allow TGFβ to damage the lungs and heart. New treatments for Marfan, using antagonists of TGFβ, are being investigated (Habashi et al., 2006 Science 312(5770):117-21).\n\nDiagnosis\nAlthough genetic testing is available, a diagnosis is usually made solely on clinical findings. A clinical diagnosis uses specific criteria that were established in 1996.[2]\n\n\nEpidemiology\nBecause Marfan syndrome is caused by an autosomal dominant genetic defect, each parent with the condition has a 50 percent chance of passing it on to a child. Most individuals with Marfan syndrome have another affected family member, but about 1/4 to 1/3 of all cases are due to de novo genetic mutations. Such spontaneous mutations occur in about 1 in 20,000 births. Estimates indicate that perhaps 1 in 5,000 people (0.02 percent of the population) have Marfan syndrome. It affects all races and both sexes equally.[3]\n\n\nSymptoms\nThe most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is cystic medial necrosis predisposing to dissecting aortic aneurysm.\n\nMarfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high palates, small jaws, flat feet, stooped shoulders, unexplained stretch marks, and dislocation of the optic lens in the eye (ectopia lentis). Some people with Marfans have speech impediments as a result of the high palates and small jaws.\n\nNearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.[4]\n\nDural ectasia is a major indicator of Marfan syndrome. It is a dilation of the dural sac surrounding the spinal cord.
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Sorry the spellings are wrong.It is like this :-\nPneumonoultramicroscopicsilicovolcanoconiosis.\n\nIt is a type of lung disease caused by small dust particles.
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Hypertrychosis.  I saw it on a CSI episode.
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Evans' Syndrome is an autoimmune disease in which an individual's antibodies attack their own RBCs as well as their platelets. Its overall pathology is therefore effectively a combination of the two autoimmune induced conditions: autoimmune hemolytic anemia and immune thrombocytopenic purpura.\n\nAutoimmune hemolytic anemia is a condition in which the red blood cells that normally carry oxygen and carbon dioxide are destroyed by an autoimmune process. Immune thrombocytopenic purpura is a condition in which the platelets in the blood are destroyed by an autoimmune process. Platelets are a component of blood that contribute to the formation of blood clots in the body to prevent bleeding.\n\n[edit]\nThose Affected\nThe incidence of Evan’s Syndrome is not precisely known. The syndrome is reported to be a complication affecting 4-10% of those persons with a particular type of thrombocytopenia known as autoimmune thrombocytopenia purpura. The syndrome is more prevalent in children than in adults.\n\n[edit]\nSigns and Symptoms\nThe signs and symptoms of Evan’s Syndrome will be a combination of the signs and symptoms of the two underlying conditions. In autoimmune thrombocytopenia purpura the following may be found: Bleeding of skin or mucus lined areas of the body. This may show up as bleeding in the mouth, or purpuric rashes (look almost like bruises), or tiny red dots on the skin called petechiae. Laboratory results will show low levels of platelets\n\nIn autoimmune hemolytic anemia the following may be found: Fatigue, Pale skin color, Shortness of breath, Rapid heartbeat, and/or Dark urine\n\n[edit]\nPossible Causes\nThe cause of the signs and symptoms of Evan’s Syndrome are directly related to the low levels of red blood cells (RBC) and platelets in the blood. These low levels are a result of circulating antibodies that bind to the blood cells and destroy them. Antibodies are made under normal conditions against foreign substances in the body and are therefore very useful in warding off infection. In conditions that are referred to as “autoimmune” the body makes antibodies against itself. In the case of Evan’s Syndrome, it is not currently known what triggers this reaction to happen.\n\n[edit]\nDiagnosis\nThe diagnosis of Evan’s Syndrome is based primarily on laboratory findings, as well as the corresponding physical signs and symptoms. A complete blood count (CBC) will confirm the presence of anemia and low platelets. Additional studies may include a peripheral smear and a Coombs test. A peripheral smear of the blood may reveal evidence of red blood cell destruction or reticulocytosis. Reticulocytes are immature red blood cells and are usually abundant in Evan’s syndrome where there is a need to replace ongoing losses. There are also distinct shapes to certain cells that may be found when a sample of the patient’s blood is viewed under a microscope. In patients with Evan’s syndrome the red blood cells may appear small and globular shaped (then called spherocytes) but will not be fragmented. A Coombs test is used to detect the presence of antibodies against the RBC and is usually positive in immune mediated haemolysis.\n\n[edit]\nTreatment\nThe treatment for Evan’s syndrome will involve close monitoring of hemoglobin and platelet counts. To increase the number of platelets and RBCs in the blood, the patient may be given a corticosteroid such as prednisone. Prednisone will reduce the destruction of the platelets and the RBCs. A certain level of prednisone may need to be taken for the patient's entire life to prevent the levels of platelets and RBCs from dropping. Further treatment may be necessary with immune system suppressing drugs to block the production of the antibodies. To specifically treat the anemia of the syndrome, it may be necessary to provide the child with new RBCs by a blood transfusion. It has not been shown to be effective to transfuse platelets in a similar fashion to treat the t
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I think you might be talking about Synovial osteochondromatosis. Here is a link where you can find out more information about this condition:\n\nhttp://en.wikipedia.org/wiki/Synovial_osteochondromatosis
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This is quite rare!! It's spelled "Glanzmann's", which is why most people have not managed to look it up in the web. \n\nIt has to do with dysfunctional platelets (you do know what platelets are, I assume) that are unable to aggregate due to the lack of a necessary glucoprotein called GPIIb/IIIa. Imagine this glucoprotein as a kind of glue that allows them to stick together when necessary.\n\nPeople with this disease bleed easily and the bleeding is harder to stop. The severity of the disease varies. Treatment can be quite hard because this is a genetic disease. Platelet transfusion may be indicated in an emergency but long term transfusions will cause immunization.\n\nYou'll have to lookup PubMed (www.ncbi.nlm.nih.gov) or other research databases for more information. This is the realm of Blood specialists.
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www.kidskneepain.com\n\nIt is "osgood schlatter's disease or syndrome" and that link will give you lots of good info about it.  I had a friend long ago in high school with that. You really need to go see the orthopedist so your son can get treatment for it because it can be very painful and even crippling, but doesn't have to be as bad as it used to be.\nMy friend strengthened himself by daily trips to a pool where he'd do up and downs on the balls of his feet to strengthen that tendon.  Good luck and tell your son everything will be fine.
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Hyaluronic acid: A viscous slippery substance that lubricates the joints, maintains the shape of the eyeballs, and is a key component of connective tissue. On a more technical level, hyaluric acid is an glycosaminoglycan (formerly called a mucopolysaccharide), a long unbranched polysaccharide (complex sugar), composed of repeating dimeric units of glucuronic acid and N acetyl glucosamine.
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Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side.\nMore details at the source site.