Hurler Syndrome Disease

baton twirler Syndrome DiseaseHurlers SyndromeIn a persons body every substance is important and should present the remedy amount of itself to function properly. In this case a very r atomic number 18 inherit disease of metabolism is when a person can non break down pertinacious chains of sugar molecules called glycosaminoglycans. This disease is known as Hurlers Syndrome which is part of a larger group of diseases more commonly referred to as MPS. Other names for Hurlers Syndrome are alpha-L-iduronate, Mucopolysaccharidoss Type 1, and MPS1H. Other MPS diseases are Hurler Scheie Syndrome, which is a milder feature of Hurler Syndrome, Maroteaux-Lamy Syndrome, whose features are very similar to Hurler Syndrome and Sly Syndrome, whose phenotype is similar to that of Hurler Syndrome. Unfortunately, there are m any more syndromes within the MPS disease category.Hurlers Syndrome is named after Gertrud Hurler, who was the doctor that described both a boy and a upstart lady with the co ndition in 1919. Dr. Scheie was a consultant ophthalmologist and in 1962 he wrote about some of his patients who were less severely affected than those previously diagnosed by Dr. Hurler. Those patients who could not be clearly diagnosed as either the severe or milder end of the disease were said to entertain Hurler Scheie Syndrome.When you have got Hurlers Syndrome, your body does not tell on a substance called lysosomal alpha-L-iduronidase. This means that a person without lysosomal alpha-L-iduronidase cannot break down long chains of sugar molecules which are used in the building of link tissues in the body. The sugar molecules are usually found in mucus and in fluid around a persons joints.There is a continuous march in the body of replacing used materials and breaking them down for disposal. What does break down long chains of sugar molecules is a substance called alpha-L-iduronidase enzyme. This is essential in cutting up the mucopolysaccharides called dermatan and hepari n sulphate. The incompletely broken down mucopolysaccharides remain stored in carrels in the body causing progressive damage. A result of not having the alpha-L-iduronidase enzyme is that glycosaminoglycans will build up and damage a persons heart and variety meat. Symptoms of this disease can be mild or very severe.Hurlers Syndrome is a disease inherited from both parents which means that both parents have to pass the gene to their child in order for the child to have the disease and any child of any race can have it. When a child is born you cannot really tell that they have the disease because they appear healthy at birth. Babies may maneuver little sign of the disease, but as more and more cells become damaged, symptoms start to appear. Most of the symptoms are thick coarse facial features with low penniless bridge, halted growth, progressive mental retardation, cloudy corneas, deafness, joint disease including stiffness, heart valve problems, abnormal bones in the spine, ch ronic runny nose, hernia, speech problems, hyper activity, depression, pain, and clawed hands. Most plenty do not notice the facial symptoms until the child is at the age of two. To tell if a person has Hurlers Syndrome, doctors usually do a simple body of water test. The test would show extra mucopolysaccharides, but doctors would not be able to tell what form of MPS that the person has. Thus, Hurlers Syndrome is not diagnosed until many other conditions have been looked into and after which more specific tests have been performed. This is usually done when the child is about six to twenty-four months of age.To treat Hurlers Syndrome, a person would have to have enzyme replacement surgery which helps the body make alpha-L-iduronidase or have a bone marrow transplant to prevent retardation and that only improves some of the symptoms and should be done at a very young age. Scientists state that it is better for a child with the disease to have this surgery at a young age because th ey will have a better chance of living longer. A person can also have a stem cell transplant surgery and if this surgery is successful many symptoms of the disease are stopped. Seventy-five percent of those whose transplants are from siblings or other close family members have a higher rate of survival than those whose donors are not as closely matched. Many children with a heart disease caused by Hurlers Syndrome cannot have these surgeries due to the incident that their heart is not strong enough to help recover after any surgery. Any other treatments that can treat Hurlers Syndrome depend on the organs which are all infected. For those children whose diagnosis came too late in the progression of the disease to be eligible for transplant, there is still some hope in a newly approved enzyme replacement therapy.Young children with Hurlers Syndrome usually end up with nervous system problems and will have the chance of dying at a young age. Experts say that couples with the history of Hurlers Syndrome in their family or any other disease should be tested before they think about having children of their own. right away there is no actual cure for Hurlers Syndrome, but the MPS society is working very hard to find a cure for it. About 1 in 160 people are carriers, which result in about a 1 in 25,000 chance of two carriers meeting. Since this disease is so rarefied the chance of having a partner who is another carrier is very slight provided their partner is not a cousin or other close family member. Since Hurlers Syndrome is a recessive gene there are only 1 in 4 chances that a child will suffer this disease if their parents are carriers. In this case 1 out of 100,000 children are affected with this rare disease. The unaffected children have a 2 in 3 chance of being carriers corresponding their parents, and a 1 in 3 chance of being a normal non-carrier.The oldest survivor of Hurlers Syndrome is currently in his early twenties and is standing strong, however, ar ound people affected with this disease do not live past the age of twelve.