Before going into the topic at hand, we must first define leukodystrophy. These are genetic disorders that damage the growth of the myelin sheath, a substance composed of fats and proteins. Metachromatic Leukodystrophy, also termed MLD, comes from the words: meta meaning change, chromatic denoting color, leuko for white matter and dystrophy meaning degeneration. It therefore means the degeneration in the white matter of the brain and a color in the Central Nervous System is found which supposedly should not be there. It affects nerves throughout the Peripheral Nervous System and Central Nervous System. It is not contagious but it can only be passed on through a birth of a child and there is currently no cure for this disorder.
Cause
MLD, a type of lipid storage disease, is the result of a buildup of abnormal lipids that interferes with the normal fats and proteins in the myelin sheath. People who are diagnosed with MLD lack Arylsulfatase-A (ARSA), an enzyme in their blood. Without this enzyme, sulfatides will build up in the white matter of the brain and Central Nervous System which results in permanent damage to nerves. The sulfatides will also build up in the visceral organs and will be expelled at high levels in the urine. MLD can also be caused by a defect in Saposin B, also known as the cerebroside sulfate activator, a protein required for ASA to function properly.
History
MLD was first called Greenfield's disease. MLD was first reported in 1933, credited to Dr. Joseph Godwin Greenfield (1884-1958), a professor of pathology and clinical medicine in London, UK. The first published articles on MLD were in the early 1960's and the first experimental bone marrow transplant treatment was in the early 1980's.
Symptom...
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...patient, and the protein is adopted into the deficient cells, allowing sulfatides in those cells to be broken down. Still, this is only useful for those with very mild neurological symptoms. This treatment can decelerate the disease progression. Researchers are working on improvements in the areas of improved bone marrow transplants, enzyme replacement therapy, gene therapy, and cell line studies.
Works Cited
Metachromatic Leukodystrpophy. (n.d.). In Brave Community. Retrieved from http://www.bravecommunity.com/patients/conditions/metachromatic-leukodystrophy/information/Default.aspx
National Institute of Neurological Disorders and Stroke. 2012. Retrieved from http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm
MLD-101 … A Layperson’s Overview. (n.d.). Retrieved from http://mldfoundation.org/MLD-101-what.html
It is truly remarkable how Randy Pausch and Morrie Schwartz stories are so similar but yet so different. They both seem to have an outlook on life in a positive way, not sad or demeaning. The only crippling difference is the fact that Morrie was at the age that wasn’t abnormal to be sick and Randy was just dealt the cards for a short life. One of Professor Randy Pausch’s many quotes during The Last Lecture makes a similar point between his experience and Morrie’s when he says, “…it’s hard to raise awareness of pancreatic cancer – people who get it don’t live long enough.” ALS is such a rehabilitating disease that scientist have issues pinpointing the causes to even get close to a cure, which didn’t hinder either of their strive to keep going as far as they could.
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Three hundred and thirty-four years later in the future, Carl Landsteiner, a Viennese doctor, performed a very simple experiment with blood in 1901. During his experiment, Landsteiner noticed "clotting in some samples of mixed blood and not others". (Tucker, 10) Landsteiner separated his samples into three groups: A, B, and C, according to how they clotted in his experiment. Today, the blood type C is known as type O blood. When Landsteiner was grouping these blood types, he happened to look over type AB. AB occurs in about 3 percent of the population. Later in 1907, two researchers, Jan Jansky in Czechoslovakia and William Lorenzo Moss in the United
EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified symptoms and signs that are resulted (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
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Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only affect a very small amount of people. Also it isn’t very common so I wanted to learn more about it, which helped when looking for information
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
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Just like lupus, Multiple sclerosis is a chronic immune system disease that affects the central nervous system. The cause of this condition is unknown; however, some of the causes are violent trauma to the head or spinal cord, and or an immune system attack, which causes the body to attack the myelin sheaths around the neurons in the ascending and descending pathways and most of all genetic and environmental factors. Rosner (2008) notes that, multiple sclerosis is the common cause ...
Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.
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