Marfan syndrome is not the only genetic disorder that affects connective tissue and has conditions including Thoracic Aortic Aneurysm. Marfan syndrome is a genetic disorder that messes with the connective tissue throughout the body (Marfan Foundation) and was discovered by Antoine Marfan in France back in 1896 (KidsHealth). Features of this genetic disorder are mostly found in the heart, blood vessels, bones, joints, and eyes. (Marfan Foundation) But it affects each person differently. Marfan can be life threatening, as it affects the lungs, skin, and nervous system. Marfan is a change, or a mutation, in the gene that makes Fibrillin. Fibrillin is a protein that plays a huge roll in your connective tissue(NIH). You can only inherit Marfan(NIH),
Not only does it weaken your muscles, but it makes it very difficult to do day-to-day functions. I could not even begin to imagine what it would be like to have this disorder, or to have a child with this disorder. Also, being that it is the most severe form of muscular dystrophy, it would be extremely hard to live with, if not unbearable. To me being wheelchair bound by the early teens would be just horrible, because of all or the sports/activities that child will have to miss out on. The child also lives an extremely short life with cardiac/respiratory failure setting in around the mid to late
A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder.
This results in alternative splicing, which excises exon 20. This creates a frameshift mutation that results in premature termination codon and a truncated IKAP protein. In 4 individuals, heterozygous for FD, an additional missense mutation was found at exon 19, which results in the phosphorylation of the IKAP
Behavioral problems are common and may include hyperactivity, aggressiveness, and restlessness. Coarse facial features, Diarrhea, Full lips, heavy eyebrows that meet in the middle of the face above the nose. Other symptoms may include incontinence, speech and hearing impairment. 4. Biochemical symptom of Sanfilippo syndrome
A lot of individuals have various diseases, and when they get sick, they go to the hospital or the clinic to get a treatment. The scientists have developed cures to most of the known diseases, but they have not found a cure to few diseases. Sam Berns and Lizzie Velasquez are two people with rare diseases that the scientists have not found a cure for them yet. Sam Berns has Progeria, and Lizzie Velasquez has Marfanoid-progeroid-lipodystrophy syndrome. Both diseases have similar effects: unable to gain weight.
Another sign that Jeannie had FOP was when her mother noticed something. Her mother noticed that she couldn’t open her mouth as wide as her brothers and sisters (TGWTB). This scare caused Jeannie’s mother to take her to several different doctors. When Jeannie was four years old, she was diagnosed with Fibrodysplasia Ossificans Progressiva by the Mayo Clinic (TGWTB). Because this is one of the rarest diseases in the world, this name didn’t really mean anything to Jeannie’s mom.
This allow desaturated blood to shunt right to left side, causing desaturation in the left side of the heart and in the systemic circulation causing hypoxia and cyanosis. PULMONARY ATRESIA / PULMONARY STENOSIS Pulmonary Stenosis is the narrowing at the entrance to the pulmonary artery causing right ventricular hypertrophy. Pulmonary Atresia is the severe form of pulmonary stenosis.
Cardiomyopathy can occur from the lack of dystrophin on the heart muscles. Cardiomyopathy makes it difficult for the patient to breathe. The heart becomes weak and swollen. It is not able to pump enough blood throughout the body, which will cause life-threatening results.
Q. how is this disorder diagnosed & tested? A. its really self-diagnosed you don’t need to be a dr. to know if you have the disorder all you got to do is Look down at your hands a feet and check if you have an extra thumb, pinky or big/small toe. As for how its tests there are x-rays, enzyme tests, chromosome studies, and metabolic
It was a disease caused by the Variola virus both type major and minor. It was spread through means of contact such as airborne,bloodborne, and foodborne . Since it was a virus it hacked cells of the body and and reproduced in host cells giving the body terrible effects and symptoms such as permanent red scars/spots , vomiting, fever and colds. It can be tested and confirmed through the use of an electron microscope and through physical findings. . It lasts a duration of couple weeks to a month and during this time makes the person significantly ill.
In 1966, while Dr. Oliver Sacks was on the staff of a New York hospital, he came across some very unusual patients. About a third of all victims died, and others could not sleep and so lost their lives as well. Still others fell into a deep coma in which they spent the rest of their lives. Ultimately, their long illness cost them a great deal because they never grew beyond the time almost fifty years before when they caught the disease.
Abraham Lincoln: Life, Election & Death By Dawn Martin (4631058) American Public University System October 21, 2015 HIST101: American History to 1877 Dr. Janet Rozick Photo Poster of Abraham Lincoln There have been numerous men in America’s history, one in particular that sticks out the most: Abraham Lincoln. Perhaps he was remembered by the populous to be a very tall man standing at 6’4”; nonetheless he was remembered as who he was as a man and our President. Abraham Lincoln was born in a log cabin on February 12, 1809 in Hodgenville, Kentucky (1). His mother, Nancy Hanks, had died when he was only 9 years of age from milk sickness.