Marfan’s syndrome is a disease where the connective tissue in a person’s joints are more elastic than a normal persons. Marfans syndrome can also be called arachnodactyly meaning “spider” which comes from the Greek word, arachne. It was named this since all patients tend to have long limbs. The chromosome that is affected by this disease is called Chromosome 15, which was discovered by scientists in 1991. And research is currently underway to find out the cause of these mutations in the body. Most patients are tall, thin, have long and narrow faces, longer limbs with a protruding or sunken in breastbone, crowded teeth, flat feet and most also have scoliosis. Their connective tissue is affected and becomes abnormal. Connective tissue is classified as tendons, …show more content…
MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can most definitely cause shortness of breath, palpitations and chest pain. Special tests are often used to detect these features. Undiagnosed symptoms can result in death as in the case of, Flo Hyman, a 6-foot-5-inch Olympic volleyball star, who suffered an aortic rupture on tour. Another famous person who is rumored to have the not so common disease was Abraham Lincoln. Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome. To go into further symptoms of Marfans, the descriptions of the various problems have been explained. Nervous system problems can include, fluid surrounding your brain and spinal cord. While a substance called dura covers the fluid. This condition, called dural ectasia, can occur in older people with Marfans. With time, the bones of the spine may wear
According to “Heart Disease and Marfan Syndrome” (n.d.), if the disease is suspected, the doctor will perform a physical exam of the eyes, heart and blood vessels, and muscle and skeletal system. After, a history of symptoms and information about family members will be obtained to determine if you have it. A chest x-ray, an electrocardiogram, and an echocardiogram can also be used to evaluate the heart and blood vessels to detect heart rhythm problems. A transesophageal echocardiogram may also be used, along with an MRI, CT scan, or a slit lamp eye exam to check for dislocated lenses. The various symptoms of Marfan syndrome allow doctors to diagnose the condition and provide treatments that can help the
Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypermobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.). In the Hypermobile type of EDS, the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hypermobility affects large (elbows, knees) and small (fingers and toes) joints. Skin is hyperextensible, smooth/velvety, and bruising occurs easily as well.
Caetlin Asher Spanish 325 10 March 2017 Lack of Separation Between the Church and State The separation between state and Church has been a controversial issue for decades. In the movie “Mar Adentro”, this separation between Church and state, or lack thereof, is brought to attention through the court battle between the state and Ramón Sampedro. Ramón Sampedro was a sailor who became a quadriplegic during an accident diving into the ocean water causing a permanent spinal cord injury leaving him paralyzed. Over twenty years of being paralyzed from the neck down, Ramón decides to receive legal permission to end his life through assisted suicide, specifically Euthanasia.
Impairment and sometimes loss of motor control of the body and its extremities is one of the many effects of this disorder. Patients may complain of headaches, neck pain, coughing, sneezing, dizziness, vertigo, disequilibrium, muscle weakness, balance problems, and loss of fine motor control (1). The senses (hearing, sight, smell etc.) may also be affected in deleterious ways. On can have blurred vision, decreased sensation of limbs, unable to locate them without looking, decreased sense of taste, ringing of the ears etc. (2).
Jackson-Weiss Syndrome is a rare genetic disorder characterized by distinctive malformations of the head and facial area and abnormalities of the feet. The syndrome is very rare for people to get because it happens through genetics which has mutations in the FGFR2 gene that causes the syndrome. Jackson-Weiss Syndrome is a very interesting diagnosis that is inherited, has different features, and surgical procedures.
Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and chondrocytes in the growth plates of developing bone (7, 9). Due to the fact that there are numerous types of skeletal dysplasia, some which appear similar to ACH at times, the only way for complete confirmation is to perform molecular techniques such as genetic testing (1, 4, 8).
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).
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
How many of us wished to have super powers as kids ? I don't mean being strong as hulk, being bitten by a spider to be able to climb buildings like spider man, or be able to fly like birds around the city in the blue sky's. It is known that the human brain can not focus on a single task more than 10%. But there have been some individuals that are capable of this ability. Daniel Tammet have learned one of the most strenuous languages on earth fluently in just 7 days from his interview or Stephen Wiltshire which was capable of drawing the New York city and Rome just by having an one time tour with the helicopter and flying around the city he was able to draw the whole city and mentioning all the details without captivating any pictures or writing any notes. Amazing right? Sadly these talents have their own cost. Most of these indivisible suffer in their daily lives not being able to communicate with others within verbal communication or emotionally, most of them can't even function in their daily lives by their own, dress by them self or even eat a simple lunch not even talking about preparing the food leaving them to intended to live their lives isolated from the society. This rare syndrome i'm talking about is recognized as the savant syndrome. it's an unique condition letting the persons have an intelligence above normal in some ares in life such as musical, mechanical, artistic and mathematical, in exchange of limiting this person emotionally. Savant syndrome touches several people in the world. It can occur after birth or later in any stage of life. It affects both males and females but occurs mostly in males. Many scientists have come with different explanations for the savant syndrome. First it was discovered in 1987 by J.London Down. Also, he was the one that devised and related the disorder with the skill to mention an amazing memory. A study published by Bernard Rimland have states that "the savant skills most often present in autistic people are those associated with right hemisphere functions and the most deficient abilities are associated with left hemisphere functions (Treffer, 2002). This supports prove that the left brain hemisphere model to be correct.
Jonathan Juste 4/21/14 Hum. Bio Analysis of Angelman Syndrome In 1965 , Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
SMA is largely an inherited autosomal recessive disease caused by mutations in chromosome 5q that lead to a deficiency in SMN1-related proteins. In rare instances (2-3% of SMA), SMA can occur de novo rather than inheriting a defective copy of the gene from each parent. This deficiency results in degeneration of motor neurons causing muscle atrophy, particularly in the limbs and the muscles that control the mouth, throat and respiration. There are four types of SMA, types I, II, III, and IV which are defined based on the severity of muscle weakness and the age of symptom onset. SMA type I (Werdnig-Hoffmann disease) is the most severe. SMA type I-affected infants represent approximately 60% of SMA diagnoses and present with the disease by 6 months of age. These infants are profoundly hypotonic and often succumb to complications of the disease by their second year of life. SMA type II affected children (intermediate form) present with symptoms prior to 18 months of age and develop the ability to sit unaided but not the ability to stand or walk. Individuals affected by SMA type III (Kugelberg-Welander disease) are also generally diagnosed by 18 months but are able to stand and walk. SMA type III affected individuals may live into their thirties and
Most often the disease starts in the left ventricle, and then often spreads to both the atrium and right ventricle as well. Usually there will also be mitral and tricuspid regurgitation, due to the dilation of the annuli. This regurgitation will continue to make problems worse by adding excessive volume and pressure to the atria, which is what then causes them to dilate. Once the atria become dilated it often leads to atrial fibrillation. As the volume load increases the ventricles become more dilated and over time the myocytes become weakened and cannot contract as they should. As you might have guessed with the progressive myocyte degeneration, there is a reduction in cardiac output which then may present as signs of heart failure (Lily).
Hutchinson-Gilford Progeria Syndrome is one of the world’s rarest diseases. There have been less than a hundred reported cases worldwide. Although the cause of the disease has been detected, because of its rarity, there is still no known cure for the condition. The life expectancy of a child with Hutchinson-Gilford Progeria Syndrome is 13 years. Many efforts have been made to help find a cure for this disease. The Progeria Research Fund is solely focused on raising funds towards the research for this fatal condition.