The Genetic Disease Tourette Syndrome Genetic diseases are diseases passed down through heredity and genes. Tourette Syndrome is one of the more common genetic diseases. Although it is made fun of in television and movies, Tourette Syndrome is a very serious disorder. Tourette Syndrome, or TS, is an inherited, neurological disorder characterized by repeated involuntary body movement (tics) and uncontrollable vocal sounds. The cause of TS has not yet been established completely; however scientists do know it's inher ed as a dominant gene or genes. Scientists also know that it stems from an abnormal metabolism of atleast one brain chemical (neurotransmitter) called dopamine. TS causes different symptoms in different family members. A person with TS has a 50% chan of passing the gene to each child with each pregnancy. The sex of the child helps to determine the expression of the gene. There is a 3-4 times more chance of a son having the gene than a daughter. Only about 10% of TS patients get severe enough to quire medical attention. Some cases aren't inherited and are called sporadic TS. There are no absolute figures that exist as far as the number of people in the world suffering from Tourette's because many people living with Tourette's have yet to be d gnosed. The official estimate of Americans suffering from TS is about 100,000 people. TS was first seen in 1825 in the Marquise de Dampierre, a noblewoman, whose symptoms included involuntary tics of many parts of her body and coprolalia(vocal outbursts). Georges Gilles de la Tourette is the French neurologist who discovered and named e disorder in the early 1800's. In 1992, the British Medical Journal published an article by Benjamin Simkin speculating that Mozart had Tourette Syndrome. An Associated Press story about those articles was picked up by newspapers all around the world ausing an international sensation. The article was later retracted, but there's still speculation about Mozart actually having Tourette's. He was reported as having frequent mood swings, tics, sudden impulses and a love of nonsense words. He was also bserved spinning, leaping, fidgeting and performing strange motor movements. Doctors will never no for sure if Mozart really did have TS. Many symptoms exist with Tourette Syndrome patients. They include involuntary body movements called tics. These consist of but are not limited to eye blinking, arm thrusting, kicking movements, shoulder shrugging, and jumping.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Tourette’s syndrome is a disorder where the affected individual will consistently exhibit “tics”. In the majority of cases these ticks are minor in character, it may just be the urge to blink, or make certain facial gestures. Less than 15% of individuals exhibit coprolalia, which is the unwarranted exclamations of profanities or other socially forbidden remarks. Perhaps those in our generation who are aware of Tourette’s syndrome have learned its symptoms through pop culture, which has glamorized (to some extent) the more severe cases of Tourette’s syndrome in YouTube videos or the animated satire of South Park. Most with Tourette’s syndrome have been diagnosed 5-8 years in childhood and experience the waning of the number and severity of tics by the time the graduate high school. For the most part, Tourette’s syndrome alone will not prevent an individual from success in the institutions of society, as it doesn’t affect the intelligence or capability of individuals. These cases, often called pure TS cases, are usually the exception. More often than not, sufferers of Tourette’s syndrome are more limited socially by common comorbid conditions like obsessive compulsive disorder and attention deficit hyperactivity disorders.
described in an essay called “Shaking Palsy” published in 1817 by a London Physician named
The history of Tourette syndrome is very interesting. Hundreds of years ago those with Tourettes were thought of very differently all around the world. In some countries they were worshiped and in some countries they were considered possessed. Also, in other countries they were considered mysterious and unusual.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
disease is known to be passed on from generation to generation in several cases, yet
Unfortunately not much more is known about the etiologies of a disorder. As clinicians we treat based on symptoms, etiology, and individual need. With out knowledge of the etiology it is difficult to treat a disorder. If a person had an injury, you would not put a bandage on him or her without knowing where the bleeding was coming from. More so, if you but bandages all over him or her blindly, trying to find the injury, you may never resolve the bleed. Regarding stuttering, we are trying to resolve a disorder with only one eye open. Although we have an idea of possible etiologies, we cannot fully understand the extent of the disorder. Thus the proper treatment may only be the surface to a deeper more complex
The most common tic disorder is named Tourette syndrome, where both physical and vocal tics can take place during the same period o...
Tourette syndrome is a neurological disorder which becomes evident in early childhood or adolescence. The first symptoms usually are involuntary movements (tics) of the face, arms, limbs or trunk. These tics are frequent, repetitive and rapid. The most common first symptom is a facial tic (eye blink, nose twitch, grimace), and is replaced or added to by other tics of the neck, trunk, and limbs. the author dwells much more on how his colleague, and those around him, has adjusted to the tics caused by Tourette's syndrome. Tourette’s affect perhaps one person in a thousand. The author of the book studies Dr. Carl Bennett, and explains in his book that this syndrome is like an obsessive. Bennett’s tics happens suddenly, and he touches his mustache to check for symmetry, his glasses to check for balance, and as Bennett said, “The touching has to be symmetrical.” As he explains, when they got into Bennett’s house, he patted his dogs, and his sons ran out, and then he patted their heads, too, in
Tourette Syndrome (TS) is characterized by an inability to control movement, which many times involved hyperactivity, irregular motor patterns, learning difficulties, vocal tics, and OCD. It is thought to be onset by a malfunctioning of the basal ganglia and other cortical circuitry, which leads to motor patterns being disorganized within the patient’s brain. This study aims to examine the motor activation of a TS individual through a functional MRI scan while performing voluntary movements. The researchers hypothesized that because TS is characterized by involuntary movements, they would find less activation in the Supplementary Motor Area (SMA), which normally would co-ordinate, prepare, and execute movements. In this study, the researchers
Andres, M. L. (2006). Tourette Syndrome. In The Gale Encyclopedia of Medicine. (Vol. 5, pp. 3736-3739). Detroit, MI: Thompson Gale.
The study of Tourette Syndrome is a very ongoing but new topic, and doctors are constantly disproving previous research and ideas. As doctors believed that the disease was originally a weakness in the human body that had the inability to resist these convulsions and twitches, it was quickly replaced with the label as a psychiatric disease, however the treatments proved otherwise. Tourette Syndrome was quickly recognized as something more, stated by Doctor Oliver Sacks, ”But all these views are
Genetic disorders are abnormalities of the human body, caused by mutations in DNA. These mutations are random, unless caused by the environment. There are three categories of genetic disorders: single-gene disorders, chromosome abnormalities, and multifactorial disorders. As said by Richard Twyman, “Single-gene disorders are caused by defects in one particular gene, and often have simple and predictable inheritance patterns (http://genome.wellcome.ac.uk/, 2003). ”
There are many interesting disorders out in the world. One that is most interesting to me it Tourette’s syndrome (TS). Georges Albest Edouard Brutus Gilles de la Tourette (1857-1904) was the first person to describe the condition and its symptoms. He was a French physician and neurologist. In 1885 he published an account of 9 patients (Nordqvist, 2015). It is currently being further investigated and conducted with experimental research. It is quite hard to treat because the symptoms are very unpredictable. One specific cause cannot be linked directly to TS as of right now. Scientists are hopeful that as time goes on it be clear if treatments and drugs can truly help Tourette things to be explored in this paper will include