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.
Tourette syndrome is a neuropsychiatric disorder characterized by motor and phonic tics usually starting in childhood and often accompanied by poor impulse control (Chiu, 2013, p.405). The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French woman (ninds.nih.gov, 2013). Tourette syndrome was once considered to be a rare a condition that causes a person to make repeated, quick movements or sounds that they cannot control. These movements or sounds are called tics, but this symptom is only present in a minority of cases.
One out of every 360 children have Tourettes. Tourette’s is a neurological disorder, which means that it takes place in the nervous system. It affects males three to four times more than females. There’s no exact known reason as to why. Symptoms begin at ages three to nine, and typically, the first sign is excessive blinking. This
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
In recent years researchers have made significant advances in the field and have come up with many neuroleptic (antipsychotic) medications to treat the disorder. However along with these medical breakthroughs problems have occurred. The most severe side effect is called Tardive Dyskinesia, literally meaning "late movement disorder." (1) Coined in 1964, it is identified by the involvement of numerous "abnormal, involuntary movements of the orofacial area or extremities." . (2) More specifically, it is characterized by rocking, twisting, jerking, toe tapping, lip smacking, blinking, and most commonly an unusual movement of the tongue. . (1) (2)(3). Interestingly enough, these side effects disappear during sleep. (3)
“In South Africa there are several diseases regarded as sacred—the diseases of the god’s… Tourettes is one of the sacred diseases in Zulu culture where people are so afflicted have been made great leaders socially and spiritually. They have named the disease “Indiki”; the word meaning ‘pulse’ or ‘jerk illness’” (Health Record Center Academic Print).
The other independent variable was the 2 types of finger tapping tasks, usual and unusual, where the usual task involved tapping with the index finger, and tapping with the pinky finger for the unusual task (both with the right hand). In each type of motor task, the tapping speed was measured, which represents the dependant variable. Another dependant variable was the cortical activation within the patient’s brain, which was measured using an fMRI test. The results for the control patient showed, in the unusual task, increased premotor cortex activity (PMA) and SMA. This same activation was slightly different for the usual task, where the PMA was activated much more than the SMA. However, for the TS patient, the high PMA and SMA activation was seen for the usual and unusual tasks. The researchers also noticed that the TS patient showed no tics whatsoever when they were performing either of the tasks. Usually, more SMA activation is associated with increased difficulty of any particular task, when the subject has to actively think about performing the task. So, because the SMA was activated in the TS patient equally for the usual and unusual task, this could suggest that they have to put more effort into “usual” movements than
disease is known to be passed on from generation to generation in several cases, yet
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
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
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
A transient tic disorder is defined as an uncontrollable or abrupt movement and sound which does not relate to normal gestures of a person. Every person has different way to experiences tics disorder and they suffer from uncontrolled noises and movements. Tics disorder occurs frequently in children, and children with transient tic disorder may have some noticeable physical tics. According to the statistics of the American Academy of Child and Adolescent Psychiatry, it states that tics disorder affect up to at least 10% of children during school years (AACAP, 2012).
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
Andres, M. L. (2006). Tourette Syndrome. In The Gale Encyclopedia of Medicine. (Vol. 5, pp. 3736-3739). Detroit, MI: Thompson Gale.
The first sign of TS may be a facial tic most likely in the eye. Each person is different though and tics can start somewhere else. There are 2 types of tics, physical tics (motor tics) and phonic tics (vocal tics). Motor tics include motor movements such as excessive blinking or jerking of any part of the body such as the head. Vocals tics include uttering sounds m such as grunts or squeaks and words or phrases (Nordqvist, 2015). There are also premonitory sensations/feelings before the onset of a tic. Some examples include eyes having a burning feelings that can only be helped by blinking excessively. Stretching or twitching may occur because it helps a growing muscle tension. The throat begins to feel dry and the only thing to do to help that sensation is grunting or clearing the throat (Nordqvist, 2015). Since TS begins at a young age some parents may realize that tics may stop to a minimum while the child is distracted with a separate activity, such as sports, video games or arts and crafts. If a child gets anxious, stressed, fatigued or bored the symptoms of TS can worsen. In some cases by the age of 18 50% of patients with TS can be symptom free (Alvarez, 2015). In some cases TS symptoms are not lifelong but everyone is
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). ”