Gilles de la Tourette Syndrome
How would you like to have a disorder named after you? In 1885 Dr. George Gilles de la Tourette, a pioneering French neurologist, described an 86 year old French nobleman's wife with the condition. After this the disorder became known as George Gilles de la Tourette Syndrome then later it became Tourette Syndrome. That was over a century ago (Tourette 765). That was over a century ago. Now it is estimated that one in every two hundred people show a partial expression of the disorder (Ward 13). Also, approximately one hundred thousand Americans have full blown Tourette Syndrome (Ward 13). A short name for Tourette Syndrome is TS (Inlander 109). A person interested in Tourette Syndrome might examine the definition, causes, symptoms, diagnosis, treatments, and the prognosis of the disorder.
Tourette Syndrome is a neurological disorder (Tourette 765). The cause of TS has been traced to genetic ties. It is handed down from one generation to the next generation and so on and so on. It also has not been known to skip generations. It is passed on by a single autosomal gene in a dominant pattern (Ward 13). Scientists have
been able to trace the disorder to chromosome 4 or 8 as a locus for the TS gene (Ward 13). That means that a child with a parent that has the disorder of TS has a 50/50 chance of receiving the chromosome, gene, with the disorder contained upon it.
Tourette Syndrome has a multitude of symptoms. One category of the symptoms is the twitches, or "tics." "Tics" are such things as rapid eye blinking, shoulder shrugging, rapid head jerking, and quick facial movement (Understanding). Another symptom category of TS is the vocal outbursts. The vocal outbursts include things such as grunting, barking, or the usage of foul or inappropriate language at very high volume levels (Harele). All of the symptoms of TS are uncontrollable actions by the person with the disorder (Harele).
The symptoms aid in the diagnosis of a person to having the disorder but they are not the final determinate factor. Specialists use the symptoms listed above in there diagnosis but they use them on a laboratory level. Those are one of the two main items used by specialists to determine that a patient has TS or not.
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)
Nonspeech signs associated with hypokinetic dysarthria may include characteristics dealing with the face, eyes, hands, arms, and trunk. The individual may have an expressionless look to their face as well as weakness with gestures in the hands, arms, and face that would normally match the person’s prosody when speaking. Overall, their social interaction with others can be emotionless. Eye blinking occurs less frequently than normal and their head gaze does not match where their eyes are looking. These patients swallow infrequently which leads to drooling. A tremor may be present in the jaw, lips, and tongue as well as limited movement during speech even though strength of these structures is often normal.
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.
The four key symptoms of Parkinson’s disease are tremors of the hands, arms, legs, or
...m protect their families from this disease.A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed by either an enzyme test or DNA studies. The enzyme test is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and cells than non-carriers, but babies with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test is able to detect all Tay-Sachs carriers of all ethnic backgrounds.
The most common type of non-neurological manifestations is declining sense of smell, an early symptom not usually recognized by patients. Among other common signs is the disturbance of the Rapid Eye Movements (REM) during sleep. Patients while sleeping could also have abnormal involuntary movements such kicking, hitting and even shouting. There are other symptoms but are less specific for PD like constipation and lethargy.
Tourette's syndrome is a hereditary movement disorder. Its symptoms are by multiple motor and vocal tics (repeated muscle contractions). It is during the childhood and adolescence in which Tourette’s syndrome and its symptoms develop, usually between the ages...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Asperger’s Syndrome which is part of the Autism Spectrum was identified by Hans Asperger and hence it is named after him. People who are diagnosed with Asperger are usually very intelligent. They don’t necessarily have language problems. However, they do have trouble with social interaction.
A proper classification method removes the guess work for diagnosis. It serves as a guide to reach a precise diagnosis. Diagnostic criterion helps the clinician to make an interim diagnosis and clarify it in further assessments.
...e, mouth, face, or whole body; involuntary chewing, sucking, and lip smacking; and jerky movements of the arms, legs, or entire body” (Comer, 2011, p. 379).
Also known as Asperger Disorder, Asperger Syndrome is an autism spectrum disorder characterized by difficulties in non-verbal communication, and social interaction. It is known as a spectrum disorder because of its conditions that affects patients in various ways and degrees. The disorder is named after an Austrian pediatrician named Hans Asperger. Asperger syndrome is a life long form of disability that affects how people process information, how they view the world, and how they relate to the people around them. In addition, Asperger syndrome is always a hidden disability, whereby, one cannot tell that someone has the disorder from the outside. Asperger syndrome prevalence is unknown, since only a few people suffer from this condition, and the number is unknown. Nonetheless, it is more prevalent in males than in females, and in children aged between 2-6 years.