Can Environmental Changes Effect Jeavons Syndrome Severity? Jeavon’s syndrome is a type of epilepsy. Jeavons Syndrome consists of eyelid myoclonia, generalized seizures with eye closure and photosensitivity. Eyelid myoclonia means uncontrollable fluttering of the eyelids. Photosensitivity means that bright lights trigger the seizures and eyelid flutters. It happens mainly in females. It runs in families but no specific gene has been identified as a cause for it. It is quite rare. It usually manifests in childhood and peaks between 8 to 12 years old. (Wikipedia. https://en.wikipedia.org/wiki/Jeavons_syndrome) I think the tests I plan to do are important for a few reasons. Jeavons Syndrome is very hard to treat. It usually doesn’t respond very
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
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)
At that point in my life, my immune system had been at war with itself for about eight years. My body was killing itself; my kidneys were beginning to shut down. I was severely malnourished because my body could not absorb the nutrients. Conversely, I was overweight due to my body storing everything I ate as fat instead of breaking it down for energy; because of this, I was very lethargic. The new test that was developed saved my life. It was able to determine that I did, in fact, have Celiac Disease, and I would have to maintain a special diet for the remainder of my life.
trait. Some cases however are sporadic, and there may not be a link to family
Epilepsy, also known as “seizure disorder,” or “seizure attack,” is the fourth most common neurological disorder known to mankind, affecting an estimated 2.3 million adults and 467,711 children in the United States. Unfortunately this disorder is becoming far more common and widespread worldwide. This staggering number of cases of people suffering from Epilepsy also involves an average growth rate of 150,000 new cases each year in the United States alone. Generally, many of the people who develop who are a part of the new are mainly either young children or older adults. Your brain communicates through chemical and electrical signals that are all specialized for specific tasks. However, through the process of communication, chemical messengers, also known as neurotransmitters can suddenly fail, resulting in what is known as a seizure attack. Epilepsy occurs when a few too many brain cells become excited, or activated simultaneously, so that the brain cannot function properly and to it’s highest potential. Epilepsy is characterized when there is an abnormal imbalance in the chemical activity of the brain, leading to a disruption in the electrical activity of the brain. This disruption specifically occurs in the central nervous system (CNS), which is the part of the nervous system that contains the brain and spinal cord. This causes an interruption in communication between presynaptic neurons and postsynaptic neurons; between the axon of one neuron, the message sender and the dendrite of another neuron, the message recipient. Consequently, the effects that epileptic seizures may induce may range anywhere from mild to severe, life-threatening ramifications and complications. There are many different types of seizures associa...
American population have this condition, but they also do not know how they got the
6. Anyamwu E, Harding GF, Jeavons PM, "Telephillic Syndrome" In Pattern and PhotoSensitivity Epilepsy: Report of Three Cases. East Afr Med J. 1995;72:402-405.
Many people with epilepsy usually have more than one type of seizure and may have other symptoms of neurological problems as well. The cause of epilepsy varies by age of the person, but the majority of the time the cause is unknown. Common causes of seizures by age in Elizabeth Otte’s case would be congenital conditions (Down’s syndrome; Angelman's syndrome; tuberous sclerosis and neurofibromatosis), genetics, head trauma, and progressive brain disease which is rare (Schechter & Shafer, Ltd., 2013, p.1). The diagnosis of epilepsy is based on medical history of the patients including family history of seizures. They ask several of questions to figure of what type of seizures the patients could possibly be suffering from. Doctors then preform test such as EEG, take blood, and study images of your brain. Epilepsy is treated by a neurologist specialist that may or may not subscribe medication depending on the severity and frequency of the seizures. Also treatment can be a change in the patients’ diet or
This syndrome occurs by natural selection in which the condition arises from chromosomal nondisjunction during meiosis in this process, the 46 chromosomes in the cell separate, ulimatiing producing two new cells having 23 chromosomes each. Before meiosis is completed, however, chromosomes pair with their corresponding chromosomes and exchange bits of genetic material. In women, X-chromosomes pair, in men, the X and Y-chromosomes separate, and meiosis continues. Otherwise it is not something that happens by the law of nature in which you are randomly chosen in its specific frame of how many times it happens, whom it effects, and how it happens. There is really no specific frame in which it invariably happens. It is known through that it happens during the process of meiosis in which chromosomes split.
Epilepsy is a condition characterized by recurrent seizures which are unprovoked by any immediately identifiable cause (Hopkins & Shorvon, 1995). It is also known as a seizure disorder. A wide range of links and risk factors are associated with the condition, but most of the time the cause is unknown. Epilepsy is one of the most common neurological disorders, affecting approximately two and half million people in the US and about 50 million worldwide. Though seizures can occur at any age, epilepsy is most commonly seen in children and the elderly. Most respond well to treatment and can control their seizures, but for some it is a chronic illness. A clinical diagnosis is the first step to finding a potential cure for the disorder.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Characterization of the syndrome often includes staring spells, and unawareness from the young person diagnosed. The eyes tend to roll up briefly or flutter, some experience unintended automatisms, although these spells last from 10 to 45 seconds each, the person usually resumes their normal activity and often has no recollection of the episode. Episodes can occur from 1 to 100 times a day, which makes people with JAE at a greater risk of developing nonconclusive status epilepticus. The differences with this development are significant, and can leave the person with seizures that can last from minutes to hours, along with confusion, irregular responses, and potentially difficulty walking. About ¾ of people with JAE also have generalized tonic-clonic seizures with body jerking and stiffening, which can occur before absence seizures or upon waking, lasting from seconds to minutes. Despite the many episodes and difficulties that come with them, including learning difficulties for children with frequent episodes, people with JAE usually develop normally. 1/3 of children have attention, memory, and concentration problems, although, learning problems often improve after treatment
The exact cause of this health condition is not known and sometime the cause is not clear. It can sometime occur as a result of: