Wernicke-Korsakoff Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Wernicke-Korsakoff Syndrome: This type of dementia is a chronic memory disorder, caused by thiamine. Thiamine helps conjure energy from sugars. When thiamine levels fall to low, brain cells won’t be able to conjure enough energy.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.

Stevens-Johnson Syndrome, a form of Toxic Epidermal Necrolysis, is a rare life-threatening disorder of the skin and mucous membranes which arises from an intense autoimmune sensitivity to mild infections, cancers, and most commonly, medications.

Symptoms present most frequently in the early neonatal period with the signs and symptoms of hyperammonaemia with a wide range of symptom severity 1, 3, 6. These symptoms include: poor feeding, vomiting without diarrhoea, neurological alteration such as hypotonia, abnormal movement of limbs, irritability, generalised seizures, afterward lethargy, and coma 1, 6. Late forms may present with acute attacks of hyperammonaemia in a previously healthy individual or with chronic neurological, gastrointestinal, and psychiatric clinical signs 1, 15. The symptoms could be chronic nausea, vomiting, ataxia, confusion, and irritability, and in acute cases could lead to coma. The laboratory findings show an increase in blood levels of ammonia and markedly elevated concentrations of glutamine and alanine

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect every person differently, and not everyone with it develops the same signs and symptoms. Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm. But assisted reproductive procedures

“Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the outcome of an episode of Wernicke 's encephalopathy, therefore the chronic disorder is sometimes known as Wernicke- Korsakoff syndrome.” Wernicke encephalopathy is an acute brain reaction to severe lack of thiamine. Wernicke encephalopathy is a medical emergency that causes life-threatening brain disruption, confusion, staggering and stumbling, lack of coordination, and abnormal involuntary eye movements.”

Nobody is genuinely knows what causes these sensitivity, but throughout the world Couvade Syndrome has been documented at full length of history in uncounted cultures. Some experts admit that they may be a maneuver to get some attention. But some say it is an expressions of the angst, stress and terror correlate with coming fatherhood, feelings of hesitation of becoming a father or with the identifying of fetus. In the time, others still conceive that Couvade Syndrome is a manifestation of sin for having impregnated a partner, envying the mother's ability to give a child and her birth experience, or responsiveness with the mother's

The show got multiple aspects of Korsakoff syndrome correctly. The woman confessed to the murder of her husband in spite of her inability to remember the act or why she did it. When confronted with questions about her murder by investigators she quickly confessed to the murder and signed confession papers. The doctor came in asked if she had picked up a cat on the side of the road named Millie. She agreed that the event happened and asked how he knew about it. The doctor says she has symptoms of Korsakoff syndrome and that she is extremely suggestible to altered memories and has anterograde amnesia. Anterograde amnesia is the inability to form new memories which seems to be the symptoms she is experiencing. The investigator that works with

This continued until the day of my birth. She had immense cravings for cheesecake. But, never experience morning sickness during her pregnancy with me. She had kept up with her prenatal visits. She took her recommended iron and vitamins on a daily basis.

Wernicke encephalopathy, a disease that alters brain structure, and Korsakoff syndrome, a memory loss disease, are two conditions that frequently afflict victims together. The sickness occurs in individual who lack vitamin B1 most often due to alcoholism but also because of malnourishment. The condition can also occur in individuals with illnesses or after weight reduction surgery.

Korsakov's syndrome is a devastating impairment of recent memory that is caused by a thiamine deficiency which can result from alcohol abuse, mal-absorption, hyperemesis or starvation. Furthermore, other causes of Korsakov's syndrome also include heavy metal poisoning, head injury and tumors. A patient suffering from Korsakov's syndrome will most likely have an extensive pathology in the bilateral hippocampus and will actively exhibit confabulation. Confabulation occurs when a patient creates pseudo-memories about what happened during a forgotten episode. Also, during confabulation the patient's recall of the events of the past seem more imaginative than logical. Fortunately, although the patient may exemplify confabulation there