Von Recklinghausen 's Disease : An Autosomal Dominant Disorder

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

The cause of the disease is a genetic disorder that causes oligodendrocytes to remain immature and then die, thereby not completing the synthesis of myelin sheaths. The mutation is in the gene that synthesizes an enzyme called aspartoacyclase.

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.

The article I read discussed a genetic disease known as Shwachman-Diamond-Bodian syndrome otherwise known by its abbreviation SDS. The characteristic dysfunction of the disease itself is weakened bone marrow functionality noted by an insufficiency within the pancreas causing malabsorption of nutrients. In most severe cases, congenital thoracic dystrophy may be noted. In the case of this article the authors use a new born baby to discuss the findings about and the expressions of shwachman-diamond-bodian syndrome.

According to the National Hemophilia Foundation (.n d.), people with VWD experience recurrent nosebleeds, easy bruising and extreme bleeding for the duration of and after invasive procedures, such as tooth removals and surgery. Women often experience menorrhagia, heavy menstrual periods that last lengthier than usual, and hemorrhaging after giving birth. The signs and symptoms depends on the severity of the disease.

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

Schindler disease type III is intermediate in severity between types I and II. Affected individuals

Siblings, parents, and children of a person with fibromyalgia are eight times more likely to have fibromyalgia than those who have no relatives with the condition. There are several genes that have been suspected to play a role in fibromyalgia. Fibromyalgia is not directly inherited, it appears to cluster within families. Some researchers believe that stress and poor health can lead to having fibromyalgia. Others believe that muscle “microtrauma” leads to an ongoing cycle of pain and fatigue.”There have been some studies that link fibromyalgia to sudden trauma to the brain and spinal cord. Keep in mind, though, theories about what causes fibromyalgia are merely speculative” (Fibromyalgia Causes,

For example, Wiskott-Aldrich and Beckwith-Wiedemann syndrome are known to alter the immune system. The immune system is a complex system that functions to protect our bodies from infection and disease. The bone marrow produces cells that later mature and function as part of the immune system. One theory suggests that the cells in the bone marrow, the stem cells, become damaged or defective, so when they reproduce to make more cells, they make abnormal cells or cancer cells. The cause of the defect in the stem cells could be related to an inherited genetic defect or exposure to a virus or toxin. Exposures to certain viruses Epstein-Barr virus and HIV, the virus that causes AIDS, have been linked to an increased risk of developing certain childhood

These include motor neuron disease, corticobasal syndrome, progressive supranuclear palsy and FTDP-17 (FTD with parkinsonism linked to chromosome 17).

Thiamine is an essential vitamin needed by all cells in the body. When the body lacks thiamine for an extended period of time, many problems arise, mainly in the brain and heart. Alcoholism and malnourishment are two of the leading causes of thiamine deficiency. Although fairly rare, Wernicke-Korsakoff syndrome (WKS) can be a severe consequence of thiamine shortage. WKS is a neurodegenerative disease that affects the brain and disrupts the neuronal signaling. Not only does it make daily life very difficult, it can become life-threatening and cause permanent damage. The lack of thiamine interrupts many biochemical pathways in the body, including the pentose phosphate pathway, glycolysis, and the Citric Acid cycle. Disrupting these pathways causes WKS to present along with multiple other complications.

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.

Neurofibromatosis is a genetic disorder that causes tumors to form in the brain, spinal cord, and nerves. There are 3 types of this disorder. Type 1 usually appears in childhood, while type 2 and 3 appear in early adulthood. Type 3 can cause chronic pain throughout the body. Some cases may not require treatment other than careful observation. Other cases may require chemotherapy, radiation therapy, or surgery. In this essay i will explain the causes of the disorder, symptoms, treatment, and a day in the life of that person

My genetic disorders name is Alzhemiers Disease. It causes the person to lose memory.The people over 60 can have this disease. It cause the person also to have confusion. Other names for this disease is AD, Alzhemier dementia,and DAT. The things that can cause the disorder is. Is having brain cell death, the tissue will start having fewer nerve cells,and the brain size will start to shrink. The prenatal tests show that there will be a high risk for mutations. It is unlikely performed unless of the family members are diagnosed. They treat it by doing blood tests and Urine tests. They also rule out possible causes. It can be prevented by salmon,tuna,and trout. The medical assistance children need Safety at home, Benefits of exercise,and Eating

The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly