Familial Dysautonmia Research Paper

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from each parent.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The genetic variant increases the disease risk but is not a direct cause however. Inheritance change is linked to at least one of the three genes that were discussed above. It affects members of at least two generations and makes up 1% of Alzheimer cases. Most people that have Down syndrome develop Alzheimer’s because they have the extra chromosome 21. Deterministic genes are a direct cause of the disease, those who inherit deterministic genes will likely develop a disorder. Inheritance of the gene may appear in a new family if not it is a 50/50 chance. For example, a child whose mother or father carries a genetic mutation for eFAD has a 50/50 chance of inheriting the mutation. If the mutation is inherited, the child will have a strong possibility of developing eFAD. Most cases of eFAD are inherited and other cases the disease is developed without any specific known cause.

Familial melanoma is a genetic or inherited condition. This means that the risk of having a melanoma can be passed from generation to generation in a family. Ordinarily, each cell has two copies of each gene: one inherited from the mother and one inherited from the father. Familial melanoma follows a dominant inheritance pattern, in which case a mutation happens in only one copy of the gene. As every cell has two copies of each gene, it means that a parent can potentially pass along a copy of his or her normal gene or a copy of the mutated gene. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A related person such as a brother or a parent of the person who has a mutation also has a 50% chance of having the same mutation.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Cystic fibrosis, also known as CF, affects over 30,000 children and adults world-wide. CF is a disease in the lungs and digestive system and is still incurable today. It is a disease that causes thick, abnormal mucus in the lungs, nasal polyps, fatigue, and can also damage organs in a person’s body. According to www.cff.org/aboutcf, over 70% of CF patients are diagnosed at two years of age. Cystic fibrosis is one of the most life-threatening diseases in the United States and is very common amongst chronic diseases. Cystic fibrosis is most commonly diagnosed in young children and sometimes adults.

Familial dysautonomia affects the development of sensory neurons. It affects two important nervous systems: the autonomic nervous system, which controls a persons involuntary actions, and the sensory nervous system, which controls a persons senses. It starts at birth and shortens a victim’s life span drastically. (Genetics Home Reference)

2. What does consanguineous mean? Why is this concept especially important when discussing recessive genetic disorders?

If the disease is of the homozygous variety in a person it occurs in 1 in every 10,000 people. If the disease is heterozygous then in is found between 1 in every 5,000 people and 1 in every 15,000 people. It is more common in Venezuela then anywhere else, although it is discovered in about 240 people per year in the United States. A DNA marker G8 (D4S10) is closely linked to HD and has been identified as being on the # 4 chromosome and can detect Heterozygotes. (Encarta Encyclopedia) The connection between G8 and HD has not been clinically used because it’s a very serious disease. Theoretically a homozygote can be detected parentally. If a female has a child and she is tested positive for HD and has no history of it, then the father as well as the child a bound to end up with the disease. (Textbook

The genetic disorder I want to talk about here is called triple A syndrome. This disorder has three main characteristics: achalasia, Addison disease, and alacrima. Achalasia refers to the lack of lower esophageal sphincter that lets people move food from throat to stomach. Addison disease, also known as adrenal insufficiency, has the features of fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third one is the lack of tear secretion. I think, these three important features of triple A syndrome can also be regarded as the three main symptoms of this genetic disorder. Alacrima is always the first sign that indicates the existence of triple A syndrome because it can be found early in a child’s life that makes children cry with little or no tears. Other characteristics of triple A syndrome develop continually during adulthood. Another thing I want to mention here is that the symptoms of this disorder are different among affected people; even people from the same family may have

Genetic disorders: a terrifying thought and a startling reality. Most genetic disorders, such as cancer, have disastrous connotations, while others, such as albinism, have slightly less harmful effects. The disorder called distichiasis (pronounced dis-tic-key-i-asis) can be part of the latter. This disease, apart of chromosome 16, has few symptoms and even fewer treatments. distichiasis, though able to show up on it's own, is often paired with other genetic disorders that come with harmful symptoms(Lymphedema-Distichiasis Syndrome), and has been known to show up in dogs as well as humans(Distichia or Distichiasis in Dogs).

People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).