Genetically Transmitted Diseases/Disorders

A genetic disease can be the result of mutation in a gene. According to ThinkQuest.org online library there are currently more than 4,000 known genetically transmitted diseases with more being discovered every year. Genetic diseases can be inherited from parents by children. Some genetic diseases are extremely rare, while some genetic diseases are more widespread. 

People who are curious as to their chances of inheriting or passing on a genetic disease can get genetic testing.

Cystic Fibrosis

Cystic fibrosis affects more than 30,000 children and adults in the United States today, according to the Cystic Fibrosis Foundation. It is also life-threatening as it causes mucus to build up and clog organs in the body. Mucus and bacteria build up in airways and cause severe swelling that can lead to lung damage.

According to the Cystic Fibrosis Foundation in order to inherit the disease one must inherit two copies of the defective cystic fibrosis gene. This means the individual must inherit a copy of the defective gene from both parents.

Chronic Granulomatous Diseases

Chronic granulomatous diseases are genetically transmitted diseases in which the immune system is affected and compromised. The immune system cells are not able to efficiently form compounds that are necessary to kill pathogens. This inefficiency leads to granulomas which are ineffective at fighting disease and infection. A granuloma is essentially a small tumor or small area of inflammation. Usually the inflammation is caused from a tissue injury or infection, however in patients with CGD the granulomas are chronic.

According to a study in 2004 conducted by Dr. Maryland Pao, et al., chronic granulomatous diseases affect one in 200,000 people, and there were an average of 20 new cases each year.

Symptoms of CGD can include but are not limited to superficial skin infections, abscesses of the skin tissues and organs, arthritis and pneumonia.

Mucopolysaccaridosis Diseases

Mucopolysaccaridosis diseases are genetically transmitted diseases that affect the functions and abilities of the enzymes to break down sugars. The inability to break down the sugars leads to a build up in the cells and the blood which leads to permanent cellular damage.

Phenlketonuria

Phenlketonuria is a genetically transmitted disease in which the body's ability to metabolize phenylalanine is compromised. When left untreated this genetically transmitted disease can lead to brain damage as well as mental retardation.

When discovered early enough in childhood a special diet can be maintained, and the child can grow with normal brain development. A special diet includes limited amounts of breast milk, cheese and other dairy products as well as limited amounts of meat and chicken, nuts and fish.

Turner's Syndrome

Turner's syndrome is a series of genetically transmitted diseases that affect the chromosomes. There are many different types of syndromes depending upon the chromosomal makeup the individual has inherited. Symptoms of Turner's syndrome can include swelling of the hands and feet, a short stature and broad chest, a low hairline and low set ears, and being reproductively sterile.

It is common for a fetus with Turner's Syndrome to spontaneously abort.

Celiac Disease

According to the Celiac Spruce Association, one in 133 people are affected by celiac disease. The disease can lay dormant until triggered by gluten in food. It is not uncommon for gluten in food to set off a response in a person's body which causes damage to the small intestine which leads to the small intestine being unable to absorb nutrients in food and causing malnutrition.

Contrary to popular belief, celiac disease is not a food allergy and is not age-dependent. Celiac disease can appear or become active at any age