Prevalent Genetic Diseases

Genetic diseases are caused by deletions, additions or changes to genetic material in the body. Some of the most prevalent genetic diseases include Angelman syndrome, Canavan disease, celiac disease and Down syndrome. People with genetic diseases have a difficult time living on a day-to-day basis and some genetic diseases result in death. According to the Genetic Disease Foundation, there are over 6,000 genetic disorders that affect people around the world.

Angelman Syndrome

According to the National Institute of Neurological Disorders and Stroke, Angelman syndrome causes developmental delays as well as neurological problems. Newborn babies will not display symptoms of Angelman syndrome at birth. Within the first few months of birth, signs of Angelman syndrome include developmental delays. Seizures usually take place within the first two to three years of life.

There is no way to treat Angelman syndrome, but most doctors prescribe medication to help people with Angelman syndrome prevent seizures. Individuals with Angelman syndrome have severe developmental delays, motor difficulties as well as speech limitations. People with Angelman syndrome live just as long as other people do. Angelman syndrome affects approximately one in 16,000 people.

Canavan Disease

Canavan disease is a condition that's inherited genetically and affects the body's ability to break down or metabolize aspartic acid. According to Medline Plus, Canavan disease results in a lack of the enzyme known as aspartoacylase. Lack of aspartoacylase results in N-acetylaspartic acid building up within the brain. This causes white brain matter to gradually break down. Canavan disease causes the breakdown of the nervous system and almost always results in death. Most babies with Canavan disease die within 18 months and few patients live to adulthood.

Celiac Disease

According to the Mayo Clinic, celiac disease is a digestive condition that's caused by consuming protein gluten. Protein gluten is found in many foods that contain wheat such as pizza and pasta. When people with celiac disease consume foods that have protein gluten an immune reaction is triggered in their small intestine. This immune reaction damages the surface of their small intestine and affects their ability to absorb some types of nutrients. If celiac disease is not treated it can lead to malnutrition, loss of bone density, lactose intolerance, cancer and neurological complications. Risk factors of celiac disease include type 1 diabetes, Down syndrome, autoimmune thyroid disease and microscopic colitis.

Down Syndrome

Medline Plus explains that Down syndrome is a genetic disorder in which individuals have 47 chromosomes instead of the normal number of 46. Down syndrome is usually caused by the 21st chromosome creating an extra copy of itself. According to the American Academy of Family Physicians, 9.2 babies out of 10,000 are born with Down syndrome in the United States. Symptoms of Down syndrome include flattened facial features, protruding tongue, small head, upward slanting eyes, unusually shaped ears, poor muscle tone, short hands, short fingers and excessive flexibility, according to the Mayo Clinic.

Muscular Dystrophy

According to the Mayo Clinic, muscular dystrophy refers to a group of muscle diseases that are genetically inherited. Muscular dystrophy usually results in muscle fibers being damaged and voluntary muscles becoming weaker as the disease progresses. According to the National Institute of Health, between 400 and 600 children are born with muscular dystrophy each year in the United States.

References

• National Institute of Neurological Disorders & Stroke
• National Institute of Health - Angelmans Syndrome
• Medline Plus - Canavan Disease

Resources

• Mayo Clinic- Celiac Disease
• American Academy of Family Physicians
• Mayo Clinic - Down Syndrome