Genetic Mutation Diseases

Genetic mutation diseases are caused by alterations to genes within DNA according to the National Institute of Health. Some genetic mutation diseases are caused by environmental factors such as smoking and other genetic mutation diseases occur randomly. Other genetic disorders are inherited at birth and are passed down from generation to generation. Families with a history of genetic mutation diseases can have genetic testing done to determine if a future child will have a genetic mutation disease. Some of the most common types of genetic mutation diseases include angelman syndrome, celiac disease, canavan disease, down syndrome, and hemophilia.

Angelman Syndrome

• According to the National Institute of Neurological Disorders and Stroke, Angelman syndrome is a genetic mutation disease that causes severe developmental delays. If a child is born with Angelman syndrome, she may not ever learn how to talk or walk. When children with Angelman syndrome are first born they appear normal, but as they age, developmental delays become obvious after six to twelve months. There is no treatment, and people with Angelman syndrome often need seizure medication. They often have a normal lifespan.

Celiac Disease

• According to the Mayo Clinic, celiac disease is an autoimmune disease that is inherited at birth. If people with celiac disease eat foods that contain gluten, then an immune system within their small intestine gets triggered. This causes damage to the surface of their small intestine and makes it extremely difficult for them to absorb certain types of nutrients afterwards. Symptoms of celiac disease include intermittent diarrhea, abdominal plain, and bloating according to the Mayo Clinic.

Canavan Disease

• Medline Plus explains that canavan disease is an autosomal recessive trait that is inherited at birth. People with canavan disease lack an enzyme known as aspartoacylase which results in the buildup of a substance known as N- cetylaspartic acid within their brain. As a result, white brain matter deteriorates, which ultimately leads to the death.

Down Syndrome

• According to the Mayo Clinic, Down syndrome is a condition where an individual has is when an individual has 47 instead of 46 genes which results in severe mental retardation, developmental delays, as well as other problems. Out of all the severe learning disabilities, Down syndrome is the most common among children. Approximately one out of every 700-800 children are born with this condition. Symptoms include flattened facial features, small head, upward slanting eyes, unusually shaped ears, poor muscle tone, short fingers, and excessive flexibility, according to the Mayo Clinic.

Hemophilia

• The Mayo Clinic explains that hemophilia is a genetic disorder that affects the body's ability to form blood clots. Blood clotting is extremely important because blood clots are necessary for stopping a cut from bleeding. People with hemophilia will bleed for a much longer time than people without the disease. Hemophilia is a disease that lasts through a person's entire life, but with proper treatment individuals with hemophilia can lead long and full lives.