Fatal Genetic Diseases

DNA strand
DNA strand. (Image: Comstock/Stockbyte/Getty Images)

Genetic diseases result from mutations or abnormalities on chromosomes or genes. Some ethnic groups are at higher risk for some genetic diseases than others, but the diseases can occur in any group, according to the Genetic Disease Foundation. Different genetic conditions cause clusters of different symptoms, and some of these genetic diseases are fatal.

Tay-Sachs Disease

Tay-Sachs disease is an inherited metabolic disorder, and is likely the most well-known genetic disease that affects the Jewish population, according to mazor.net. Individuals with Tay-Sachs lack an enzyme, hexosaminidase A, without which a fatty material builds in cells, particularly nerve cells in the brain, causing damage. Although there can be late-onset Tay-Sachs, it is typically diagnosed in infants. The disease is characterized by severe mental and developmental retardation, which begins suddenly when the child is four to eight months old. The disease is fatal, and death typically occurs between the ages of five to eight years old.

Niemann-Pick Disease (Type A)

Neimann-Pick disease is actually a group of inherited disorders that involve the metabolic system, where large amounts of fatty material, or lipids, start to accumulate on organs like the liver, spleen, lungs and brain, according to the National Institute of Neurological Disorders and Stroke (NINDS). There are various types of the disease, but type A is the most common type, and occurs in infants. Affected infants typically have jaundice, an enlarged liver and profound brain damage. Death typically occurs before 18 months of age.

Trisomy 18 and 13

Healthy individuals have pairs of chromosomes, but in Trisomy 18 and Trisomy 13 diseases, there are 3 chromosomes, or an extra chromosome on the eighteenth and thirteenth chromosome pairs. These are genetic disorders that cause various birth defects, along with severe mental retardation, according to the Lucile Packard Children's Hospital at Stanford. Examples of birth defects include heart defects, misshapen heads and abnormally developed brains. Nearly every organ system of the body is also adversely affected, and 90 percent of babies with these abnormalities die by the age of 1 year old; 5 to 10 percent of these babies survive the first year of life, and it is extremely rare to have long-term survival. Other names for Trisomy 18 and Trisomy 13 are "Edwards Syndrome" and "Patau Syndrome," respectively.

Cystic Fibrosis

Cystic fibrosis, or CF, is a progressive disease that affects the mucus glands. It is a chronic disease, and according to the Human Genome Project Information page, is often fatal, although there have been major advancements in treatment that extend life expectancy. The life expectancy of an individual with CF is approximately 30 years. Organ systems affected by CF include the digestive, respiratory and reproductive systems, and sweat glands. Mucus accumulates in the lungs and intestines, making it difficult to breathe and absorb nutrients, and loss of an elevated level of salt during sweating can cause heart problems. There are medications and treatments to aid in mucus removal and control symptoms of CF, and treatment is typically individualized for each patient.

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