Genetic disorders

Define cystic fibrosis

(CF) is a genetic disorder that is present at birth and affects both the respiratory and digestive systems

Define down syndrome

(DS) is a genetic variation that is associated with characteristic facial appearance, learning disabilities, and physical abnormalities such as heart valve disease.

Define Huntington's disease

(HD) is a genetic disorder that is passed from parent to child. Each child of a parent with the gene for Huntington's disease has a 50-50 chance of inheriting this defective gene. This condition causes nerve degeneration with symptoms that most often appear midlife. This damage eventually results in uncontrolled movements in the loss of some mental abilities.

Define phenylketonuria

(PKU) is a genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing. PKU can be detected by blood test performed on infants at birth. With care for dietary supervision, children born with PKU can lead normal lives. Without early detection and treatment, PKU causes severe mental retardation

What is a genetic disorder?

A genetic disorder, also known as a hereditary disorder, is a pathological condition caused by an absent or defective gene. Some genetic disorders are obvious at birth. Other may become evident at any time in life.

Define hemophilia

Is a group of hereditary bleeding disorders in which a blood-clotting factor is missing. This blood coagulation disorder is characterized by spontaneous hemorrhages or severe bleeding following an injury

Define Tay-Sachs disease

Is a fatal genetic disorder in which harmful quantities of a fatty substance build up in tissues and nerve cells in the brain. Both parents must carry the mutated gene in order to have an affected child. The most common form of the disease affects babies who appear healthy at birth and seem to develop normally for the first few months. Development then slows and a relentless deterioration of mental and physical abilities results in progressive blindness, paralysis, and early death

Define muscular dystrophy

The term used to describe a group of genetic diseases that are characterized by progressive weakness and degeneration of the skeletal muscles that control movement