Search Results
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is an inherited disorder, and therefore not caused by injury, infection or … factors. People suffering from RP are born with the disorder already programmed into their cells. Doctors can see … to their progressive degeneration. In most cases, the disorder is linked to a recessive gene, a gene that must be …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… genomic variants associated with a hereditary or genetic disorder. … genomic variants associated with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a … genomic variants associated with a hereditary or genetic disorder. …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also … gene is passed down from one generation to the next. The disorder may begin earlier in life and signs and symptoms …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… have suggested that Dercum disease is an autoimmune disorder (a condition that occurs when the body's immune …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… in their 40's to 50's, and 85 percent of men with the disorder have a heart attack by age 60. Women who have …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes …