DNA repair-deficiency disorder

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DNA Repair-Deficiency Disorder

DNA repair-deficiency disorder (pronounced: dee-en-ay reh-pair deh-fish-en-see dis-or-der) is a group of genetic disorders that are characterized by an impaired DNA repair mechanism. This impairment can lead to an increased susceptibility to cancer and other health problems.

Etymology

The term "DNA repair-deficiency disorder" is derived from the English language. "DNA" is an acronym for deoxyribonucleic acid, the molecule that carries genetic information in all living organisms. "Repair-deficiency" refers to the inability of the body's cells to properly repair damaged DNA. "Disorder" is a term often used in medicine to describe a condition that disrupts normal bodily functions.

Related Terms

  • DNA: The molecule that carries genetic information in all living organisms.
  • DNA repair: The collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.
  • Genetic disorder: A disease caused by abnormalities in an individual's genome.
  • Cancer: A group of diseases characterized by the uncontrolled growth and spread of abnormal cells.

Disorders

There are several types of DNA repair-deficiency disorders, including:

  • Xeroderma pigmentosum: A rare genetic disorder in which the ability to repair damage caused by ultraviolet (UV) light is deficient.
  • Cockayne syndrome: A rare disorder characterized by short stature and an appearance of premature aging.
  • Fanconi anemia: A rare genetic disease resulting in impaired response to DNA damage.
  • Ataxia telangiectasia: A rare, neurodegenerative, autosomal recessive disease causing severe disability.

Treatment

Treatment for DNA repair-deficiency disorders often involves managing the symptoms and complications of the disorder. This can include regular medical check-ups, physical therapy, and in some cases, surgery. In addition, individuals with these disorders are often advised to avoid exposure to certain environmental factors that can further damage their DNA, such as UV light and certain chemicals.

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