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Glossary for Lesch-Nyhan syndrome

  • Arthritis, Gouty: Joint pain and inflammation (arthritis) caused by gout (buildup of urate crystals). The big toe is most commonly affected but other joints may also be affected e.g. foot, ankle, elbow, wrist, knee and fingers. Usually only one joint is affected at a time. The condition is most often seen in older men.
  • Choreoathetosis: Choreoathetosis is the occurrence of involuntary movements in a combination of chorea and athetosis.
  • Crying infant: Crying in an infant
  • Developmental problems: Physical or mental development difficulty.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Huntington's Disease: Inherited disease causing progressive mental deterioration.
  • Hyperreflexia: An exaggerated reflex of the muscles
  • Megaloblastic anemia: A rare blood disorder where insufficient vitamin B12 absorption results in reduced production of red blood cells and increased levels of abnormal, enlarged red blood cells (megaloblasts). Vitamin B12 insufficiency can result from absorption problems or lack of dietary intake of the vitamin or folic acid.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Self-mutilation: A condition which is characterized by self mutilation


 » Next page: Clinical Trials for Lesch-Nyhan syndrome

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