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Glossary for Triplet Repeat Genetic Disorders

  • Dentatorubral Pallidoluysian Atrophy: A condition caused by an abnormality of the DNA sequence on chromosome 12
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • 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.
  • Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
  • Progressive Spinobulbar muscular atrophy: Genetic disease affecting nerves and muscles
  • Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord

 

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