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Diseases » Mucolipidosis type 1 » Glossary
 

Glossary for Mucolipidosis type 1

  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Fasciculation: A condition which is characterized by involuntary muscular contractions visible under the skin.
  • Impaired vision: Reduced or degraded vision.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Movement symptoms: Changes to movement or motor abilities
  • Myoclonus: Sudden involuntary muscle twitching or movement.
  • Night blindness: Poor vision in darkness or dim light
  • Nystagmus: Involuntary jerky eye movements
  • Sialidosis type 1: A rare inherited condition where deficiency of an enzyme called neuraminidase results in epilepsy, ataxia and vision problems as well as characteristic cherry red spots in the macula of the eye. Symptoms may be exacerbated by factors such as smoking and menstrual cycles.
  • Sialidosis type I: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
  • Tremor: Involuntary trembling most commonly of the hands.

 

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