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Glossary for Niemann-Pick disease, type C1

  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Brain conditions: Medical conditions that affect the brain
  • Breathing difficulties: Various types of breathing difficulty (dyspnea).
  • 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.
  • Degenerative conditions: Diseases characterized by a progressive and degenerative decline.
  • Dementia: Various mental impairment conditions.
  • Developmental problems: Physical or mental development difficulty.
  • Dysarthria: Dysarthria is a motor speech disorder characterized by difficulty forming and expressing words that is the result of injury to or pathology of the nervous system.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Muscle stiffness: A difficulty in stretching a muscle
  • Myoclonus: Sudden involuntary muscle twitching or movement.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Supranuclear ocular palsy: Impaired eye movement due to a brain problem. The type of eye movement problems is determined by the location of the brain abnormality.

 

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