Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

Glossary for Niemann-Pick disease, type A

  • 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
  • Cataplexy: A rare condtion characterized by episodes of severe muscle weakness which can sometimes lead to a complete collapse - it usually occurs in people with a sleep disorder called narcolepsy.
  • 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.
  • 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.
  • Enlarged liver: Swelling of the liver.
  • Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Jaundice: Bile or liver problem causing yellowness.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • 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.
  • Swollen spleen: Swelling or enlargement of the spleen

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise