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Glossary for Gangliosidosis generalized GM1, type 1

  • 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.
  • Decerebrate rigidity: is a condition of increased muscle tone and stretch reflexes, particularly in extensor muscles
  • Dysostosis: Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hydrops fetalis: Abnormal accumulation of fluid in the fetus which can be fatal. Excessive fluid leaves the blood and enters the tissues. It can have non-immune and immune (mother's immune system destroys fetal red blood cells).
  • Hyperreflexia: An exaggerated reflex of the muscles
  • Hypertrichosis: Hypertrichosis is an overgrowth of hair not localized to the androgen-dependent areas of the skin
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Macroglossia: Abnormally large tongue.
  • 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.
  • Reduced muscle tone: Reduced muscle tone is a loss of or less than normal amount of muscle tightness.
  • Restrictive cardiomyopathy: A condition which is characterized by restriction to the function of the walls of the heart
  • Scoliosis: Sideways curvature of the spine
  • Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.

 

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