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Diseases » Mucopolysaccharidoses » Glossary
 

Glossary for Mucopolysaccharidoses

  • Additional Heart Sounds: A heart sound that is heard in addition to the normal two beats.
  • Carpal Tunnel Syndrome: Hand or wrist problems; often from repetitive motion.
  • 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.
  • Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
  • Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
  • Head symptoms: Symptoms affecting the head or brain
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Macroglossia: Abnormally large tongue.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Mucopolysaccharidosis II: Disorder of mucopolysaccharide metabolism in juveniles.
  • Mucopolysaccharidosis III: Disorder of mucopolysaccharide metabolism in children.
  • Mucopolysaccharidosis IV: Disorder of mucopolysaccharide metabolism in infants.
  • Mucopolysaccharidosis VI: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
  • Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
  • Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down.
  • Neck symptoms: Symptoms affecting the neck

 

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