Glossary

This page is a work-in-progress of some of the medical jargon we use here on the site.  I will add to this as I either learn more terms, or remember them as we go.

  • Aspiration When food or liquid “goes down the wrong way” into the lungs.
  • Ataxia Altered gait or movement, a sign of a lack of coordination due to neurological impairment
  • Bolus The administration of a drug or compound to raise levels in the blood to an effective level.  With tube feeding, it’s basically the equivalent of having a meal.
  • Cerebral Spinal Fluid (CSF) A clear fluid produced in the brain that acts as a cushion for the brain and spinal cord.  High CSF pressure (above 20 cmH2O) can be a sign of hydrocephalus, and can also be a side effect of minocycline.  GM1 patients are at risk for hydrocephalus.
  • Dysphagia Difficulty swallowing.  If left untreated, Armand would be at risk for aspiration and possibly pneumonia.
  • Dystonia A movement disorder in which the body suffers muscle contractions into twisting and abnormal postures.
  • Enzyme A molecule used as a catalyst for chemical reactions within the body.  Armand is deficient in the enzyme beta-galactosidase.  Because his disease is mainly in the brain and spinal cord, enzyme replacement or enzyme injections will not work.
  • GM1 Gangliosidosis A rare genetic disorder that progressively destroys nerve cells in the brain and spinal cord.  A deficiency in the enzyme beta-galactosidase, which breaks down the substance GM1 ganglioside in the cells.  A build-up of this lipid becomes toxic to the cells.  This disease is referred a kind of lysosomal storage disorder.
  • Ketosis Starving the body of carbohydrates until glucose levels are depleted, then the body turns to using fat for energy.  A ketogenic diet uses high fats and proteins, and sugar substitutes (like stevia) to treat seizures and for weight loss.  Atkins is an example of a ketogenic diet.
  • Lipid A classification for a broad range of naturally-occurring molecules that serve several function for the cells of the human body, including energy storage, signaling between cells, and the structure of the cell membrane itself.  Fats, fatty acids, -sterols (like, cholesterol), and steroids are all forms of lipids.
  • Miglustat (or Zavesca) A synthetic drug used in substrate reduction therapy, FDA approved for Gaucher’s Syndrome, but also is being investigated for use with Tay-Sachs and cystic fybrosis patients.
  • Mucopolysaccharides (also known as Glycosaminoglycans or GAGs) A group of carbohydrates necessary for life.  Like lipids, they can build up in tissue cells until they become toxic.  Although seen more in patients with Morquio’s syndrome, GM1 patients can also have a buildup of the GAG Keratan sulfate in body tissue.
  • Postictal The altered state of consciousness following a seizure.  This can include confusion, drowsiness, nausea, and disorientation.  For Armand, he generally is drowsy and can sleep for an hour or more.
  • Spasticity Is a feature of altered skeletal muscle performance in muscle tone involving hypertonia; it is also referred to as an unusual “tightness”, stiffness, and/or “pull” of muscles.
  • Stoma Technically meaning any hole in the body (your mouth, for instance), for this writing the stoma refers to the hole in Armand’s abdomen that leads directly to his stomach.  The feeding tube enters in and drips his formula directly to the stomach, bypassing the esophagus.
  • Substrate The chemical upon which an enzyme acts.  Usually in my writing, the term substrate is used to describe the leftover lipid that hasn’t been broken down.  In substrate reduction therapy, we try to reduce the amount produced naturally in Armand’s body.
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4 Responses to Glossary

  1. Pingback: Day One | Armand's Hope

  2. Pingback: In Layman’s Terms, Part Deux | Armand's Hope

  3. Pingback: And To Top Things Off… | Armand's Hope

  4. Pingback: Days 1 & 2 In Review | Armand's Hope

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