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Glossary for Metachromatic Leukodystrophy

  • Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
  • Brain conditions: Medical conditions that affect the brain
  • Cognitive impairment: General loss of mental or cognitive ability
  • 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.
  • Death: The cessation of life
  • Degenerative conditions: Diseases characterized by a progressive and degenerative decline.
  • Dementia: Various mental impairment conditions.
  • Familial infantile metachromatic leukodystrophy -- late infantile: An infantile form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the brain. The late infantile form of this disease is much more common than the juvenile or adult form.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Muscle rigidity: The occurrence of resistance to passively moving a muscle
  • 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.
  • Peripheral neuropathy: Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness.
  • Speech abnormalities: difficulty in speaking and articulation of words and communication
  • 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.
  • Spinal Cord Disorders: Any condition that affects the spinal cord


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