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Glossary for Xanthomatosis cerebrotendinous

  • 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
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Cerebellar ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
  • Cerebrotendinous Xanthomatosus: A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholesterol and cholestanol can be found in any part of the body including the brain. The rate of progression and severity of symptoms varying amongst patients. The degree of neurological involvement is also variable.
  • Chest pain: Pain in the chest area.
  • Cholesterol metabolism conditions: Disorders affecting the metabolism of cholesterol or lipids.
  • Death: The cessation of life
  • 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.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head Conditions: Conditions that affect the head
  • Heart attack: Serious and often fatal acute heart condition
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • 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.
  • Shortness of breath: The feeling of being short of breath
  • Vision changes: Any change in vision or sight.
  • Vision loss: Impaired vision or loss of vision
  • Xanthoma: Fatty deposits under the skin causing yellow bumps


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