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Diseases » Refsum Disease » Glossary
 

Glossary for Refsum Disease

  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Bone changes: Changes to the bones as a symptom
  • Brain conditions: Medical conditions that affect the brain
  • Cardiomyopathy: Any disease of the heart muscle
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Demyelination: is a destructive process of removal of myelin
  • Eye twitching: Involuntary twitching movements of the eyes
  • Food-related conditions: Medical conditions related to food ingestion.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hearing impairment: Reduced ability to hear sounds.
  • Impaired vision: Reduced or degraded vision.
  • Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
  • 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
  • Movement disorders: Medical conditions affecting the movement systems, such as walking or tremor.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Night blindness: Poor vision in darkness or dim light
  • 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.
  • Retinitis Pigmentosa: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss.
  • Retinitis pigmentosa: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss.
  • 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.
  • Skin changes: The occurrence of changes to the skin

 

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