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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
Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
Hearing impairment: Reduced ability to hear sounds.
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.
Muscle conditions: Any condition that affects the muscles of the body
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 a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties that can lead to central vision loss.
Retinitis pigmentosa: Retinitis pigmentosa is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties that can lead to 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
Vision loss: Impaired vision or loss of vision