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Diseases » Infantile Refsum Disease » Glossary

Glossary for Infantile Refsum Disease

Brain conditions: Medical conditions that affect the brain
Deafness: Inability to hear sounds.
Eye twitching: Involuntary twitching movements of the eyes
Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
Hearing impairment: Reduced ability to hear sounds.
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
Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
Nystagmus: Involuntary jerky eye movements
Peroxisome biogenesis disorders: A group of inherited disorders involving the absence or dysfunction of one or more peroxisomal enzymes. Peroxisomes are numerous tiny organs within the cell which are involved in a large number of the body's biochemical reactions.
Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
Refsum disease, infantile form: A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.
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.
Visual impairment: A condition that affects ones vision