See Also: refsum's disease(medicine)
disease, refsum's(medicine)
refsum disease(medicine)
Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
Refsum, Sigvald(medicine)
Refsum's syndrome(medicine)
Medicine Lodge Memorial Hospital- Medicine Lodge(health)
Orthomolecular medicine (orthomolecular nutritional medicine, orthomolecular therapy)(health)
medicine(dictionary)
medicine man(dictionary)

refsum disease (medicine)


refsum disease


A chronic progressive peripheral neuropathy which is probably inherited in an autosomal recessive manner. Some of the manifestations of this disorder are atypical retinitis pigmentosa, cerebellar ataxia, and increased cerebrospinal protein levels. Excessive phytanic acid storage has been found in most cases. Onset of symptoms usually occurs in early childhood. Infantile refsum disease (see peroxisomal disorders) differs in that it also includes mental retardation, dysmorphic features, peroxisomal deficiency, and very early onset.