Medical Definition of Refsum disease

1. 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. (12 Dec 1998)

Lexicographical Neighbors of Refsum Disease

refringences
refringencies
refringency
refringent
refringes
refront
refronted
refronting
refronts
refroze
refrozen
refry
refrying
refs
refsum's disease
refsum disease (current term)
reft
refudiate
refudiated
refudiates
refudiating
refuel
refuelable
refueled
refueler
refuelers
refueling
refuelings
refuellable

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