Heredopathia Atactica Polyneuritiformis (Refsum’s Disease)

  • W. Kahlke


The first description of heredopathia atactica polyneuritiformis (HAP) was given 20 years ago by the Norwegian neurologist Sigvald Refsum. Main clinical features of this hereditary disorder are symptoms and signs of chronic polyneuropathy with progressive pareses of the distal parts of the extremities and distal muscular atrophy, and cerebellar involvement with ataxia and nystagmus. Deep tendon reflexes are absent. The cerebrospinal fluid protein is always considerably increased while the cell count is normal (albuminocytologic dissociation). Other clinical signs include atypical or (less frequently) typical pigmentary retinitis with night blindness and concentric narrowing of the visual fields, skeletal malformations which are usually symmetrical in approximately 75% of cases, and cardiac involvement which may give rise to various electrocardiographic abnormalities. Further facultative symptoms consist of impairment of hearing and sense of smell, skin changes resembling ichthyosis and other non-characteristic changes.


Phytanic Acid Retinitis Pigmentosa Night Blindness Concentric Narrowing Outer Molecular Layer 
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