Refsum Disease, Adult

Background and History: 

Sigvald Benhard Refsum a Norwegian physician first reported this condition and recognized its hereditary nature in 1946.  Today we recognize both an adult and an infant form of the disease named after him.

Clinical Correlations: 

Nightblindness with onset in childhood is often the first symptom and with this the side vision becomes constricted.  Other symptoms of the adult form of Refsum disease appear sometime in the first to third decade of life with the onset of neurological difficulties.  Some people do not experience symptoms until their 40s or 50s.  The major features are neurological in nature with weakness in the limbs, poor reflexes, unsteadiness (ataxia) and often numbness.  Many patients have progressive deafness and loss of smell.  The skin may become dry and scaly and heart problems such as irregular heartbeats are relatively common.  Some of the bones in the fingers and toes are shortened.    There is a wide range of clinical disease among individuals with this disease and few have all of the symptoms.


This is an autosomal recessive disorder which requires the presence of two mutations, one from each parent, before the disease appears.  The family pattern of affected individuals is usually horizontal.

Diagnosis and Prognosis: 

The diagnosis requires a multidisciplinary approach primarily by neurologists and ophthalmologists.  Cardiologists should also be involved for the irregular heartbeats can lead to a fatal outcome and treatment can be beneficial.  An excess of a substance called phytanic acid seems to produce many of the symptoms of this disease and a diet low in this material (found in many beef and dairy products) can lead to an improvement in many of the neurological symptoms although it this is of limited benefit for the deafness and vision problems.  Such restricted diets must be initiated as soon as possible to obtain maximum benefit.

Additional Information