Refsum disease has also been called Refsum-Thi?baut disease and Refsum-Thi?baut-Klenk-Kahlke disease
Refsum's disease affects the nervous system, eyes, bones, and skin.
One of the earliest symptoms in Refsum disease that the patients develop is night blindness.
Refsum's disease has a recessive pattern of inheritance and affects populations from Northern Europe, particularly Scandinavians most frequently.
The Norwegian neurologist , Sigvald Refsum first described the disorder in 1946.
The diagnosis for Refsum disease is made based on the development of clinical manifestations and biochemical analysis detecting elevated phytanic acid in the blood.
Refsum's disease is caused by a deficiency of phytanic acid hydroxylase, an enzyme that breaks down a fatty acid called phytanic acid.
Refsum disease is an extremely rare disorder that affects males and females with equal frequency. It has been observed in Norwegian populations as well as others.
People with Refsum disease typically experience progressive hearing loss due to nerve damage that occurs early during development
Cerebellar ataxia (brain-damage-related loss of motor coordination) can also occur with Refsum disease, leading to an unsteady gait.
Refsum disease is inherited as an autosomal recessive disorder, which means that two unaffected carrier parents have a 25% chance of having an affected child in every pregnancy.
The prognosis for Refsum disease is highly variable. Without treatment, the prognosis is poor. In patients who are treated appropriately, many neurological symptoms and ichthyosis (scaly, dry skin) generally disappear.