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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.
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What is an early warning sigh of Refsum disease?
One of the earliest symptoms in Refsum disease that the patients develop is night blindness.
What is the other name for Refsum disease?
Refsum disease has also been called Refsum-Thi?baut disease and Refsum-Thi?baut-Klenk-Kahlke disease
What regions of the body are affected by Refsum's disease?
Refsum's disease affects the nervous system, eyes, bones, and skin.
What populations are affected by Refsum's disease?
Refsum's disease has a recessive pattern of inheritance and affects populations from Northern Europe, particularly Scandinavians most frequently.
When was information on Refsum disease first available?
The Norwegian neurologist , Sigvald Refsum first described the disorder in 1946.
How is Refsum disease diagnosed?
The diagnosis for Refsum disease is made based on the development of clinical manifestations and biochemical analysis detecting elevated phytanic acid in the blood.
What is the cause of Refsum's disease?
Refsum's disease is caused by a deficiency of phytanic acid hydroxylase, an enzyme that breaks down a fatty acid called phytanic acid.
What are the demographics for Refsum disease?
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.
What is the prognosis for Acrocyanosis?
Acrocyanosis is a benign and persistent disease. The main concern of patients is cosmetic. Left untreated, the disease does not worsen.
What type of hearing problems are part of Refsum disease?
People with Refsum disease typically experience progressive hearing loss due to nerve damage that occurs early during development
What gross motor problems are associated with Refsum disease?
Cerebellar ataxia (brain-damage-related loss of motor coordination) can also occur with Refsum disease, leading to an unsteady gait.
What is the prognosis for Devic syndrome patients?
Although there is no cure for Devic's disease (neuromyelitis optica), it can enter a long indolent period in which the disease essentially does not progress. This is the best hoped-for outcome for Devic's disease.
