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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 is the prognosis for patients with Refsum disease?
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.
What regions of the body are affected by Refsum's disease?
Refsum's disease affects the nervous system, eyes, bones, and skin.
What are the signs and symptoms of koch's disease?
There are no signs and symptoms in the early stages of Koch's Disease. Koch's Disease is also known as Tuberculosis. Later signs and symptoms include fever, chills, and sweating.
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.
What are the signs of a disease?
symptoms
When was information on Refsum disease first available?
The Norwegian neurologist , Sigvald Refsum first described the disorder in 1946.
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.
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.
The manifestations of a disease are defined as?
Signs and symptoms of a disease.
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.
