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Refsum disease has also been called Refsum-Thi?baut disease and Refsum-Thi?baut-Klenk-Kahlke disease
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∙ 13y ago
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What regions of the body are affected by Refsum's disease?
Refsum's disease affects the nervous system, eyes, bones, and skin.
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 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 happens in Refsum disease?
Refsum disease is a rare genetic disorder that affects the ability of the body to breakdown fats, a process called fatty acid oxidation. As a result, a metabolite called phytanic acid accumulates in the blood as well as other tissues.
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 type of genetic disease is Refsum?
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.
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.
