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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 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 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 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 type of inherited condition is Refsum disease?
Refsum disease , also called hereditary motor and sensory neuropathy (HMSN) IV, shows autosomal recessive inheritance, and is caused by mutations in the PAHX/PHYH or PEX7 genes
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 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.
