Refsum disease

Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa ...1

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Symptoms of Refsum disease

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the ...2

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Causes of Refsum disease

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid ...3

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Types of Refsum disease

Some types of this condition may include:4 Types of Refsum Disease:

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Genetics of Refsum disease

Refsum disease is inherited as a recessive trait. ...Source: NCBI, Genes and Disease (NCBI/NIH)5 ...

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Treatments: Refsum disease

Is there any treatment? The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma ...6

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Research for Refsum disease

What research is being done? The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research institutions across the country. Research is focused on finding better ways to prevent, treat ...7

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Names and Terminology

Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis ...Source: NINDS (NIH)8 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ refsum-disease
  2. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum/ refsum.htm
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22208/ 
  6. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum/ refsum.htm
  7. ibid.
  8. ibid.

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