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What is Adult Refsum Disease (ARD)?

Adult Refsum Disease (ARD) is one of a group of genetic diseases called leukodystrophies, which damage the white matter of the brain and affect motor movements. Due to a genetic abnormality, people with ARD disease lack the enzyme that breaks down phytanic acid, a substance commonly found in foods. As a result, the toxic levels of phytanic acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa) and loss of the sense of smell (anosmia). Some individuals will have shortened bones in their fingers or toes or a visibly shortened fourth toe. Although the disease usually appears in early childhood, some people will not develop the symptoms until their 40s or 50s.

This answer is based on souorce information from the National Institute of Neurological Disorders and Stroke.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.