Refsum Disease, Adult

What is adult 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, a type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues.

The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include:

  • Deafness
  • Loss of the sense of smell (anosmia)
  • Problems with balance and coordination (ataxia)
  • Dry and scaly skin (ichthyosis)
  • Heartbeat abnormalities (cardiac arrhythmias)

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 symptoms until their 40s or 50s.

ARD is treatable because phytanic acid is not produced by the body but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist, and the sense of smell may not return. Untreated, ARD can lead to sudden death caused by heartbeat abnormalities.

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Learn About Clinical Trials
Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with adult Refsum disease?

ARD is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with the disorder, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about ARD and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with ARD at Clinicaltrials.gov.

Where can I find more information about adult Refsum disease?

Information may be available from the following resources:

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