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 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), and heartbeat abnormalities (cardiac arrhythmias).

Some individuals will have shortened bones in their fingers or toes, or a visibly shortened fourth toe.

Source: NINDS (NIH)1

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Back to: « Refsum disease

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Symptoms may include a degenerative nerve disease (peripheral neuropathy), failure of muscle coordination (ataxia), retinitis pigmentosa (a progressive vision disorder), and bone and skin changes. Refsum disease is characterized by an accumulation of phytanic acid in the plasma and tissues. is a derivative of phytol, a component of chlorophyll.

Source: NCBI, Genes and Disease (NCBI/NIH)2

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The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database.

Signs and Symptoms

Last updated: 1/1/2017

Source: GARD (NIH)3

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Symptoms and clinical features of the condition may include:4 Clinical Features of Refsum Disease:

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More clinical features may include:5 Clinical Features of Refsum disease:

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  1. Source: NINDS (NIH): disorders/ refsum/ refsum.htm
  2. Source: NCBI, Genes and Disease (NCBI/NIH): books/ NBK22208/ 
  3. Source: GARD (NIH): diseases/ 5691/ refsum-disease
  4. Source: Human Phenotype Ontology
  5. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.