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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ring chromosome 20


Other Names for this Disease
  • Chromosome 20 ring
  • Ring 20
  • R20
  • Ring chromosome 20 syndrome
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Treatment

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How might ring chromosome 20 be treated?

Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. ‘Broad spectrum’ AEDs are usually tried first since they are active against different seizure types. This includes valproatelevetiracetamlamotriginetopiramate and zonisamide. Success has been reported in some people with a combination of valproate and lamotrigine, but so far no single therapy has worked for everyone. 

Vagus nerve stimulation
 (VNS) has been tried and a reduction in seizures has been
reported in some cases but not in others. This involves implanting a medical device
under the skin, similar to a pacemaker that delivers a mild electrical current to the brain via the vagus nerve. The long-term effectiveness of VNS therapy is not yet known. 

The ketogenic diet, which is high in fat and low in carbohydrate, has been shown to be
helpful in other types of epilepsy. However there are no published reports about whether this is successful or not in ring chromosome 20 epilepsy.[1]

For more information on treatment of seizures in people with R20 and general information on ring chromosome 20, visit the following link from Unique, The Rare Chromosome Disorder Support Group, a non-profit organization that supports chromosomal disorders. 
http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf
Last updated: 1/26/2016



Other Names for this Disease
  • Chromosome 20 ring
  • Ring 20
  • R20
  • Ring chromosome 20 syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.