Behr syndrome

What causes Behr syndrome?

Many cases of Behr syndrome have been found to result from homozygous or compound heterozygous mutations in the OPA1 gene. This gene provides instructions for making a protein that helps determine the shape and structure of mitochondria, the energy-producing centers within cells. The OPA1 protein is made in many types of cells and tissues, including the brain, the light-sensitive tissue at the back of the eye (the retina), muscles used for movement (skeletal muscles), the liver, and the heart. It is unclear why people with mutations in the OPA1 gene develop the symptoms of Behr syndrome.

A few additional cases of Behr syndrome have been attributed to mutations in the OPA3 , C12ORF65 and C19ORF12 genes.

Last updated on 05-01-20

How might Behr syndrome be treated?

There is no specific treatment for people with Behr syndrome. Available treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery.

Last updated on 05-01-20

Clinical Research Resources

Behr syndrome

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. Currently, there are no clinical trials specifically for Behr syndrome; however, there are studies on some of the symptoms of the disorder (e.g. ataxia). To find these trials, click on the link above and enter a symptom as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

Last updated on 04-27-20

Name: euro-ATAXIA (European Federation of Hereditary Ataxias) Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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