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Don’t fight Behr syndrome alone.
Find your community on the free RareGuru App.Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
Source: GARD Last updated on 05-01-20
People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, spasticity, and intellectual disability. Other signs and symptoms that may be present include myoclonic epilepsy, loss of bladder control, and variable pyramidal tract dysfunction (e.g., increased tone in certain muscles, paralysis of voluntary movements, Babinski sign, increased deep tendon reflexes), peripheral neuropathy, dementia, and muscle contractures. The neurological signs typically progress throughout childhood and become more prominent in the second decade. Carriers (those with just one mutation in the OPA1 gene) may have isolated optic atrophy.
Last updated on 05-01-20
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
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
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov 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
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