National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Behr syndrome


Other Names:
Optic atrophy, infantile hereditary, Behr complicated form of; Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; OBSOLETE: Behr syndrome
Categories:
Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability.[1][2] 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.[1] Treatment depends on the specific signs and symptoms seen in the patient.[2]
Last updated: 6/26/2016
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.[1] The neurological signs typically progress throughout childhood and become more prominent in the second decade.[2413][2] Carriers (those with just one mutation in the OPA1 gene) may have isolated optic atrophy.[1]
Last updated: 6/26/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Achilles tendon contracture
Shortening of the achilles tendon
Tight achilles tendon
[ more ] 		0001771
Adductor longus contractures 0006366
Autosomal recessive inheritance 0000007
Babinski sign 0003487
Cerebellar atrophy
Degeneration of cerebellum
0001272
Dysmetria
Lack of coordination of movement
0001310
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hamstring contractures 0003089
Hyperreflexia
Increased reflexes
0001347
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Motor delay 0001270
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy 0000648
Progressive
Worsens with time
0003676
Progressive spasticity 0002191
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] 		0000529
Tremor 0001337
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Last updated: 7/1/2020
Many cases of Behr syndrome have been found to result from homozygous or compound heterozygous mutations in the OPA1 gene.[1][3] 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.[4] 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.[3]  
Last updated: 6/26/2016
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: 12/31/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • 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.
  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Behr syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Behr Syndrome. Online Mendelian Inheritance in Man (OMIM). April 8, 2016; http://www.omim.org/entry/210000.
  2. Orssaud C. Behr syndrome. Orphanet. March 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1239.
  3. Kleffner I, Wessling C, Gess B, Korsukewitz C, Allkemper T, Schirmacher A, Young P, Senderek J, Husstedt IW. Behr syndrome with homozygous C19ORF12 mutation.. J Neurol Sci. 2015 Oct 15; 357(1-2):115-8. https://www.ncbi.nlm.nih.gov/pubmed/26187298.
  4. OPA1. Genetics Home Reference (GHR). June 2009; https://ghr.nlm.nih.gov/gene/OPA1.