Behr syndrome

Title

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

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary Summary

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

Symptoms Symptoms

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	Tremors	0001337

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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

Treatment Treatment

Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery.

Last updated: 7/15/2010

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Organizations Organizations

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.

Organizations Supporting this Disease

euro-ATAXIA (European Federation of Hereditary Ataxias)
Website: https://www.euroataxia.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

Behr Syndrome. Online Mendelian Inheritance in Man (OMIM). April 8, 2016; http://www.omim.org/entry/210000.
Orssaud C. Behr syndrome. Orphanet. March 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1239.
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.
OPA1. Genetics Home Reference (GHR). June 2009; https://ghr.nlm.nih.gov/gene/OPA1.