Rare Primary Care News

Disease Profile

Behr syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Optic atrophy, infantile hereditary, Behr complicated form of

Categories

Congenital and Genetic Diseases; Eye diseases

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]

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]

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.

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

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]

Treatment

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.

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.

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.

    References

    1. Behr Syndrome. Online Mendelian Inheritance in Man (OMIM). April 8, 2016; https://www.omim.org/entry/210000.
    2. Orssaud C. Behr syndrome. Orphanet. March 2005; https://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.

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