Rare Rheumatology News

Disease Profile

Lennox-Gastaut 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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Infancy

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ICD-10

G40.4

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.

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)

Encephalopathy of childhood; Epileptic encephalopathy Lennox-Gastaut type

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability.[1] This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found.[1][2] Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.[2]

Symptoms

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
80%-99% of people have these symptoms
EEG with focal sharp slow waves
0011195
Encephalopathy
0001298
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
30%-79% of people have these symptoms
Abnormality of brainstem morphology
Abnormal shape of brainstem
0002363
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Atonic seizure
0010819
Atypical absence seizure
0007270
Autistic behavior
0000729
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Falls
0002527
Generalized tonic seizure
0010818
Hyperactivity
More active than typical
0000752
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline

[ more ]

0001268
Myoclonus
0001336
Personality disorder
0012075
5%-29% of people have these symptoms
Focal-onset seizure
Seizure affecting one half of brain
0007359
Generalized myoclonic seizure
0002123
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Abnormality of the periventricular white matter
0002518
Autosomal recessive inheritance
0000007
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Enlarged cisterna magna
0002280
Epileptic encephalopathy
0200134
Frontotemporal cerebral atrophy
0006892
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Gingival overgrowth
Gum enlargement
0000212
Global developmental delay
0001263
High forehead
0000348
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation

[ more ]

0006887
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Progressive
Worsens with time
0003676
Psychomotor retardation
0025356
Ptosis
Drooping upper eyelid
0000508
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Tented upper lip vermilion
0010804

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    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

      Organizations Providing General Support

        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.

        Where to Start

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • 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 Lennox-Gastaut syndrome. Click on the link to view a sample search on this topic.

            References

            1. Lennox-Gastaut syndrome. Genetics Home Reference (GHR). September, 2018; https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome.
            2. NINDS Lennox-Gastaut Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). August 27, 2018; https://www.ninds.nih.gov/disorders/all-disorders/lennox-gastaut-syndrome-information-page.
            3. Frequently Asked Questions. LGS Foundation. June 2010; https://www.adultsandlgs.org/faq.html. Accessed 9/17/2013.