Rare Pediatrics News

Disease Profile

West 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.

1-9 / 100 000

US Estimated

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)

Infantile spasm; IS; X-linked infantile spasm syndrome;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures.[1] Many disorders leading to brain injury, such as birth problems, cerebral anomalies, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. [2][3] In some children, no cause can be found.[1] The goals of treatment are to reduce or eliminate seizures, and include several medications, such as corticoids, avigabatrin, and antiepileptic drugs.[2] Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.[1]

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
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

 0002376
Hypsarrhythmia
0002521
Infantile spasms
0012469
Myoclonus
0001336
30%-79% of people have these symptoms
Abnormality of skin morphology
Abnormal skin structure
0011121
Percent of people who have these symptoms is not available through HPO
Choreoathetosis
0001266
Dyskinesia
Disorder of involuntary muscle movements
0100660
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

 0002015
Dyspnea
Trouble breathing
0002094
Dystonia
0001332
Epileptic encephalopathy
0200134
Generalized myoclonic seizure
0002123
Hyperreflexia
Increased reflexes
0001347
Hypertonia
0001276
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

 0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

 0000252
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Ventriculomegaly
0002119
X-linked recessive inheritance
0001419
Do you have updated information on this disease? We want to hear from you.

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

    The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

    Management Guidelines

    • The NORD Physician Guide for West syndrome was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

      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 West syndrome. Click on the link to view a sample search on this topic.

              References

              1. National Institutes of Health. Infantile Spasms Information Page. National Institute of Neurological Disorders and Stroke. February 22, 2011; https://www.ninds.nih.gov/disorders/infantilespasms/infantilespasms.htm. Accessed 3/21/2011.
              2. Glaucer TA. Infantile Spasm (West Syndrome). Medscape Reference. October 16, 2014; https://emedicine.medscape.com/article/1176431-overview#a5.
              3. West syndrome. Orphanet. March, 2007; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=894.