West syndrome

Información en español Title

Other Names:

Infantile spasm; IS; X-linked infantile spasm syndrome; Infantile spasm; IS; X-linked infantile spasm syndrome; X-linked infantile spasms; West's syndrome; Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary 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]

Last updated: 6/9/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Choreoathetosis	-
Dysphagia	-
Dyspnea	-
Dystonia	-
Epileptic encephalopathy	-
Generalized myoclonic seizures	-
Hyperreflexia	-
Hypsarrhythmia	-
Intellectual disability	-
Microcephaly	-
Muscular hypotonia of the trunk	-
Spasticity	-
Ventriculomegaly	-
X-linked recessive inheritance	-

Last updated: 9/1/2017

Diagnosis 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 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.

Do you have updated information on this condition? Let us know.

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

ClinicalTrials.gov lists trials that are studying or have studied West syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

Epilepsy Foundation
8301 Professional Place East
Suite 200
Landover, MD 20785
Toll-free: 800-EFA-1000 (800-332-1000)
Telephone: 301-459-3700
Fax: 301-577-4941
E-mail: contactus@efa.org
Website: http://www.epilepsy.com
International Foundation for CDKL5 Research
P.O. Box 926
Wadsworth, OH 44282
Telephone: 330-612-2751
E-mail: http://www.cdkl5.com/Contact/Default.aspx
Website: http://www.cdkl5.com
Intractable Childhood Epilepsy Alliance ((ICE))
PO Box 365
6360 Shallowford Road
Lewisville, NC 27023
E-mail: http://www.ice-epilepsy.org/contact.html
Website: http://www.ice-epilepsy.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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.

Where to Start

The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

NCATS Co-Sponsored Conferences

Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 - Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.

Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909

Co-funding Institute(s): National Institute of Child Health and Human Development

GARD Answers GARD Answers

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My son, who will be 13 years old in July, has West syndrome. I would like to find a doctor in my area who specializes in this condition. Any help would be appreciated. Thank you. See answer

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