Neuromuscular Disorders
Malignant hyperthermia
Jul. 17, 2024
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Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Dravet syndrome is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe.
Children with Dravet syndrome initially show focal (confined to one area) or generalized (throughout the brain) convulsive seizures that start before 15 months of age (often before age one). These initial seizures are often prolonged and involve half of the body and may be followed by seizures that switch to the other side of the body. Other seizure types emerge after 12 months of age and can be quite varied. Status epilepticus—a state of continuous seizure requiring emergency medical care—may occur frequently, particularly in the first five years of life.
Children with the disorder typically have normal development in the first few years of life. As seizures increase, the pace of acquiring skills slows and children start to lag in development behind their peers. Other symptoms can begin throughout childhood with changes in eating, appetite, balance, and a crouched gait (walking).
Most cases of Dravet syndrome are caused by mutation in the SCN1A gene, which is required for the proper function of brain cells. Dravet syndrome is a lifelong condition.
Seizures in Dravet syndrome are difficult to control but can be reduced by anticonvulsant drugs. Some anticonvulsant medications (such as oxcarbazepine, carbamazepine, phenytoin, and lamotrigine) should not be used on a daily basis as they may make seizures worse. A ketogenic diet, high in fats and low in carbohydrates, also may be helpful.
The U.S. Food and Drug Administration (FDA) approved the drugs fenfluramine and cannabidiol to treat seizures with Dravet syndrome in people ages 2 and older.
How can I or my loved one help improve care for people with Dravet syndrome?
Consider participating in a clinical trial so clinicians and scientists can learn more about Dravet syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Dravet syndrome at Clinicaltrials.gov.
Where can I find more information about Dravet syndrome?
Information is available from the following resources and organizations:
Child Neurology Foundation
Phone: 612-928-6325
Dravet Syndrome Foundation
Phone: 203-392-1950
Epilepsy Foundation
Phone: 301-459-3700 or 800-332-1000; 866-748-8008 Spanish
National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish
Content source: https://www.ninds.nih.gov/health-information/disorders/dravet-syndrome Accessed June 22, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.
MedLink®, LLC
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125