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Genetic and Rare Diseases Information Center (GARD)

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Juvenile myoclonic epilepsy


Other Names for this Disease
  • EJM
  • Janz syndrome
  • JME
  • Myoclonic epilepsy, juvenile, 1
  • Petit mal, impulsive
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Your Question

I have juvenile myoclonic epilepsy. Does the medication that I take help to cure the condition or just treat the symptoms? Will I need to take medication for the rest of my life? If I have children, will they be affected? Is it safe for me to exercise daily?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is juvenile myoclonic epilepsy?

Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures.[1] The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning, especially if they are sleep-deprived. Drinking alcohol and psychological stress may also make these seizures more likely.[1][2] Onset typically occurs around adolesence in otherwise healthy children.[1][2][3] The exact cause of juvenile myoclonic epilepsy remains unknown.[1] Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.[1][3]


Last updated: 1/20/2009

What are the features of juvenile myoclonic epilepsy?

Juvenile myoclonic epilepsy is characterized by myoclonic seizures (sudden jerks of arms and legs) which occur within the first couple of hours after awakening.[1][4] Other keys features include normal intelligence, onset around adolescence, generalized tonic-clonic seizures, family history of the condition, and seizures after precipitating factors such as sleep deprivation or psychological stress.[1]
Last updated: 1/20/2009

What causes juvenile myoclonic epilepsy?

The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance.[1]

In individuals with juvenile myoclonic epilepsy, symptoms can be precipitated by:[1][4] 
  • Sleep deprivation
  • Psychological stress
  • Alcohol and drug use
  • Noncompliance of medication
  • Photic stimulation
  • Menses
  • Time of day - Usually mornings
Last updated: 1/20/2009

Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it?

Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. A number of studies have indicated that juvenile myoclonic epilepsy is an autosomal dominant condition (i.e. 50% risk of inheritance). However, it exhibits incomplete penetrance, which means that some individuals who inherit the juvenile myoclonic epilepsy gene or genes do not express clinical juvenile myoclonic epilepsy. The children of these individuals who have the gene but do not exhibit symptoms may still inherit the genes and express clinically observable disease.[1]

Due to the complex nature of inheritance with this condition, you may benefit from consulting with a genetics professional. This type of healthcare provider can provide you with additional information about diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

   * The American Society of Human Genetics (ASHG) is a professional organization of research and clinical geneticists. The ASHG maintains a database of these geneticists, some of which live outside of the United States. If you are interested in obtaining a list of the geneticists in your area,  please visit the following hyperlink, enter your location into the "Country" search box, and click on "Click to Begin Search".
http://genetics.faseb.org/cgi-bin/ASHG-Search

Last updated: 1/20/2009

How might juvenile myoclonic epilepsy be treated?

Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated.[5] The majority of patients can be well controlled on a single drug, most commonly valproic acid or lamotrigine or possibly topiramate.[6] More details about the medications used to treat juvenile myoclonic epilepsy can be found at the following link.
http://emedicine.medscape.com/article/1185061-treatment 
Last updated: 1/20/2009

Do medications taken for juvenile myoclonic epilepsy cure the condition or just treat the symptoms?

Although some childhood epilepsy syndromes tend to go into remission or stop entirely during adolescence, juvenile myoclonic epilepsy is usually present for life once it develops.[7] It can be controlled with medication, but cannot, at this time, be cured.[3] 
Last updated: 1/20/2009

Will I need to continue to take medications to control my symptoms for the rest of my life?

Juvenile myoclonic epilepsy is not generally associated with successful drug withdrawal.[8] Therefore, life-long treatment is usually necessary. Nonetheless, overall prognosis is generally good.[1] 
Last updated: 1/20/2009

Is it safe for me to exercise if I am affected by juvenile myoclonic epilepsy?

After an extensive search of the resources available to us, we have not been able to identify any information to specifically address this concern. We strongly recommend that you consult your physician with any concerns that you may have regarding the safety of exercise and the effects it might render to your health and condition. You may also wish to address this concern to one of the following organizations which deal specifically with epilepsy.

Epilepsy Foundation
8301 Professional Place
Landover MD 20785-2238
 Toll-free: 800-EFA-1000 (800-332-1000)
Phone: 301-459-3700
Fax: 301-577-4941 
Web: http://www.epilepsyfoundation.org/ 

American Epilepsy Society
342 North Main Street
West Hartford CT 06117-2507
Phone: 860-586-7505
Fax: 860-586-7550
Email: info@aesnet.org
Web: http://www.aesnet.org/
Last updated: 1/20/2009

References