$Unique_ID{BRK03718} $Pretitle{} $Title{Epilepsy} $Subject{Epilepsy Seizures Convulsions Grand Mal Epilepsy (Major Epilepsy or Status Epilepticus) Jacksonian Epilepsy (Focal Epilepsy) Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg-Unverricht Disease, Lafora Disease or Unverricht-Lundborg-Laf Disease) Petit Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure or Myoclonic Seizure) Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome; Petit Mal Variant) Febrile Seizures Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion and Epilepsia Procursiva or Abdominal Epilepsy) Wilson's Disease Kok Disease (Hyperexplexia) Myoclonus Narcolepsy} $Volume{} $Log{} Copyright (C) 1985, 1989, 1990, 1991, 1992 1992 National Organization for Rare Disorders, Inc. 41: Epilepsy ** IMPORTANT ** It is possible that the main title of the article (Epilepsy) is not the name that you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Seizures Convulsions Disorder Subdivisions: Grand Mal Epilepsy (Major Epilepsy or Status Epilepticus) Jacksonian Epilepsy (Focal Epilepsy) Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg-Unverricht Disease, Lafora Disease or Unverricht-Lundborg-Laf Disease) Petit Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure or Myoclonic Seizure) Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome; Petit Mal Variant) Febrile Seizures Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion and Epilepsia Procursiva or Abdominal Epilepsy) Information on the following diseases can be found in the Related Disorders section of this report: Wilson's Disease Kok Disease (Hyperexplexia) Myoclonus Narcolepsy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Epilepsy is a group of disorders of the central nervous system characterized by repeated convulsive (paroxysomal) electrical disturbances in the brain. The major symptoms may include loss of consciousness, convulsions, spasms, sensory confusion and disturbances in the nerves that control involuntary body functions (autonomic nervous system). Episodes of these symptoms are frequently preceded by an "aura." An aura is described as a feeling of uneasiness or sensory discomfort that precedes the onset of a seizure. Epilepsy may take several different forms including: Grand Mal Epilepsy (Major Epilepsy, Status Epilepticus); Jacksonian Epilepsy (Focal Epilepsy); Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg- Unverricht Disease, Lafora Disease, Unverricht-Lundborg-Laf Disease); Petit Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure, Myoclonic seizure); Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome, Petit Mal Variant); Febrile Seizures; and Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion with Epilepsia Procursiva, Abdominal Epilepsy). Symptoms Epilepsy is a group of disorders characterized by electrical discharges in the brain. There are no established factors that bring on an epileptic seizure that are common to all patients. However, visual phenomena such as flickering lights or sunbursts, are frequently cited by people with Epilepsy as preceding an attack. In certain patients the likelihood of having a seizure increases with stress, fatigue, insufficient food intake and/or the failure to take prescribed medications. Epilepsy may be subdivided according to the type of seizures; namely, general and partial seizures. There are further subdivisions within these categories. GENERALIZED SEIZURES. People with Epilepsy who have generalized seizures typically loose consciousness when the seizure occurs. During a generalized seizure electrical discharges occur in both sides (hemispheres) of the brain at the same time. These discharges may be observed by a physician on an electroencephalograph (EEG). An electroencephalography is a diagnostic test that produces a chart of brain wave activity. Shortly before a seizure, people with Epilepsy may have a variety of symptoms and sensations. These may include abdominal and chest discomfort, nausea, dizziness, heart palpitations, headache, impaired speech (aphasia), shortness of breath (dyspnea), tightening in the throat and/or numbness in the hands, lips or tongue. Some patients may experience visual disturbances or hallucinations, or find themselves in a "dreamlike" state. The sense of smell and hearing may also be distorted. Early symptoms (prodromal signs) may precede the seizure attack by hours or weeks and may include irritability and odd mannerisms (i.e., smacking the lips repeatedly). Grand Mal (tonic-clonic) Epileptic seizures typically occur after sudden electrical disruptions in both sides of the brain. Grand Mal seizures may occur repeatedly or only once. Status Epilepticus is a severe form of a grand mal seizure. In this form a series of convulsions continue to take place while the patient is unconscious. Status Epilepticus is life- threatening and requires immediate hospitalization. There are 3 stages to Grand Mal or tonic-clonic seizures. In the first stage, which may last about 30 seconds, the person loses consciousness and may fall down. Spasms of the muscles in the voice box (larynx) may cause the person to scream or cry loudly and contractions of major muscles may cause muscle rigidity or stiffness (tonic contraction). The second stage of Grand Mal seizures may last for several minutes. Violent spasms of muscles may cause the face, head, and/or arms and legs to jerk wildly (clonic spasms). The teeth may be gnashed together and the eyes may roll wildly. Breathing can become shallow and perhaps stop momentarily. These symptoms may be accompanied by a discharge of saliva from the mouth, a bluish coloration of the skin (cyanosis), and a loss of bladder and/or bowel control. In the third or postictal stage, consciousness returns. Recovery may take seconds to hours and is often followed by an extended period of confusion, drowsiness, fatigue and/or excitement. The onset of Petit Mal epileptic seizures usually occurs between the ages of 4 and 12. These seizures rarely occur after the age of 20. Petit Mal seizures are short in duration and may occur often. These seizures are characterized by the loss of consciousness, eye fluttering and the absence of movement (motor activity). Symptoms may be confused with a behavioral disorder or "daydreaming," and this may lead to a delay in the diagnosis of Petit Mal Epilepsy. Epileptic seizures may also occur during infancy. Generalized infantile seizures are characterized by "jackknife" muscle spasms ("salaam" seizures). During these seizures the child's head and torso curve forward as the knees are drawn up toward the chest in a characteristic posture. Infantile seizures may occur in children 3 months to 2 years old. The muscle spasms may last for only a few seconds but typically occur repeatedly throughout the day. Myoclonic (bilateral massive epileptic) epileptic seizures are sudden, brief muscle spasms of the arms and legs or the entire body. Myoclonic jerks may recur rapidly or may be limited to one episode only. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.) PARTIAL SEIZURES. Simple partial epileptic seizures are characterized by symptoms that are related to the specific motor area of the brain (cerebral cortex) that is involved. Partial seizures are typically brief and there is no loss of consciousness. Jacksonian (Rolandic) epileptic seizures begin with twitching in a finger or toe. The twitching may then extend to adjoining muscles. Symptoms of partial epileptic seizures typically occur on one side of the body and the person does not lose consciousness. Partial Epileptic Seizures with mixed symptoms (Complex Partial Epileptic Seizures, Temporal Lobe or Psychomotor Seizures) may be characterized by unprovoked aggressive behavior and other unusual behaviors. There may be an impairment of consciousness. The electrical "storm" or discharges that characterize this type of epileptic seizure usually occurs in the lateral portions of the brain (temporal lobes of the cerebrum). Causes The exact cause of Epilepsy is unknown. Hereditary factors have been suggested as a possible cause in Essential Epilepsy. Some types of Epilepsy occur as a symptom of other disorders, while others are thought to be caused by head injuries. In some families there may be a genetic predisposition to epilepsy, but scientists do not understand the hereditary factors that may make a person vulnerable to getting seizures. The most common causes of recurring seizures in infants include: genetic inborn errors of metabolism; other metabolic disorders; developmental brain defects; injuries occurring a few months before birth or a few weeks after birth (perinatal); and/or a severe lack of oxygen (hypoxia). In children the typical causes of new-onset epileptic seizures can include: inflammation of the membranes that surround the brain and the spinal cord (meningitis); inflammation of the brain (encephalitis); brain abscesses and/or tumors; exposure to poisons or toxins; diseases that affect the blood vessel system (vascular diseases); degenerative diseases of the brain; and/or head trauma. Epileptic seizures that occur in infants or children as a result of an abnormally high fever (Febrile Seizures) generally do not recur. In adults the beginning of epileptic seizures can sometimes be associated with a brain tumor, trauma to the head, stroke, cerebrovascular disease and/or degenerative brain disease. However, in many cases the cause cannot be identified. Affected Population It is estimated that 150,000 people develop Epilepsy each year in the United States. Approximately 75 percent of people who have Epilepsy have symptoms of the disorder before the age of 20 years. Epilepsy affects males and females in equal numbers. Combined together approximately 2 to 3 million Americans have Epilepsy but the majority are seizure free due to effective medications. Related Disorders Symptoms of the following disorders can be similar to those of Epilepsy. Comparisons may be useful for a differential diagnosis: Wilson's Disease is a rare inherited disorder that affects the liver, eyes and neuromuscular system. Symptoms develop due to the excessive accumulation of copper in body tissues, particularly the liver, brain and eyes. Early diagnosis and treatment of Wilson's Disease may prevent serious long-term disabilities. Neuromuscular symptoms of Wilson's Disease generally appear between the ages of 12 and 32 years. These symptoms may include drooling, joint pain (dysarthria), impaired speech (dysphasia), lack of muscle coordination, tremors, involuntary jerky muscle movements, muscle rigidity and double vision. Other late symptoms of Wilson's Disease may include a decrease in cognitive abilities, behavioral changes, kidney stones, depression and other psychiatric disturbances. (For more information on this disorder, choose "Wilson's" as your search term in the Rare Disease Database). Kok Disease (Hyperexplexia) is a very rare inherited disorder of the neurological system. People with Kok Disease have an excessive startle reaction to sudden and/or unexpected noise, movement or touch. When the individual with Kok Disease is startled, the head may arch back and there may be jerking muscle movements (myoclonic jerks). When startled the individual may also fall to the ground in a rigid position. Some people with Kok Disease also experience seizures. (For more information on this disorder, choose "Kok Disease" or "Hyperexplexia" as your search term in the Rare Disease Database.) Myoclonus is a neurological movement disorder in which a skeletal muscle undergoes sudden, involuntary contractions resulting in jerky movements. There are 3 types of Myoclonus: Intention, rhythmical, and arrhythmic. Intention myoclonus is characterized by episodes of involuntary muscle contractions that are triggered by voluntary movements, such as a purposeful action. In arrhythmic myoclonus, muscle jerks are arrhythmic and sudden. The muscle jerking may be confined to a single muscle or involve the all of the skeletal muscles on one or both sides of the body. The stimulus for the onset of an episode may be sensory (visual, auditory, and/or tactile), or it may be fatigue, stress or anxiety. An extreme startle response may also be present. Rhythmical (segmental) myoclonus is characterized by very rapid and frequent muscle jerks. In contrast to Arrhythmic Myoclonus, this type of Myoclonus is not relieved by sleep and is not triggered by sudden stimuli or voluntary movements. Myoclonic muscle jerks may sometimes be confused with the muscle jerks and rigidity that occur in some forms of Epilepsy. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.) Narcolepsy is a rare neurological sleep disorder characterized by extreme unnatural drowsiness during the day, sudden loss of voluntary muscle tone (cataplexy), hallucinations, sleep paralysis, and/or disrupted sleep during the night. Symptoms usually begin between the ages of 10 and 20 years. The development and severity of symptoms vary greatly among patients. Exaggerated daytime drowsiness is usually the first symptom. The person with Narcolepsy may describe a feeling of sleepiness, tiredness, lack of energy, a "sleep attack", and/or the inability to resist sleep. People with Narcolepsy who have cataplexy can fall asleep so suddenly that they appear to drop to the floor unconscious. In sleep paralysis, the person with Narcolepsy want to move but cannot do so. (For more information on this disorder, choose "Narcolepsy" as your search term on the Rare Disease Database.) Therapies: Standard Epilepsy is treated with anticonvulsant drugs that attempt to prevent and control seizures. The drugs that are currently used include phenytoin, valproic acid, carbamazepine, phenobarbital, clonazepam, ethosuximide, primidone, acteazolamide, paraldehyde, trimethadione, corticotropin and corticosteroids. Brain surgery for Epilepsy that is caused by a brain tumor or drug-resistant temporal lobe epilepsy, may be tried after medications have failed to stop seizures. Surgery is generally not performed until other treatment methods have failed. The success rate for such surgeries is approximately 55 to 70 percent. It is very important to protect the Epilepsy patient from self-injury during a seizure. Protective measures should include clearing the area of any object that is hard or sharp, loosening tight clothing and placing a flat, soft object under the head. The patient should be turned on the side and if possible something soft and flat (such as a pad or wallet) may be placed between the teeth. Restraint is not advised. The administration of artificial respiration should be attempted only if breathing does not start after the seizure has stopped. When the seizure is over, the patient should be allowed to sleep or be helped home if he or she seems confused. If the patient wants to sleep, the head and shoulders should be raised. It is possible that some people with Epilepsy who have had no seizures during an extended period of time (several years), may reduce or discontinue anticonvulsant medications under close supervision by a doctor. Therapies: Investigational At the present time studies are being conducted on many experimental anti- convulsant drugs for the treatment of Epilepsy. These drugs include nimodipine, praziquantel, clomiphene and lorazapam. More research is necessary to determine their long-term safety and effectiveness as treatments for Epilepsy. The orphan drug Fosphentoin is being tested as a treatment for acute attacks of Grand Mal Status Epilepticus. The drug is manufactured by Warner- Lambert Co., 2800 Plymouth Road, Ann Arbor, MI, 48105. Wallace Laboratories is testing Felbamyl (Felbamate), an antiepileptic drug. Felbamate is also being studied for use in Lennox-Gestaut Syndrome (Myoclonic Astatic Petit Mal Epilepsy). More research must be conducted to determine long-term safety and effectiveness of this drug as a treatment for Epilepsy. A form of Diazepam (Valium) that can be administered rectally is being tested by Usher-Smith Laboratories, Inc. in Minneapolis, MN for the treatment of acute repetitive seizures. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epilepsy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Epilepsy Foundation of America 4351 Garden City Drive Landover, MD 20785 (800)332-1000 (301)459-3700 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2202-2213. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2145. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 249-270. SUBLINGUAL LORAZAPAM IN CHILDHOOD SERIAL SEIZURES. J. Yager et al.; AM J DIS CHILD (September 1988; issue 142 (9)). Pp. 931-932. SEIZURE CONTROL WITH CLOMIPHENE THERAPY. A CASE REPORT. A. Herzog; ARCH NEUROL (February 1988; issue 45 (2)). Pp. 209-210. CONTROL OF EPILEPSY PARTIALIS CONTINUANS WITH INTRAVENOUS NIMODIPINE. REPORT OF TWO CASES. L. Brandt et al.; J. NEUROSURG (December 1988; issue 69 (6)). Pp. 949-950.