$Unique_ID{BRK03530} $Pretitle{} $Title{Blepharospasm, Benign Essential} $Subject{Blepharospasm, Benign Essential BEB Blepharospasm Secondary Blepharospasm Meige Syndrome Tardive Dyskinesia Wilson's Disease Tourette Syndrome Tetany Tetanus} $Volume{} $Log{} Copyright (C) 1984, 1985, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 17: Blepharospasm, Benign Essential ** IMPORTANT ** It is possible that the main title of the article (Benign Essential Blepharospasm) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms BEB Blepharospasm Secondary Blepharospasm Information on the following diseases can be found in the Related Disorders section of this report: Meige Syndrome Tardive Dyskinesia Wilson's Disease Tourette Syndrome Tetany Tetanus 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. Benign Essential Blepharospasm is a rare disorder in which the muscles of the eyelids (orbiculares oculi) do not function properly. There are intermittent and involuntary contractions or spasms of the muscles around the eyes. Although the eyes themselves are unaffected, the patient may eventually become functionally blind because of an inability to open the eyelids. Benign Essential Blepharospasm is a form of dystonia, which is a group of neuromuscular disorders characterized by muscle spasms. Symptoms Benign Essential Blepharospasm is characterized in the early stages by an unusually frequent or forceful blinking of the eyes, as well as occasional short episodes of involuntary eye closure. Over a period of years, these episodes increase in frequency and duration. Ultimately, the eyes may be closed 75 percent of the time. Approximately two-thirds of patients also have a general lack of facial muscle tone, and one-third may experience purposeless, rhythmic, quivering movements (tremor). These episodes may be provoked by bright light, emotional stress, motion (such as riding in a car), and reading. Causes The exact cause of Benign Essential Blepharospasm is not known. The disease results from the dysfunction of the 7th cranial nerve, but the underlying cause is not known. Benign Essential Blepharospasm is frequently but incorrectly considered to be a problem of psychological origin. There is some evidence suggesting that other types of dystonia might be inherited as a genetic disorder. There is no evidence to date that suggests that Benign Essential Blepharospasm is an inherited disorder. Affected Population Benign Essential Blepharospasm affects females more often than males in an approximate ratio of 3:2. Most patients are older than 50 when diagnosed, but cases have been diagnosed as early as 10 years of age. All different types of blepharospasm together are estimated to affect approximately 150,000 individuals in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Benign Essential Blepharospasm. Comparisons may be useful for a differential diagnosis: Benign Essential Blepharospasm is a subtype of dystonia which is a group of neurological disorders characterized by muscle spasms. (For more information, choose "dystonia" as your search term in the Rare Disease Database.) Meige Syndrome is a rare neurological disorder that is characterized by rapid eye blinking and spasms of the muscles around the eye (blepharospasm). Major symptoms also include impairment of muscle tone and occasionally spasms of the facial muscles. People in late middle age are most often affected. Involuntary eyelid closure may result from spasms of the muscles around the eyes. (For more information on this disorder, choose "Meige Syndrome" as your search term in the Rare Disease Database). Tardive Dyskinesia is a neurological disorder affecting the central nervous system that is associated with the long-term use of neuroleptic (antipsychotic) drugs. The major symptoms include involuntary and abnormal facial movements such as grimacing and smacking of the lips. Involuntary movements of the arms and legs may also occur. The symptoms of Tardive dyskinesia can mimic certain other neurological disorders. The syndrome usually occurs late in the course of drug therapy and may persist indefinitely after the medication is withdrawn. (For more information on this disorder, choose "Tardive Dyskinesia" as your search term in the Rare Disease Database). Wilson's Disease is a rare genetic disorder characterized by excessive copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. Major symptoms include liver dysfunction, lack of coordination, tremor, spasticity, involuntary movements that may affect the eyes. Behavioral changes and diminished intellectual capacity may also occur. (For more information on this disorder, choose "Wilson" as your search term in the Rare Disease Database). Tourette Syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. The first symptoms are usually rapid eye blinking or facial grimaces. Symptoms may also include involuntary movements of the extremities, shoulders, face and the voluntary muscles, with uncontrollable, inarticulate sounds and sometimes inappropriate words. Tourette Syndrome is not a progressive or degenerative disorder; rather, symptoms tend to be variable and follow a chronic waxing and waning course. Symptoms usually begin before the age of 16. (For more information on this disorder, choose "Tourette" as your search term in the Rare Disease Database). Tetany is a mineral imbalance characterized by spasms of the voluntary muscles. Tetanus is a bacterial infection characterized by spasms of the voluntary muscles and especially the muscles of the jaw (lockjaw). The tetanus bacteria are usually introduced through a wound. Therapies: Standard Benign Essential Blepharospasm may be treated with anticholinergic drugs and with dopamine depleters such as tetrabenazine. The results of these drug treatments are moderate and often temporary. Two surgical approaches are in use. In a neurectomy, sections are taken off the branches of the facial nerve leading to the orbicularis oculi. Paralysis of the entire upper face may result, but the nerve branches tend to regenerate after a period of months or years. In a procedure called a protrator myectomy, the eyelid muscles themselves are destroyed. These procedures are not generally helpful to many patients with blepharospasm. The orphan drug Botulinum A toxin (trade name: Oculinum) has been approved by the FDA as a treatment for Blepharospasm. The technique of injecting small amounts of botulinum toxin into the orbicularis oculi paralyzes these muscles for several months, after which time the procedure must be repeated. Botulinum toxin injections have been very helpful for many Blepharospasm patients, but some people do not respond well. The drug is distributed by Allergran, Inc. For more information patients should ask their physician to contact: Allergan Inc., 2525 Dupont Drive, Irvine, CA 92713-9534. Therapies: Investigational The orphan product Clostridium Botulinum Type F Neurotoxin, is being tested for the treatment of Benign Essential Blepharospasm. The product is manufactured by Porton Products Limited, 816 Connecticut Ave. NW, Washington, DC, 20006. A chemomyectomy, a procedure that destroys the muscles of the eyelids by the injection of Doxorubicin (Adriamycin), has been tried on an experimental basis. The drug is injected into the upper and lower eyelid of patients with Benign Essential Blepharospasm. This study is being performed at the University of Minnesota Medical School. Doxorubicin is a potent, toxic chemotherapeutic agent used to treat advanced cancers and must be administered with extreme caution. The small number of patients treated with these injections did show improvement that was sustained for six months. More study is needed to determine the long term safety and effectiveness of this drug for treatment of Benign Essential Blepharospasm. This disease entry is based upon medical information available through January 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 Benign Essential Blepharospasm, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Benign Essential Blepharospasm Research Foundation, Inc. P.O. Box 12468 Beaumont, TX 77706 (409) 832-0788 NIH/National Institute of Neurological Disorders and Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dystonia Medical Research Foundation One E. Wacker Dr., Suite 2900 Chicago, IL 60601-2001 (312) 755-0198 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2135-2135. OPHTHALMOLOGY: PRINCIPLES AND CONCEPTS, 7th Ed.; Frank W. Newell, Mosby Year Book, 1991. Pp. 194. FACIAL DYSTONIAS, ESSENTIAL BLEPHAROSPASM AND HEMIFACIAL SPASM, J.B. Hold; Am Fam Physician (June 1991; 43(6)): Pp. 2113-2120. CRANIAL DYSTONIA, BLEPHAROSPASM AND HEMIFACIAL SPASM: CLINICAL FEATURES AND TREATMENT, INCLUDING THE USE OF BOTULINUM TOXIN, Kraft, S.P., et al.; Can. Med. Assoc. J. (Nov. 1, 1988; 139 (9)): Pp. 837-44. BOTULINUM TOXIN IN THE MANAGEMENT OF BLEPHAROSPASM, Dutton J.J., et al; Arch. Neurol. (April, 1986; 43 (4)): Pp. 380-2. CLINICAL DOXORUBICIN CHEMOMYECTOMY. AN EXPERIMENTAL TREATMENT FOR BENIGN ESSENTIAL BLEPHAROSPASM AND HEMIFACIAL SPASM, J.D. Wirtschafter; Ophthalmology (March 1991; 98(3)): Pp. 357-366. A GENETIC STUDY OF IDIOPATHIC FOCAL DYSTONIAS, H.M. Waddy et al.; Annals Neurology (March 1991; 29(3)): Pp. 320-324.