$Unique_ID{BRK03688} $Pretitle{} $Title{Dystonia, Torsion} $Subject{Dystonia, Torsion Torsion Spasm Dystonia Musculorum Deformans DMD Dystonia Lenticularis Ziehen-Oppenheim Disease The Dystonias Marie's Ataxia Glutaricaciduria I Tardive Dyskinesia Spasmodic Torticollis Segawa's Dystonia} $Volume{} $Log{} Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 31: Dystonia, Torsion ** IMPORTANT ** It is possible that the main title of the article (Dystonia, Torsion) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Torsion Spasm Dystonia Musculorum Deformans DMD Dystonia Lenticularis Ziehen-Oppenheim Disease The Dystonias Information of the following diseases can be found in the Related Disorders section of this report: Marie's Ataxia Glutaricaciduria I Tardive Dyskinesia Spasmodic Torticollis Segawa's Dystonia 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. Torsion Dystonia is a neurological movement disorder characterized by involuntary contortions of muscles in the neck, torso and extremities. Occasionally only one or a few muscles are involved. The disorder is most noticeable when walking. The involvement of several muscle groups may produce a sideways gait and the body may twist as if writhing or distorted. There are several types of dystonias that are characterized by involuntary muscle spasms. (To learn about other forms of Dystonia, type "Dystonia" as your search term in the Rare Disease Database). Symptoms Torsion Dystonia is a rare hereditary neurological disorder that is characterized by involuntary muscle contractions causing contortions of the body. In the early stages of this disorder these muscle contractions may be mild. They may also be sporadic and occur only after prolonged activity and stress. As the disease progresses, the painful spasms and contortions begin to occur during physical activity, particularly walking. In the later stages of the disease, they may also occur at rest. Not all cases of Torsion Dystonia are progressive and the muscle spasms may plateau at a mild level. Symptoms may also include foot drag, cramps in the hands and feet, difficulty in grasping objects, and unclear speech. The contracted tendons and buildup of connective tissue may cause permanent physical deformities. Causes Torsion dystonia may be inherited as a recessive, dominant or X-linked recessive trait. It may also be an acquired disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In the autosomal dominant form of Torsion Dystonia, the muscles in the torso and the neck are affected first. Symptoms progress slowly, but new muscle groups may be involved well beyond adolescence. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In the autosomal recessive form of Torsion Dystonia, muscle contractions of the feet and hands typically appear in childhood or adolescence. Symptoms spread quickly to involve the trunk and extremities, but progression slows after adolescence. This form of the disorder is usually more severe than the autosomal dominant form. X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. An X-linked recessive form of Torsion Dystonia had been described in which the initial symptom is spasmodic eye blinking. A chromosome marker for one hereditary form of Dystonia has been identified. This 1989 discovery has pointed to the location of a gene on the long arm of chromosome 9 at q32-34 in one inherited form of the disease. More research is needed to locate the exact gene and other genes that cause several types of dystonia and to develop genetic tests for these disorders. Torsion Dystonia acquired as result of brain injury due to infection, trauma, birth injury, or stroke frequently involves only one side of the body (unilateral) and is generally nonprogressive. Affected Population The autosomal recessive form of Torsion Dystonia usually becomes apparent by puberty and primarily affects Jews of Ashkenazi descent. The defective gene is carried by 1:100 Ashkenazic Jews in the United States. Males and females are affected in equal numbers. Onset of the rarer autosomal dominant form is in late adolescence or early adulthood. The average age at onset for the X-linked form of Torsion Dystonia is in the late thirties. Related Disorders Symptoms of the following disorders can be similar to those of Torsion Dystonia. Comparisons may be useful for a differential diagnosis: Marie's Ataxia is a rare inherited disorder of the brain that affects muscle coordination. Usually the first symptom of this disorder is an unsteady manner of walking (gait) and the increasing inability to walk up and down stairs. The lack of coordination and muscle tremors may eventually involve the arms and the legs. Progressive spinal nerve degeneration leads to the wasting away (atrophy) of muscles in the arms, legs, head and neck. This disorder may begin in early adulthood or in middle age. (For more information on this disorder, choose "Ataxia, Marie" as your search term in the Rare Disease Database). Glutaricaciduria I is a rare hereditary metabolic disorder characterized by involuntary muscle contortions and an impairment in the ability to carry out voluntary movements. Affected individuals usually appear normal at birth. During the first year of life the symptoms may include vomiting, high levels of different acids in the blood (metabolic acidosis), and decreased muscle tone (hypotonia). These symptoms may progress to dystonia and choreic movements in some patients. (For more information on this disorder, choose "Glutaricaciduria " as your search term in the Rare Disease Database). Tardive Dyskinesia is a rare neurologic syndrome associated with the long-term use of neuroleptic drugs. These drugs produce symptoms that mimic other movement disorders but are actually side effects of the drug. This disorder usually appears late in the course of drug therapy. The major symptoms include involuntary and abnormal facial movements such as grimacing, sticking out the tongue, and the smacking of lips. Involuntary, rapid movements of the arms and legs (chorea) may also occur. (For more information on this disorder, choose "Tardive Dyskinesia" as your search term in the Rare Disease Database). Spasmodic Torticollis is a form of dystonia characterized by repetitive and continuous spasms in the muscles of the neck. These painful spasms result in the twisting of the neck and an unusual head posture. These spasms may begin slowly and the head may rotate to one side when the patient attempts to hold it straight or when experiencing stress. One shoulder may be higher than the other. These symptoms may progress slowly and level off after 2 to 5 years. (For more information on this disorder, choose "Spasmodic Torticollis" as your search term in the Rare Disease Database). Segawa's Dystonia is an extremely rare form of dystonia. A chemical imbalance in the central nervous system causes lack of muscle control. This disorder ranges from almost normal movement in the morning to disability in the afternoon. The disorder begins in early childhood and is often confused with and misdiagnosed as Cerebral Palsy. It worsens for a few years and then becomes static. This disorder is inherited as an autosomal dominant genetic trait. Therapies: Standard Torsion Dystonia has been treated with many drugs. These drugs include Artane (trihexyphenidyl), Cogentin (benztropine), Valium (diazepam), Rivotril (clonazepam), Lioresal (baclofen), Tegretol (carbamazepine), Sinemet or Madopar (levodopa), Parlodel (bromocriptine), Thorazine (chlorpromazine), Dartral (thiopropazate), Serenace or Haldol (haloperidol), Orap (pimozide), Nitoman (tetrabenazine) and Symmetrel (amantadine). The orphan drug botulinum A toxin (Oculinum) has been approved by the FDA for treatment of patients with certain forms of dystonia, including benign essential blepharospasm (muscle spasms of the eyelids). This drug is manufactured by: Allergran Pharmaceuticals 2525 Dupont Dr. Irvine CA, 92713 Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Researchers who are investigating Torsion Dystonia are continuing to search for drugs that may help treat dystonic symptoms. Investigators are also seeking better surgical techniques, including the implantation of electrical stimulating devices that may enhance nerve impulse transmission. Effectiveness and long-term side effects of these implanted devices have not been fully documented and more extensive research is being pursued before their therapeutic value for the treatment of Torsion Dystonia can be evaluated. Surgery is rarely used to treat Torsion Dystonia, but it is occasionally used to destroy cells of the deeply placed gray matter (basal ganglia) of the brain. It is believed that these are the cells that are firing off the wrong instructions to the muscles causing the contortions that are characteristic of Torsion Dystonia. It should be noted that the risk of brain damage from this procedure is very high. Surgery may also be used in extreme cases to sever nerves leading to the contracting muscles. Researchers at the National Institute of Neurological Disorders and Stroke in Bethesda, MD are testing a Parkinson's Disease medication, Sinemet, on patients with this form of dystonia. This drug helps the body to produce dopamine, a naturally occurring chemical in the brain that is deficient in children with Segawa's Dystonia. Patients who wish to participate in this program should ask their physicians to contact: Dr. John K. Fink NINDS Developmental and Metabolic Neurology Branch NIH, Bldg. 10, Rm. 3D03 Bethesda, MD 20892 This disease entry is based upon medical information available through October 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 Torsion Dystonia, please contact: National Organization for Rare Disorders, Inc. (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & 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 National Foundation for Jewish Genetic Diseases 250 Park Ave. New York, NY 10177 (212) 682-5550 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 MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 328-329, 1349, 1974. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2134-2135. CLINICAL COURSE OF IDIOPATHIC TORSION DYSTONIA AMONG JEWS IN ISRAEL, R. Inzelberg et al.; ADV NEUROL (1988; 50): Pp. 93-100. AUTOSOMAL DOMINANT TORSION DYSTONIA IN A SWEDISH FAMILY. L. Forsgren et al: ADV NEUROL (1988; 50): Pp. 83-92. THE DYSTONIAS, C.H. Markham; Curr Opin Neurol Neurosurg (June 1992; 5(3)): Pp. 301-307. THE GENETICS OF PRIMARY TORSION DYSTONIA, U. Miller; Hum Genet (Jan 1990; 84(4)): Pp. 107-115.