$Unique_ID{BRK04238} $Pretitle{} $Title{Stiff Man Syndrome} $Subject{Stiff Man Syndrome Muscular Rigidity Progressive Spasm Moersch-Woltmann Syndrome SMS } $Volume{} $Log{} Copyright (C) 1987, 1989, 1991 National Organization for Rare Disorders, Inc. 326: Stiff Man Syndrome ** IMPORTANT ** It is possible the main title of the article (Stiff Man Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Muscular Rigidity - Progressive Spasm Moersch-Woltmann Syndrome SMS 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. Stiff Man Syndrome is a very rare neurological disorder. It is characterized by progressive rigidity and spasm of the voluntary muscles of the neck, trunk, shoulders, and proximal extremities. Symptoms Stiff Man Syndrome is characterized by progressive muscular rigidity. Aching and tightness of the voluntary muscles of the body and limbs are usually the first symptoms. Profuse sweating and a rapid heart beat (tachycardia) may accompany the muscle spasms. Muscles of the neck, trunk, shoulders, and proximal extremities may be involved on both sides of the body. During attacks of muscular spasm, contractions such as sharp bending and twitching may occur in the muscles of the hand. Extreme bending of the sole (plantar flexion) may also occur. Affected muscles may become twisted and contracted, resulting in bone fractures in the most severe cases. Persons affected by Stiff Man syndrome may have difficulty making sudden movements and exhibit a waddling gait when walking. Sleep usually suppresses frequency of contractions. SMS may be progressive and may gradually involve additional muscles of the back and abdomen. Stiffness may increase and patients may develop a hunched posture (kyphosis) or a swayback (lordosis). Causes Newly reported studies support the theory that Stiff Man Syndrome is an autoimmune disorder. Onset occurs gradually. Heredity factors have not been established. The spasms can be triggered by external factors such as sudden noise and emotional stimuli. The attacks of stiffness may be caused by an abnormality deep in the grey mass of the brain (basal ganglion of the Central Nervous System). Heredity of Stiff Man Syndrome has not been proven, but one research paper has described 10 people affected with the syndrome in 3 generations of one family. Affected Population About 70% of persons affected with Stiff Man Syndrome are male adults, about 30% are female. It is a very rare disorder. Related Disorders Reflex Sympathetic Dystrophy Syndrome (RSDS) is a disorder which involves pain in nerves, skin, muscles, blood vessels, and bones of one or more extremities. Pain in varying degrees is the primary symptom. (For more information, choose "RSDS" as your search term in the Rare Disease Database.) Torsion Dystonia (Dystonia Musculorum Deformans, DMD) is an incapacitating neurological disorder which causes patients to develop repetitive twisting and writhing movements. The movements may affect a single muscle, a group of muscles such as those in the arms, legs, or neck, or the entire body. Experts have lately been referring to this disorder as "the Dystonias", indicating a group of related movement disorders rather than a single disorder. (For more information choose "Torsion Dystonia" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Stiff Man Syndrome with diazepam may provide dramatic improvement in many cases. This drug relaxes the muscles. Therapies: Investigational Drs. Pietro DeCamilli and Michele Solemana, of Yale University in New Haven, CT, theorize that Stiff-Man Syndrome may be an autoimmune disorder in which the body's natural defenses against invading organisms (e.g., antibodies, lymphocytes) attack synapses in the brain and spinal cord, where a neurotransmitter, gammaaminobutyric acid (GABA), flows between nerve ends. The physicians are studying the use of plasma exchange combined with steroid drugs as a treatment for Stiff Man Syndrome. Plasma exchange (plasmapheresis) is a procedure for removing unwanted substances (toxins, metabolic substances, and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human blood and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis and steroid drugs can be recommended as a treatment for Stiff Man Syndrome. This disease entry is based upon medical information available through March 1991. 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 Stiff Man Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dr. Mark Hallet NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References MENDELIAN INHERITANCE IN MAN, 6th ed: Victor A. McKusick; Johns Hopkins University Press, 1983. P. 495. DICTIONARY OF MEDICAL SYNDROMES, 2nd ed: Sergio I. Magalini and Euclide Scrascia; Lippincott, 1981. P. 558. AUTOANTIBODIES TO GABA-ERGIC NEURONS AND PANCREATIC BETA CELLS IN STIFF MAN SYNDROME, Michele Solimena, M.D., et al.; New Eng J Med., (May 31, 1990, issue 322 (2)). Pp. 1555-1560.