the YALE Medical Journal on THE SUBJECT:
Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. Typically symptoms begin between the age of 30 and 50 and respond to benzodiazepines. EMG shows a characteristic abnormality and anti-GAD (glutamic acid decarboxylase) antibodies, which are very specific, are present in 60% of people with the disease.
Key words: Stiff Person Syndrome, Moersch and Woltman Syndrome, Anti-GAD antibody, Stiff man syndrome
Stiff-man syndrome (SMS) was first described by Moersch and Woltman (1956) in a case report of 14 patients seen over 27 years. A literature review by Gordon (1966) including one patient of his own and 33 from the literature more sharply delineated the characteristics of the disease and postulated that the symptoms might be due to a failure of inhibitory function. A follow-up report of the Mayo clinic experience by Lorish (1989) describing 13 patients seen over 30 years established standard criteria for diagnosing the disease. A cumulative literature review by Jankovic (1991) included 2 patients of his own and 82 others is the most recent large scale report of the disease. Effective treatment with a benzodiazepine was described by Howard in 1963.
SMS is very rare. The prevalence has not been reported however it may be as rare as 1 per 1,000,000 persons. There is no clear racial or ethnic predisposition although the disease may be more common in women than in men. Patients with SMS often have other autoimmune disease. A related disorder has been found in association with lung or breast cancer and is distinguished by the production of anti-amphiphysin antibodies.
Although most often the disease begins insidiously and progresses over years, in some cases symptoms can develop over weeks. The first symptom is usually a persistent progressive stiffening of the back or a limb which may be worse under pressure e.g. crossing a busy street. A sensation of aching or stiffness may be noted. This progresses with time and is described as stiffness, rigidity, hypertonia or increased tone. Additionally patients experience spasms of the involved muscles which are characterized as severe, tremendous, intense and painful. The examiner may feel there is a volitional component. When stiffness and spasms are present together patients have difficulty ambulating and are prone to unprotected falls i.e. falls like a tin soldier. When in spasm the muscles are hard to palpation and may produce abnormal joint position: extension or contraction. Spasms may be triggered by sudden noise, touch, electrical shock, passive or volitional movement and are typically relieved by sleep. The onset of stiffness may less commonly begin in the face and arms however the spine and legs almost invariably become involved with time. An increase in the normal curvature of the lumbar spine or hyperlordosis is common. In the GAD antibody positive form of Stiff-man syndrome there is a strong association with other autoimmune diseases such as diabetes, hyperthyroidism, hypothyroidism, pernicious anemia and vitiligo. Often before the diagnosis is established people are considered for psychiatric evaluation because symptoms wax and wane over time and are apparently worsened by heightened emotional states. Patients with SMS have been described at fearful, afraid and depressed; it is important to consider the impact of the symptoms of SMS on the patientís overall well-being.
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