An overview of stiff person syndrome health hearty. Results for stiff person syndrome 1 10 of 146 sorted by relevance date click export csv or ris to download the entire page or use the checkboxes to select a subset of records to download. Moersch and woltman described stiff man syndrome in 1956 in 14 patients with tightness of the back, abdominal and thigh muscles. Stiff person syndrome is a neurological disease and autoimmune disorder. Stiff person syndrome is a rare neurological disorder that impacts the nervous system of the body.
She was admitted to hospital as an emergency with prolonged and painful extensor spasms affecting the neck and back, arms, and legs. The general neurologist may see only one or two cases during his or her. Epidemiology onset is usually between 30 and 50 years of age. Stiffperson, or stiffman, syndrome sps is a fluctuating motor disturbance characterized by sudden muscular rigidity with superimposed spasms. See more ideas about autoimmune disease, invisible illness and ehlers danlos syndrome. The moerschwoltman syndrome, initially called stiff man syndrome, is now commonly known as stiff person syndrome. Stiff person syndrome sps is a rare and disabling neurological disorder of autoimmune origin, characterized by progressive stiffness. Pdf pstiff person syndrome sps is a rare, debilitating condition which presents with progressive and inconsistent. Stiff man syndrome and related conditions meinck 2002. Stiff man syndrome with thymoma the annals of thoracic. Sps is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set.
A recent series of sps reported the prevalence of t1d at 43% 4. A young alabama woman with a rare disorder that leaves her body literally as stiff as a board is the first fred hutchinson cancer research center patient to receive a stem cell transplant in hopes of helping if not curing her devastating condition. Stiffperson syndrome originally known as stiffman syndrome was first described by moersch and woltman in 1956. The disorder is often stimulated by the emotional stress. Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease.
Stiff person syndrome has been divided into three subgroupsstiff trunk man syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity and distinct clinical, electrophysiological, and immunological features. Background little information is available about the incidence of stiff man syndrome sms the classic form or its variants or about longterm treatment responses and outcomes objective to comprehensively describe the characteristics of a cohort of patients with sms design observational study setting mayo clinic, rochester, minnesota patients ninetynine patients with classic sms vs. A characteristic ensemble of symptoms and signs allows a tentative clinical diagnosis. Stiffperson syndrome sps, also known as stiffman syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. My name is liz hodgkinson i use my husband rays facebook for various reasons. Thymectomy for paraneoplastic stiffperson syndrome. Apr 27, 2010 first described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles. These spasms are capable of slamming the victim into walls and furniture. A patient exhibiting many typical features of stiff man syndrome had intermittent symptoms for 22 years before the correct diagnosis was made. Jabbari, significant improvement of stiffperson syndrome after paraspinal. Stiffperson syndrome sps is a rare autoimmune neurologic disorder characterized by painful tonic spasms in systemic skeletal muscles. Pdf stiffperson syndrome or moerschwoltmann is a very rare and disabling neurologic disorder characterized by. Concomitant sps and classical type 1 diabetes t1d have been described in case reports.
This case report is about the novel use of the anticd20 antibody, rituximab, in the treatment of a 41 year old woman with stiff person syndrome. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. Stiffperson syndrome sps is a progressive neurologic disorder characterized by 1 stiffness that is prominent in axial muscles, with cocontraction of agonist and antagonist muscles. Stiffperson syndrome formerly called stiffman syndrome affects the central nervous system cns but has neuromuscular manifestations. However, its also regarded as an autoimmune disease. Their first patient was a 49yearold iowa farmer who presented to the mayo clinic, rochester, minnesota in 1924 with muscle stiffness and difficulty walking. Gad antibody gada positivity is a hallmark of autoimmune diabetes and the rare autoimmune neurological disorder stiffperson syndrome sps. An association with autoimmune disease and various malignancies is described and. Stiffperson syndrome neurologic disorders msd manual. Stiff man syndrome an overview sciencedirect topics.
Rosenfeld, in abeloffs clinical oncology fifth edition, 2014. Sep 01, 2011 the patient was a 24yearold woman with a 1year history of stiff person syndrome who received outpatient physical therapy over the course of 15 weeks. Cureus a case of antiglutamic acid decarboxylase65. Spasms can be prolonged and extremely forceful, with the ability to generate enough force to fracture bone. Methods twenty three patients referred over a 10 year period with rigidity and spasms in association with continuous motor unit. Treatment of stiff person syndrome with rituximab journal. Patients had serum glutamic acid decarboxylase gad autoantibodies in high titer, clinical evidence of organ. Identification of the antigad antibodies allowed the revision of.
Stiff man syndrome is a neuromuscular condition in which a hyperactive startle reflex results in the contraction of the muscles, thus causing violent spasms. Muscle spasms may also be present as a result of the sensitivity to various stimuli, leading to abnormal postures and. Stiff man syndrome, first described in 1956, is a very rare autoimmune disorder with a prevalence of 1. The stiffman syndrome with diabetes mellitus type 1 and autoimmune thyroiditis. It is majorly characterized by an autoimmune disease and fluctuating muscle rigidity.
The moerschwoltman syndrome, initially called stiffman syndrome, is now commonly. Hi benny and other stiff person sufferers thank you for accepting me into your group. In 1956, moersch and woltman1 described 14 patients who presented with extreme muscle spasms and stiffness in the setting of an otherwise normal neurologic examination. Woltman, progressive fluctuating muscular rigidity and spasm stiffman syndrome. Stiffperson syndrome sps is characterized by progressive, usually symmetric rigidity of the axial muscles with superimposed painful spasms precipitated by tactile. We treated a 57yearold woman with a type b1 thymoma, based on the world health organization classification, who had stiff man syndrome. Stiff man syndrome is an unusual disorder characterized by progressive muscle stiffness, aching, muscle spasms, and rigidity. Stiff person syndrome associated with compartment syndrome. The stiffness develops over a period of months and is most prominent in the paraspinal muscles and lower limbs.
Objective to investigate whether the stiff limb syndrome may be separated from the stiff man syndrome and progressive encephalomyelitis with rigidity on simple clinical grounds, and whether such a distinction has implications for aetiology, treatment, and prognosis. Kathleen mcevoy, in office practice of neurology second edition, 2003. Stiffpersonsyndromeinformationpage national institute. Stiff man syndrome sms is a rare disease of progressive muscle stiffness, most common in middle age, often associated with autoimmunity to glutamic acid decarboxylase gad and responsive to treatment with gaba agonists. Stiff person syndrome symptoms, treatment, prognosis, causes. Stiff person syndrome living forward home facebook. Stiff person syndrome center johns hopkins hospital.
The age that symptoms begin can vary, but most people start experiencing symptoms between ages 30 and 60. Chronic pain, impaired mobility, and lumbar hyperlordosis are common symptoms. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease. Stiffman syndrome is a welldescribed, but rare and often overlooked, neuromuscular syndrome of rigidity, spasm, and gait abnormality that is associated with several endocrinologic and autoimmune disorders. This article provides information about its symptoms, diagnosis, treatment, and prognosis. The disease had progressed despite a favourable initial response to conventional treatment with intravenous.
Background little information is available about the incidence of stiffman syndrome sms the classic form or its variants or about longterm treatment responses and outcomes objective to comprehensively describe the characteristics of a cohort of patients with sms design observational study setting mayo clinic, rochester, minnesota patients ninetynine patients with classic sms vs. The stiff man syndrome is a rare disorder of the central nervous system cns characterised by progressive fluctuating rigidity and painful spasms of the body musculature. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. Even though it is a rare condition it causes significant morbidity and mortality. Stiff person syndrome sps is characterized by progressive, usually symmetric rigidity of the axial muscles with superimposed painful spasms precipitated by tactile. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Stiffmansyndrom deutsche gesellschaft fur neurologie. Stiff person syndrome sps is a rare autoimmune condition characterized by stiffness and rigidity in the lower limb muscles.
Monitoring antibody titers during the course of treatment is, hence, unnecessary. Utility of botulinum injections in stiffperson syndrome. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. She had pain, muscle spasms, gait anomalies, and rangeofmotion deficits, which affected her left lower extremity. Moerschwoltmann syndrome, stiff person syndrome or sps. The stiff man syndrome sms and its variants, focal sms, stiff limb or leg syndrome sls, jerking sms, and progressive encephalomyelitis with rigidity and myoclonus perm, appear to occur more frequently than hitherto thought. The stiff person syndrome center at johns hopkins department of neurology can offer clarity, effective symptom management and hope for the future. I have numerous autoimmune diseases including stiff person syndrome. What is stiff person syndromecausessymptomstreatment. The stiff person syndrome sps, also known as stiff man syndrome is a very rare disease related to the nerves.
Review of 23 patients affected by the stiff man syndrome. There then remain a group of patients who may have the classical stiffman syndrome or a related syndrome. Highdose benzodiazepines or baclofen are widely considered the optimal initial therapy. Paraneoplastic stiff man syndrome with a thymoma is rare disease. Stiff person syndrome is a rare neurological disorder. People with this condition first experience a stiffening of the muscles of their trunk followed, over time, by the development of stiffness and rigidity in the legs and other muscles in the body.
The cause is unknown, but there are clinical and laboratory. Stiff person syndrome is a rare neurological disorder also known as the stiffman syndrome. For language access assistance, contact the ncats public information officer. Sps can be classified into classic sps, paraneoplastic sps, and sps variants. Stiff man syndrome, a rare disorder characterized by intermittent spasms and stiffness of the axial muscles, is associated with an electromyographic. Stiff person syndrome presenting with sudden onset of. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase gad are observed.
Most patients with stiffperson syndrome have antibodies against glutamic acid decarboxylase gad, the enzyme involved in the production of the inhibitory neurotransmitter gaba gammaaminobutyric acid. Stiff person syndrome sps is a rare disorder, characterised by. It is caused by increased muscle activity due to decreased inhibition of the central nervous system cns that results from the blockade of glutamic acid. The stiff man and stiff man plus syndromes springerlink. Backgroundlittle information is available about the incidence of stiffman syndrome sms the classic form or its variants or about longterm treatment respon. It primarily affects the brain and the spinal cord. Thank you for your interest in spreading the word about the bmj. Stiff person syndrome predominantly affects the truncal muscles, superimposed by spasm and causes postural deformities. Stiffperson syndrome sps, formerly called stiffman syndrome is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and spasm involving the axial muscles, resulting in severely impaired ambulation. The disorders cause is unknown, although evidence is pointing increasingly to the fact.
Latent autoimmune diabetes in stiffperson syndrome. Stiffman syndrome article about stiffman syndrome by. If you have problems viewing pdf files, download the latest version of adobe reader. In some patients sps is reportedly accompanied by thymomas,2. Whether these cases represent the end of a spectrum or etiologically distinct entities is an unanswered question. Stiff person syndrome genetic and rare diseases information. Although rare in general neurology practice, once observed it is unforgettable. Stiff person syndrome is a rare autoimmune movement disorder that affects the central nervous system the brain and spinal cord. The national institute of neurological disorders and stroke ninds conducts research related to sps in its laboratories at the national institutes of health nih, and also supports additional research through grants to major medical institutions across the country. Stiffman syndrome in childhood article pdf available in journal of the royal society of medicine 946. Stiff person syndrome sps, also known as stiff man syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. Stiff man syndrome symptoms, diagnosis and treatment. Stiff person syndrome sps is an uncommon neurological disorder characterized by significant rigidity and muscle spasms primarily affecting the truncal and proximal musculature.
Stiff person syndrome sps is a progressive neurologic disorder characterized by 1 stiffness that is prominent in axial muscles, with cocontraction of agonist and antagonist muscles. Jul 23, 2002 the stiff man syndrome sms and its variants, focal sms, stiff limb or leg syndrome sls, jerking sms, and progressive encephalomyelitis with rigidity and myoclonus perm, appear to occur more frequently than hitherto thought. The classical form predominantly affects the axial and proximal limb muscles and is aggravated by emotional, somatosensory, or acoustic stimuli. Stiff limb syndrome is a clinical feature of the stiff person syndrome, which is a rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms that involve axial and limb musculature. The cause is unknown, but there are clinical and laboratory associations with autoimmune diseases, and it is becoming increasingly apparent that stiff man syndrome may form a spectrum of diseases. Stiff person syndrome sps is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. Being diagnosed with this very rare condition can leave patients and families with many questions and few answers. The disease had progressed despite a favourable initial response to conventional treatment with.
It was first described in 1956 by moersch and woltman, although they observed the first case of this condition much earlier, in 1924. Stiff man syndrome is a welldescribed, but rare and often overlooked, neuromuscular syndrome of rigidity, spasm, and gait abnormality that is associated with several endocrinologic and autoimmune disorders. A patient exhibiting many typical features of stiffman syndrome had intermittent symptoms for 22 years before the correct diagnosis was made. Historical perspective it was originally described by moersch and woltman in 1956 as stiffman syndrome. Stiff person syndrome sps is a progressive syndrome characterized by recurrent episodes of severe muscle stiffness, rigidity, and painful spasms in the trunk and limbs. A 27yearold hispanic woman presented to our emergency department. However, the presence of alternative forms of autoimmune diabetes, such as latent. Stiffperson syndrome information page what research is being done. The eponym for this syndrome is moersch woltmann syndrome. Apr 29, 2008 in 1956, moersch and woltman1 described 14 patients who presented with extreme muscle spasms and stiffness in the setting of an otherwise normal neurologic examination. We report on 2 patients who presented stiffness and spasms similar to those of stiff. With encouragement from her older brother, a medical expert at another major hospital, gay made the trip to baltimore and met with dr. So far there has been no evidence to support the cause of this disease. Because sps often is misdiagnosed as a psychiatric illness and psychiatric comorbidities are common in patients with this disorder, 1 awareness and recognition of this unique condition is essential.
Stiff man syndrome is a rare motor function disorder characterized by involuntary stiffness of axial muscles and superimposed painful muscle spasms. The general neurologist may see only one or two cases during his or her career. Although considered a rare disorder, stiff person syndrome is likely to be underdiagnosed due to a general lack of awareness of the disease in the medical community. Stiff person syndrome sps is a rare neurological disorder with features of an autoimmune disease. Only a handful of clinics around the world address sps, and one is the johns hopkins center. Stiff person syndrome an overview sciencedirect topics. The first page of the pdf of this article appears above. Spasms can be prolonged and extremely forceful, with the ability to generate enough force to fracture. Stiff man syndrome with thymoma the annals of thoracic surgery. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Physical therapist management of stiff person syndrome in a. Furthermore, a widebased gait with functional impairment is generally seen. Sps is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. I live half time in sydney and half time on the mid north coast of new south wales.
Stiff person syndrome sps is a rare disorder, characterised by fluctuating rigidity and stiffness of the axial and proximal lower limb muscles, with superimposed painful spasms and continuous motor unit activity on electromyography. Methods twenty three patients referred over a 10 year period with rigidity and spasms in association with continuous. When strict diagnostic criteria are used, patients with the stiff man syndrome uniformly have axial rigidity, and about 90% are found to have antibodies against glutamic acid decarboxylase. These patients showed characteristic axial muscle contractions and exaggerated, painful stimulusinduced spasms. The disorder generally impacts the spine and the extreme lower parts of the body. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Stiffperson syndrome sps is a rare disorder, characterized by progressive fluctuating muscular. Specific phobia is a frequent nonmotor feature in stiff man syndrome. Stiffman syndrome is a rare motor function disorder characterized by involuntary stiffness of axial muscles and superimposed painful muscle spasms. We searched the mayo clinics computerized diagnostic index for patients january 1984 to december 2008 with the following diagnoses. Apr 09, 2020 stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. This page is a variety of topics on livingcoping with a rare disorder like stiff person syndrome sps, or any chronic.