Moerschwoltmann syndrome, stiff person syndrome or sps. Antibodies against glutamic acid decarboxylase gad are associated with stiff person syndrome sps. Stiff person syndrome presenting with sudden onset of. Classic stiff person syndrome sps features stiffness, antiglutamic acid.
Benzodiazepineclass drugs are the most common treatment. Stiffperson syndrome is a rare neurological disorder that is often associated with autoimmune conditions such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Stiff person syndrome is a rare neurological disorder characterized by fluctuating muscle rigidity in the trunk and limbs and a. Over time, stiff person syndrome can lead to an altered posture. For language access assistance, contact the ncats public information officer. Objective to comprehensively describe the characteristics of a cohort of patients with sms. Stiff person syndrome nord national organization for rare.
Stiffman syndrome article about stiffman syndrome by the. Stiff person syndrome sps is a rare neurological disorder with features of an autoimmune disease. Journal of neurology, neurosurgery, and psychiatry, 767, 9991001. Thompson, md2 1department of neurology, im neuenheimerfeld, heidelberg, germany 2university department of medicine and department of neurology, university of adelaide and royal adelaide hospital, adelaide, south australia. 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. We report a case of stiffperson syndrome associated with several autoimmune diseases. Stiff person syndrome is a rare central nervous system disorder characterized by fluctuating muscle rigidity of truncal and proximal limb muscles with periodic spasms, resulting in a significant disability. Stiff man syndrome symptoms, diagnosis and treatment. Research suggests that sps is also an autoimmune disorder, and people with the syndrome often have other autoimmune disorders such as type 1 diabetes or thyroiditis.
Thank you for your interest in spreading the word about the bmj. Symptoms of stiffperson syndrome include heightened sensitivity to stimuli and fluctuating muscle rigidity. 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. Moersch and woltman syndrome, stiff limb syndrome, stiff trunk syndrome, perm progressive encephalomyelitis with rigidity and myoclonus a rare, disabling neurological disease. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Original contribution stiffman syndrome and variants. A 50yearold woman presented with symptoms progressed over 9 years, resulting in a cerebellar ataxia and right upper limb tremor. Stiff man syndrome is a neuromuscular condition in which a hyperactive startle reflex results in the contraction of the muscles, thus causing violent spasms. 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. Stiff person syndrome sps is an autoimmune neurological disorder.
Stiff person syndrome and social security disability. What is stiff person syndromecausessymptomstreatment. Like other types of neurological disorders, sps affects your brain and spinal cord central nervous system. Backgroundlittle information is available about the incidence of stiffman syndrome sms the classic form or its variants or about longterm treatment respon. Stiff person syndrome nord national organization for. 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. Pdf stiff person syndrome sps is a rare neurological disorder characterized by progressive muscle stiffness and rigidity, mostly involving. Stiff person syndrome living forward home facebook. Links to pubmed are also available for selected references. Outcomes of 25 patients with classic stiffman syndrome who were followed up for at least 5 years. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. If you have problems viewing pdf files, download the latest version of adobe reader. This case report is about the novel use of the anticd20 antibody, rituximab, in the treatment of a 41yearold woman with stiff person syndrome. Sps is characterized by muscle rigidity that waxes and wanes with painful muscle spasms, progressive muscle stiffness in the trunk and extremities, abnormal posture, and sensitivity to stimuli such as noise, touch, and emotional distress.
In addition to classic sps, which is found in the majority of cases, there are several variants often referred to as stiff man plus syndromes. It causes progressive muscle stiffness and painful spasms that can be triggered by a variety of things including sudden movement, cold temperature or unexpected loud noises. This case report reveals some of the characteristic features of stiff person syndrome with an atypical presentation. Stiff person syndrome gets its name from its chief symptoms, which are rigidity andor spasticity of the skeletal muscles. Stiff person syndrome sps is a chronic, progressive neurological disorder characterized by painful muscle spasms and rigidity with high titres of circulating antigad antibodies. The muscle spasms occur randomly or can be triggered by noise, emotional distress and light physical touch. Stiffperson syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. Stiff person syndrome, sps chronic neurologic disorder 1. A characteristic ensemble of symptoms and signs allows a tentative clinical diagnosis. A case of treatment resistance and complications in a patient. Stiff person syndrome sps is a rare and disabling neurological disorder of.
Stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. The stiff man and stiff man plus syndromes springerlink. Successful treatment of stiff person syndrome with. Stiff person syndrome sps affects only about one or two in a million people.
What is stiff person syndromecausessymptomstreatmentprognosis. Stiff person syndrome is a neurological disease that only affects one in a million people. This could be due to the involved treatment by high dose benzodiazepines. Stiff person syndrome may not be a common condition. Tests for stiff person syndrome include testing with an emg needle, and gad glutamic acid decarboxylase antibody tests. Here, a case report of stiff person syndrome in association with thyroiditis, epilepsy, and.
Stiff person syndrome sps is a rare acquired neurological disorder characterized by fluctuating muscle rigidity and stiffness, painful spasms, and continuous motor unit activity. Ssttstiffstiiffffiff man syndrome isaacman syndrome isaacman syndrome isaac s syndrome s syndrome s syndrome dystoniadystonia acquired acquired neuromyotonianeuromyotonia paraneoplasticsms breast and small cell lung cancer are the. Get a printable copy pdf file of the complete article 467k, or click on a page image below to browse page by page. Apr 09, 2020 stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord.
You must include substantial proof of disability in your application. Stiffperson syndrome sps, also known as stiffman syndrome sms, is a rare neurologic. Stiff man syndrome is of spinal or brainstem origin and shows evidence of being an autoimmune disease. Like other types of neurological disorders, sps affects your brain.
Even rarer, after nearly dying from my illness, im someone whose sps is in remission, thanks to my doctors at rush. These spasms are capable of slamming the victim into walls and furniture. Stiff person syndrome, also called moerschwoltman syndrome and formerly stiff man syndrome, can also cause painful muscle spasms. Your stiff person syndrome social security disability case. 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. Stiffperson syndrome sps, formerly called stiff man syndrome is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and spasm involving the axial muscles, resulting in severely impaired ambulation 1,2. A case report advanced practice nursing jennifer c. Stiff person syndrome symptoms, diagnosis and treatment. Investigations revealed elevated serum and csf antigad antibody titres 98. Patient 97 initially improved with azathioprine but deteriorated after discontinuing the drug. Stiffman syndrome, a rare disorder characterized by intermittent spasms and stiffness of the axial muscles, is associated with an electromyographic. The stiffness develops over months and is most prominent in the paraspinal muscles and lower limbs.
An autoimmune disorder occurs when your immune system incorrectly identifies normal body. However, its also regarded as an autoimmune disease. A case report bolin ho and pangying shih abstractwe reported a 27yearold man presenting with progressive muscle rigidity and intermittent spasms for six years. Mar 31, 2015 stiff person syndrome is a neurological disease that only affects one in a million people. The stiff person syndrome center at johns hopkins department of neurology can offer clarity, effective symptom management and hope for the future. Stiff person syndrome facebook group genetic and rare. Stiff person syndrome sps, formerly called stiff man syndrome is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and spasm involving the axial muscles, resulting in severely impaired ambulation 1,2. Stiffperson syndrome stiff person syndrome sms was first described by moersch and woltman 1956 in a case report of 14 patients seen over 27 years. This page is a variety of topics on livingcoping with a rare disorder like stiff person syndrome sps, or any chronic. Research suggests that sps is also an autoimmune disorder, and people with the syndrome often have other autoimmune disorders such as. Stiffman syndrome is characterized clinically by fluctuating mus durham, north carolina cular stiffness and spasm, and electromyographically by continuous motor unit activity at rest, which is abolished by sleep, general an esthesia, nerve block, curare, and several centrallyacting medi cations. There then remain a group of patients who may have the classical stiffman syndrome or a related syndrome. It is a postsynaptic cellular protein responsible for clustering of two inhibitory neurotransmitters.
Initially, stiffness occurs in the thoracolumbar paraspinal and abdominal muscles. This means we have access to the latest knowledge in stiff person syndrome and can apply that insight to each patient. Ssttstiffstiiffffiffman syndrome isaacman syndrome isaacman syndrome isaac s syndrome s syndrome s syndrome dystoniadystonia acquired acquired neuromyotonianeuromyotonia paraneoplasticsms breast and small cell lung cancer are the commonest, thymoma,cacolon,hodgkins dz. Intravenous immunoglobulin ivig has been proven to be very effective in reducing the symptoms associated with sps, most notably stiffness. Classic stiff person syndrome sps features stiffness, antiglutamic acid decarboxylase antigad antibodies, and other findings. On the second day of her fiveday treatment, her consulting neurologist also. Table 1 other autoantibodies associated with stiff person syndrome sps1012 gephyrin present in a very small proportion of the paraneoplastic variant. Moersch and woltman syndrome, stiff limb syndrome, stiff trunk syndrome, perm progressive encephalomyelitis with rigidity and myoclonus a rare, disabling neurological disease characterized clinically by progressive muscle rigidity. Stiffman syndrome in childhood article pdf available in journal of the royal society of medicine 946. Patients with otherwise classic sps may either lack antigad antibodies or be seropositive for others. The stiffman syndrome europe pmc article europe pmc.
Being diagnosed with this very rare condition can leave patients and families with many questions and few answers. Stiff person syndrome an overview sciencedirect topics. Stiff person syndrome sps is a rare neurological disease with features of an autoimmune disease. Antigad antibodies are also detected in some neurological syndromes such as ataxia in which stiffness is inconsistently present. Get a printable copy pdf file of the complete article 1. Mar 04, 2016 introduction stiff man syndrome was first described in 1956 by moersch and woltman. However, if disregarded in the differential diagnosis, it can lead to several unnecessary tests being carried out causing a delay in treatment. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Patients with stiffperson syndrome develop fluctuating rigidity of the axial musculature with spasms precipitated by emotional, auditory, or somesthetic stimuli. Stiff person syndrome center johns hopkins hospital.
Pdf stiffperson syndrome or moerschwoltmann is a very rare and disabling neurologic disorder characterized by muscle rigidity and. 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. Apr 27, 2010 in 1956, moersch and woltman of the mayo clinic described an unusual condition of muscle stiffening and difficulty walking. Whether these cases represent the end of a spectrum or etiologically distinct entities is an unanswered question. Aug, 2019 stiff person syndrome is an extremely rare neurological condition which affects the nervous system of the body. Patients with stiffperson syndrome sps suffer progressive stiffness in their truncal muscles, which become rigid and stiff because the lumbar and abdominal muscles engage in constant contractions. Stiffperson syndrome information page national institute. Although rare in general neurology practice, once observed it is unforgettable. Stiff person syndrome sps is a very rare disease affecting only one or two people per million.
Although considered a rare disorder, stiff person syndrome is likely to be under diagnosed due to a. While stiff person syndrome is now considered a compassionate allowance by the ssa, and therefore qualifies for expedited processing, the diagnosis alone is not enough to be found eligible for disability benefits. A 49yearold male with type 1 diabetes presented with a 6month history of muscle rigidity and spasms of his. Prevention of an acute severe exacerbation of stiffperson. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease. Stiff man syndrome and related conditions meinck 2002. This caseseries study reports the clinical and immunologic findings in a cohort of patients with stiff person spectrum disorder, including stiff person syndrome, stiff limb syndrome, or stiff person syndrome plus progressive encephalomyelitis with rigidity, myoclonus, or other symptoms. Stiff person syndrome sps, also called moerschwoltmann syndrome, is a rare nervous system disorder in which muscle stiffness comes and goes. According to expert consensus, considering the disabling progressive course of stiff person syndrome, ivig should be offered as the firstline treatment. Therapeutic plasma exchange in the treatment of stiff. Classification of 99 patients with classic stiff man syndrome and variants. The diagnosis of stiff person syndrome was based on the clinical features and neuroelectrophysiologic findings of continuous motor unit activities. Stiff person syndrome genetic and rare diseases information.
It is caused by increased muscle activity due to decreased inhibition of the central nervous system cns that. Johns hopkins stiff person syndrome center follows more people with this condition than anywhere in the world and maintains a huge database of clinical findings and outcomes. Stiff man syndrome and related conditions hansmichael meinck, md,1 and philip d. In addition, a reduction in spasms and stiffness with symptomatic treatment and. Stiffperson syndrome sps is a rare autoimmune central nervous system disorder characterized by fluctuating rigidity and paroxysmal painful spasms of axial andor limb muscles, due to spinal cord hyperexcitability. Only a handful of clinics around the world address sps, and one is the johns hopkins center. Stiff person syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. 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 person syndrome presenting with sudden onset of shortness of. Successful intrathecal baclofen therapy for seronegative. With encouragement from her older brother, a medical expert at another major hospital, gay made the trip to baltimore and met with dr. What links here related changes upload file special pages permanent link page information wikidata item.
Med any combination of signs and symptoms that are indicative of a particular disease or disorder syndrome, mr. 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. 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. Successful treatment of stiff person syndrome with sequential. Thompson, md2 1department of neurology, im neuenheimerfeld, heidelberg, germany 2university department of medicine and department of neurology, university of adelaide and royal adelaide hospital, adelaide, south australia abstract. Jun 14, 2018 in 1956, moersch and woltmann, who also coined the term stiff man syndrome, first clearly described stiff person syndrome as a neurologic clinical entity at the mayo clinic. Stiff person syndrome sps is a rare autoimmune condition characterized by stiffness and rigidity in the lower limb muscles. Patient 21 had improvement in rankin score after treatment with mycophenolate mofetil, which was initiated after 4 years of symptoms. Apr 27, 2010 stiff person syndrome may not be a common condition.
Stiff person syndrome has been divided into three subgroups stiff trunk man syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity and distinct clinical, electrophysiological, and immunological features. Stiff man syndrome sms also known as moerschwoltman condition. Stiff person syndrome sps is an extremely rare neurological. In 1956, moersch and woltmann coined the term stiff man syndrome. Celebrating relief from stiff person syndrome rush inperson. Changes in blood phosphate after ingestion of glucose and fructose in sprue. A significant treatment effect with ivig was seen, resulting in patients decreased stiffness and heightened sensitivity scores. Stiff person syndrome associated with compartment syndrome. Full text full text is available as a scanned copy of the original print version. May 23, 2019 stiff person syndrome is a neurological disease and autoimmune disorder. A more appropriate name stiff person syndrome sps was later suggested, as the condition affects both sexes, possibly more women than men.