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