Stiff person syndrome an overview sciencedirect topics. 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 sps is a rare disorder characterized by continuous motor unit activity at rest and painful spasms in response to sound, touch, or electric stimulation. Stiff person syndrome also known as sps affects only one to three people per million, most of whom are women. Jul 29, 2008 the clinical findings of stiff person syndrome sps include trunk and limb muscle stiffness and paroxysmal cramps. Stiffperson syndrome originally known as stiffman syndrome was first described by moersch and woltman in 1956. Like other types of neurological disorders, sps affects your brain. Stiff persons with plus signs, particularly those with rigidity of a distal limb, are unlikely to have the classical stiff man syndrome. We describe the use of the anticd20 antibody, rituximab, in a 41 year old woman with stiff person syndrome.
Net is a website that provides support and information regarding stiff person syndrome sps. Stiff person syndrome genetic and rare diseases information. The resulting initial 706 citations were narrowed to 72 after excluding nonenglish papers, duplicate reports, and papers published before 2010. Highdose benzodiazepines or baclofen are widely considered the optimal initial therapy. We report a patient with sps and antigad antibodies antigadabs with a prominent supranuclear gaze palsy and bradykinesia mimicking progressive supranuclear palsy psp. 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 clinical findings of stiffperson syndrome sps include trunk and limb muscle stiffness and paroxysmal cramps. Stiff person syndrome sps is a very rare disease affecting only one or two people per million.
For language access assistance, contact the ncats public information officer. Multiple similar case descriptions have since followed. Rituximab induces remission in stiff person syndrome. Stiffperson syndrome sps, also known as stiffman syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. 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. Use this link to search for stiff person syndrome groups.
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 presenting with sudden onset of. Chronic pain, impaired mobility, and lumbar hyperlordosis are common symptoms. The first report of successful treatment with a monoclonal antib cell antibody may offer new hope for patients with stiff person syndrome, a rare but ultimately fatal autoimmune disease of the cns. Griffin, in cerebrospinal fluid in clinical practice, 2009. The next conference will be on may 16, 2021 click on events above. Its most likely to strike people who are already living with autoimmune disorders such as type 1 diabetes. It causes progressive muscle stiffness and painful spasms that can be triggered by sudden movement or loud noises. Stiff person syndrome support providing information and. She was admitted to hospital as an emergency with prolonged and painful extensor spasms affecting the neck and back, arms, and legs. The age that symptoms begin can vary, but most people start experiencing symptoms between ages 30 and 60.
Stiff person support this website provides information and resources for all those diagnosed with stiff person syndrome sps. Monoclonal antibody specific for b cells expressing cd20 antigen rituximab alleviated severe symptoms when other treatments failed. The eponym for this syndrome is moersch woltmann syndrome. Stiff person syndrome sps, which was first reported by moersch and woltman in 1956,1 is a rare neurological disorder characterized by rigidity and fluctuating muscle spasms primarily in the axial musculature and lower extremities. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. This page is a variety of topics on livingcoping with a rare disorder like stiff person syndrome sps, or any chronic. Their first patient was a 49yearold iowa farmer who presented to the mayo clinic, rochester, minnesota in 1924 with muscle stiffness and difficulty walking. Stiff person syndrome is a neurological disease and autoimmune disorder. A 40year male was admitted due to limited mouth opening for 1 week. Stiff person syndrome is a rare autoimmune movement disorder that affects the central nervous system the brain and spinal cord. The cause of stiff person syndrome is unknown but an autoimmune mechanism is suggested because of presence of. May 23, 2019 stiff person syndrome is a neurological disease and autoimmune disorder. The general neurologist may see only one or two cases during his or her career.
Its a diagnosis of exclusion, explains scott newsome, d. Even though it is a rare condition it causes significant morbidity and mortality. 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. The result of constant spasms is unrelenting pain and commonly, eventual disability. This study was designed to determine the benefits of pt in cases with sps through analysis of case reports, thereby to raise awareness among physical therapist. 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.
Stiff person syndrome nord national organization for rare. The stiff person syndrome sps is a rare and debilitating autoimmune disorder with an unknown pathogenesis and variable clinical. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. It is caused by increased muscle activity due to decreased inhibition of the central nervous system cns that results from the. First described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles.
This article provides information about its symptoms, diagnosis, treatment, and prognosis. It is caused by increased muscle activity due to decreased inhibition of the central nervous system cns that. Stiff person syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. Symptoms of stiff person syndrome include heightened sensitivity to stimuli and fluctuating muscle rigidity. Physical therapist management of stiff person syndrome in. Is stiff person syndrome benefited by physical therapy. Stiff person syndrome sps is a rare disorder characterized by involuntary muscular rigidity and episodic spasms. Find local stiff person syndrome resources for the top u. These patients showed characteristic axial muscle contractions and exaggerated, painful stimulusinduced spasms. We searched the mayo clinics computerized diagnostic index for patients january 1984 to december 2008 with the following diagnoses. Stem cell transplant for stiff person syndrome jama network.
Historical perspective it was originally described by moersch and woltman in 1956 as stiffman syndrome. Stiffperson syndrome sps is an uncommon neurological disorder characterized by significant rigidity and muscle spasms primarily affecting the truncal and proximal musculature. Between 2000 and 2005, only 119 cases were identified in the united kingdom. 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. We report a patient with sps and antigad antibodies antigadabs with a prominent supranuclear gaze palsy and bradykinesia mimicking progressive. This syndrome affects both sexes equally, with an average age at diagnosis of 40 years. The paraneoplastic variant is associated with antiamphiphysin and antigephyrin antibodies. Some groups are open as in open to the public so everyone can see you and what you post.
Some have a paraneoplastic aetiology, while a nonmalignant autoimmune basis seems likely in others. Stiff person syndrome nord national organization for. A 27yearold hispanic woman presented to our emergency department. Their first patient was a 49yearold iowa farmer who presented to the mayo clinic, rochester, minnesota in 1924 with muscle stiffness and. This orphan is known as stiff person syndrome sps although actually an autoimmune disease, it is most often treated by a neurologist. Single page description of stiff person syndrome, a rare disease, found in only one in one million people, worldwide. 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. Stiffness spasms later become continuous, precipitated by voluntary movements and preventing normal gait folli, 1998. 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. The 2020 sps annual awareness conference is canceled. Stiff person syndrome sps is a rare disease characterized by stiffness of skeletal muscles, episodic painful muscle spasms, and, in severe cases, prevention of volitional movements and ambulation. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. 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.
It is interesting to be aware that there is no randomized clinical trials rct research article except a few casestudy reports which have been reported about the physical therapy pt intervention for stiff person syndrome sps. Furthermore, a widebased gait with functional impairment is generally seen. Stiff person syndrome sps is a rare autoimmune condition characterized by stiffness and rigidity in the lower limb muscles. Stiff person syndrome sps is a rare disorder, characterised by. It is characterized by rigidity andor spasticity of the skeletal muscles, tremors, and anxiety. Apr 09, 2020 stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. The disease had progressed despite a favourable initial response to conventional. Plasmapheresis in the treatment of stiffman syndrome. 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. Intravenous immunoglobulin ivig has been proven to be very effective in reducing the symptoms associated with sps, most notably stiffness. Find local stiffperson syndrome resources for the top u. 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.
Antibodies directed against glutamic acid decarboxylase gad has been associated with sps. Spasms can be prolonged and extremely forceful, with the ability to generate enough. Although rare in general neurology practice, once observed it is unforgettable. Introduction stiff man syndrome was first described in 1956 by moersch and woltman. 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 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. Stiff person syndrome is a rare disorder characterized by rigidity of axial or limb muscles and episodes of cocontraction of agonist and antagonist muscles during spasms as a result of involuntary motor unit discharges at rest. The stiff person syndrome sps, also known as stiff man syndrome is a very rare disease related to the nerves.
Personal stories about living with sps are also shared. This means we have access to the latest knowledge in stiff person syndrome and can apply that insight to each patient. Patients report being able to walk for the first time in months or even. Symptoms of stiffperson syndrome include heightened sensitivity to stimuli and fluctuating muscle rigidity. Significant improvement of stiffperson syndrome after paraspinal injection of botulinum toxin a. Mar 27, 2019 stiff person syndrome sps is a rare neurological disorder with features of an autoimmune disease. Table 1 other autoantibodies associated with stiff person syndrome sps1012 gephyrin present in a very small proportion of the paraneoplastic variant. Utility of botulinum injections in stiffperson syndrome. It is believed to have an autoimmune pathogenesis, as antibodies that react to glutamic acid decarboxylase gad or to ampiphysin have been linked to this. Stiffperson syndrome information page national institute. It is a postsynaptic cellular protein responsible for clustering of two inhibitory neurotransmitters.
Their mission is to help people better understand and learn how to gather information to share with their health care providers to facilitate a diagnosis. They reported observations from 14 cases of patients who experienced progressive. Gad65 and gabarap antibodies exist in up to 70% of stiffperson patients. Stiff person syndrome sps, stiff limb syndrome, jerking sps and progressive encephalomyelitis with rigidity and myoclonus perm are a family of rare, insidiously. Houston texas physician directory stiffperson syndrome is a rare neurological disorder that is often associated with autoimmune conditions such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Stiffman syndrome is of spinal or brainstem origin and shows evidence of being an autoimmune disease. Vicari am, folli f, pozza g, comi gc, comola m, canal n, besana c, borri a, tresoldi m, solimena m, et al. This study was designed to determine the benefits of pt in cases with sps through analysis of case reports, thereby to raise awareness among.
However, its also regarded as an autoimmune disease. We reported a stiff person syndrome sps patient with elevated autoantibodies against cardiolipin and. Stiffperson syndrome fact sheet page 2 research findings the cause of stiffperson syndrome is unknown. 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. If you have problems viewing pdf files, download the latest version of adobe reader. The management of stiff person syndrome is difficult and although success has been reported with the use of plasmapheresis, immunoglobulin, and some cytotoxic agents, most patients continue to follow a relentless and ultimately fatal course. 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. In the united states, a rare or orphan disease is defined by the national organization of rare diseases nord as a disorder affecting less than 200,000. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease.
Mar 04, 2016 of note, searching for stiff man syndrome yielded the same results as searching for stiff person syndrome. The moerschwoltman syndrome, initially called stiffman. To raise public stiff person syndrome awareness about the daily. Stiff person syndrome living forward home facebook. Stiff person syndrome is a rare neurological disorder. The advantage of the closed groups is that only members of the group can see the posts. Whether these cases represent the end of a spectrum or etiologically distinct entities is an unanswered question. Stiff person syndrome sps is a rare disorder characterized by continuous motor unit activity at rest and painful spasms in response to sound, touch, or electric stimulation.
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