Stiff man syndrome an overview sciencedirect topics. 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. Gad65 and gabarap antibodies exist in up to 70% of stiff person patients. Stiff person syndrome sps affects only about one or two in a million people. Stiff person syndrome living forward home facebook. Stiffperson syndrome information page national institute. There are no specific recommendations regarding blood transfusion in stiff man syndrome. May 23, 2019 stiff person syndrome is a neurological disease and autoimmune disorder. The muscle spasms occur randomly or can be triggered by noise, emotional distress and light physical touch.
Stiffperson syndrome sps, also known as stiff man syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. 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. Apr 09, 2020 stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Physical therapist management of stiff person syndrome in a. Plasma exchange and immunosuppression in the stiff man syndrome. Stiff person syndrome is a rare neurological disorder. When sps affects only one specific area of the body, it may also be referred to as focal or partial stiffperson syndrome. Latent autoimmune diabetes in stiffperson syndrome. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Stiff person syndrome sps is a rare autoimmune condition characterized by stiffness and rigidity in the lower limb muscles. Stiffman syndrome is of spinal or brainstem origin and shows evidence of being an autoimmune disease. Gada is recognized as a biomarker of value for clinical diagnosis and prognostication in these diseases. However, none of these therapies have proven to be significantly effective.
Stiff man syndrome is an unusual disorder characterized by progressive muscle stiffness, aching, muscle spasms, and rigidity. An autoimmune disorder affecting neurotransmission of gaminobutyric acid moderator. Introduction stiff man syndrome was first described in 1956 by moersch and woltman. There are no specific recommendations regarding anticoagulation prophylaxis. Patients with stiffperson syndrome develop fluctuating rigidity of the axial musculature with spasms precipitated by emotional, auditory, or somesthetic stimuli. Eye movements problems were described in antigad related stiff person syndrome, which is due to gaba depletion. 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. Stiff person syndrome fact sheet syndrome description the initial definition of stiff person syndrome included axial stiffness and rigidity with superimposed spasms believed to be associated with antigad antibodies. Concomitant sps and classical type 1 diabetes t1d have been described in case reports. Stiff person syndrome center johns hopkins hospital.
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 man syndrome is a progressive disease recognised as affecting about 1. The stiffness develops over a period of months and is most prominent in the paraspinal muscles and lower limbs. Jerking stiffperson syndrome is characterized by muscles stiffness and spasms usually affecting the legs. Stiff person syndrome, sps chronic neurologic disorder 1. This is a case report of a 57yearold female who presented to the accident and emergency department with a one day history of vertical diplopia and a two week history of lower limb spasticity secondary to muscle spasms.
The stiff person syndrome center at johns hopkins department of neurology can offer clarity, effective symptom management and hope for the future. Multiple similar case descriptions have since followed. The term stiff person may be seen to exclude infants, and stiff man is inappropriate. Stiffpersonsyndromeinformationpage national institute. Initially, the symptoms and signs of the disorder are described along with the associated electrophysiologic findings, and clinical diagnostic criteria are established. Stiffperson syndrome fact sheet page 2 research findings the cause of stiff person syndrome is unknown. Stiff person syndrome nord national organization for rare. Monica b pagano, md transfusion medicine fellow the johns hopkins medical institutions may 23th 20 therapeutic plasma exchange in the treatment of stiff person syndrome. However, up to 40% of patients lacked the glutamic acid decarboxylase antibodies constituting what was believed to be an anti. The stiffness develops over months and is most prominent in the paraspinal muscles and lower limbs. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. Nonetheless, it remains medically interesting to develop sensitive and specific assays to. However, its also regarded as an autoimmune disease.
Stiff person syndrome, also called moerschwoltman syndrome and formerly stiff man syndrome, can also cause painful muscle spasms. This orphan is known as stiff person syndrome sps although actually an autoimmune disease, it is most often treated by a neurologist. Sep 01, 2011 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. The moerschwoltman syndrome, initially called stiff man syndrome, is now commonly known as stiff person syndrome. However, the presence of alternative forms of autoimmune diabetes, such as latent. This article provides information about its symptoms, diagnosis, treatment, and prognosis. Intravenous immunoglobulin ivig for the treatment of stiff. Dalakas, md, and mary kay floeter, md, phd the stiff person syndrome, a rare and disabling disorder, is characterized by muscle rigidity and episodic spasms that involve axial and limb. Objective to comprehensively describe the characteristics of a cohort of patients with sms. Stiff person syndrome sps is a disorder characterized by fluctuating muscle rigidity and painful spasms that occur spontaneously or are triggered by diverse stimuli.
This us government site brings together sps and spsrelated links across the internet. Lordosis is also considered as a condition as part of this paper. 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. Stiff person syndrome sps is a very rare disease affecting only one or two people per million. 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. Mar 04, 2016 introduction stiff man syndrome was first described in 1956 by moersch and woltman. Two women with typical stiff man syndrome sms developed increasingly frequent attacks of muscle spasms with severe paroxysmal autonomic dysfunctions such as transient hyperpyrexia, diaphoresis. These patients showed characteristic axial muscle contractions and exaggerated, painful stimulusinduced 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 sps is a rare and disabling disorder characterized by muscle rigidity and epi sodic spasms involving the axial and limb musculature. Therapeutic plasma exchange in the treatment of stiff person. Stiffperson syndrome journal of movement disorders. Liz blows chair, 75 normandy avenue, beverley, east yorkshire, hu17 8pf stiff man syndrome support group and charity is notforprofit charity number. To raise public stiff person syndrome awareness about the daily challenges living with this rare disease. It is a postsynaptic cellular protein responsible for clustering of two inhibitory neurotransmitters. 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. Classic stiff person syndrome sps features stiffness, antiglutamic acid decarboxylase antigad antibodies, and other. This study will attempt to determine the effectiveness of intravenous immunoglobulin ivig for the treatment of stiffmann syndrome.
Over time, stiff person syndrome can lead to an altered posture. University of central florida, ucf college of medicine corresponding author. Stiff person syndrome sps is a rare autoimmune neurologic disorder characterized by painful tonic spasms in systemic skeletal muscles. Standard of care stephen rineer, timothy fretwell 1. We describe the use of the anticd20 antibody, rituximab, in a 41 year old woman with stiff person syndrome. Anesthesia recommendations for patients suffering from.
Thymectomy for paraneoplastic stiffperson syndrome. Moersch and woltman described stiff man syndrome in 1956 in 14 patients with tightness of the back, abdominal and thigh muscles. This page is a variety of topics on livingcoping with a rare disorder like stiff person syndrome sps, or any chronic. Paraneoplastic stiff man syndrome also known as moerschwoltmann syndrome is a rare progressive neurological disorder characterized by progressive rigidity and stiffness of the axial musculature, associated with painful spasms, primarily in the lower limbs, neck and trunk. Because sps is a rare disorder, the efficacy of physiotherapy in the management of sps is not yet known.
Stiff man syndrome is of spinal or brainstem origin and shows evidence of being an autoimmune disease. It is characterized by rigidity andor spasticity of the skeletal muscles, tremors, and anxiety. Although rare in general neurology practice, once observed it is unforgettable. In recent years, the condition has become more widely known as stiff person syndrome sps.
Stiffperson syndrome, also known as stiffman syndrome sms or the moerschwoltman syndrome, was first described in 1956. Stiff man syndrome, morsch woltman syndrome, sps, moerschwoltman syndrome, sms, stiff person syndrome and related disorders back to top. Her stiffness and rigidity improved briefly following her chemotherapy. Patients with stiff person syndrome with rituximab vs.
Stiffperson syndrome or moerschwoltmann is a very rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms involving axial and limb musculature. Backgroundlittle information is available about the incidence of stiffman syndrome sms the classic form or its variants or about longterm treatment respon. However it would be appropriate to consider them under high risk due to nature of the disease and the associated mobility issues. 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. The stiff person syndrome sps, also known as stiff man syndrome is a very rare disease related to the nerves.
Treatment of stiff person syndrome with rituximab journal. Stiffperson syndrome sps is a rare disorder, characterized by progressive fluctuating muscular rigidity and spasms. Like other types of neurological disorders, sps affects your brain. Stiff person syndrome facebook group genetic and rare. Therapeutic plasma exchange in the treatment of stiff. The patient was a 65yearold female with sps diagnosed 1 year before. Moersch and woltman syndrome, stiff limb syndrome, stiff trunk syndrome, perm progressive encephalomyelitis with rigidity and myoclonus a rare, disabling neurological disease. Sps originally stiff man syndrome was first described by moersch and woltman in 1956.
Stiff person syndrome is a neurological disease and autoimmune disorder. To report a case of sudden onset vertical diplopia, blurred vision, and muscle spasms. Rasmussen syndrome renal transplantation, prevention of acute humoral rejection rheumatoid arthritis, severe rotaviral enterocolitis staphylococcal toxic shock stiff person syndrome thrombocytopenia, secondary to hcv, hiv, or pregnancy toxic epidermal necrolysis or stevensjohnson syndrome. Stiff person syndrome nord national organization for. 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. Stiff person syndrome sps is a rare neurologic disease manifested by persistent muscle contractions causing marked rigidity in the affected individual. 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. Even though it is a rare condition it causes significant morbidity and mortality. Symptoms of stiffperson syndrome include heightened sensitivity to stimuli and fluctuating muscle rigidity. Stiffperson syndrome sps, formerly called stiffman syndrome is an uncommon disorder characterized by progressive muscle stiffness. Mar 27, 2019 stiff person syndrome sps is a rare neurological disorder with features of an autoimmune disease. This means we have access to the latest knowledge in stiff person syndrome and can apply that insight to each patient. A recent series of sps reported the prevalence of t1d at 43% 4.
Some individuals may eventually develop classic stiffperson syndrome or variant sps. Stiff person syndrome sps is a rare autoimmune neurological disorder presenting with inability to perform daily activities independently. Table 1 other autoantibodies associated with stiff person syndrome sps1012 gephyrin present in a very small proportion of the paraneoplastic variant. Stiff man syndrome, a rare disorder characterized by intermittent spasms and stiffness of the axial muscles, is associated with an electromyographic pattern of continuous motor unit activity in. Pmc free article harding ae, thompson pd, kocen rs, batchelor jr, davey n, marsden cd. This is first everreported case where eye movement problem stiff eyes is the initial presentation of a antiamphiphysin antibody related stiff person syndrome.
The usagov link left goes directly to the site section about sps and is preloaded with a search for anything stiff person syndrome. Inpatient physiotherapy management for stiffperson. Stiffperson syndrome information page what research is being done. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease. Being diagnosed with this very rare condition can leave patients and families with many questions and few answers. Stiffperson syndrome is a rare neurological disorder that is often associated with autoimmune conditions such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Progressive fluctuating muscular rigidity and spasm stiff man syndrome. Steroids, plasmapheresis, and intravenous immunoglobulin ivig have been given to relieve some of the symptoms of stiffman syndrome. Gad antibody gada positivity is a hallmark of autoimmune diabetes and the rare autoimmune neurological disorder stiffperson syndrome sps. Stiff man syndrome uk and ireland support group and charity. Jun 14, 2018 clinically, stiff person syndrome is characterized by muscle rigidity that waxes and wanes with concurrent spasms. In most people with stiff person syndrome, the trunk and abdomen muscles are the first to become stiff and enlarged. Stiff person syndrome genetic and rare diseases information.
Stiff person syndrome sps is characterized by rigidity of the truncal muscles with superimposed episodic and often painful muscle spasms. In the first 30 pages, there are 600 randomly arranged links, not all of which are sps relatedconnected. Subsequently, a circulating antibody is detected in a substantial percentage of patients, and hypotheses are formulated. Stiff person syndrome an overview sciencedirect topics. This rare disease causes muscle rigidity, stiffness and lordosis. Stiff person syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. The understanding of antibodymediated neurologic diseases often emerges from a typical sequence of events. Stiff man syndrome sms was the name assigned to the condition when first identified in the 1950s by moersch and woltman in the usa. Stiff person syndrome sps, first described in 1956 by moersch and woltman, is a progressive autoimmune disorder with core features of chronic fluctuating progressive truncal and limb rigidity and painful muscle spasms leading to gait difficulties, falls and an. An overview of stiff person syndrome health hearty. The paraneoplastic variant is associated with antiamphiphysin and antigephyrin antibodies. 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. If you have problems viewing pdf files, download the latest version of.
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