Stiffperson syndrome originally known as stiffman syndrome was first described by moersch and woltman in 1956. Autoantibodies to glutamic acid decarboxylase in a patient with stiff man syndrome, epilepsy, and type i diabetes mellitus. Stiff person syndrome sps is a rare neurological disorder characterized by progressive muscle stiffness and rigidity, mostly involving axial muscles, resulting in. Latent autoimmune diabetes in stiffperson syndrome. There then remain a group of patients who may have the classical stiffman syndrome or a related syndrome. Gad antibody gada positivity is a hallmark of autoimmune diabetes and the rare autoimmune neurological disorder stiffperson syndrome sps. We searched the mayo clinics computerized diagnostic index for patients january 1984 to december 2008 with the following diagnoses. This article provides information about its symptoms.
In recent years, the condition has become more widely known as stiff person syndrome sps. Treatment of the tumor and corticosteroids may result in improvement. Stiffperson syndrome sps is a rare acquired neurological disorder characterized by. To report an association between two autoimmune conditions, graves disease and stiff person stiff man syndrome, and discuss the relevant literature. Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease. 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. Sps is characterized by fluctuating muscle rigidity in the trunk and limbs and a. 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. Diseases that should be differentiated from the stiff person syndrome include chronic tetanus, which is extremely rare.
Another patient became symptom free after treatment for hodgkin lymphoma. Symptoms may include muscle stiffness in the trunk and limbs and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Stiffperson syndrome sps is an autoimmune disease that affects the nervous system. Stiff man syndrome symptoms, diagnosis and treatment.
It causes progressive muscle stiffness and painful spasms that can be triggered by sudden movement or loud noises. Stiffperson syndrome typically progresses, leading to disability and stiffness throughout the body. Being diagnosed with this very rare condition can leave patients and families with many questions and few answers. Prevention of an acute severe exacerbation of stiffperson. Even though it is a rare condition it causes significant morbidity and mortality. 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. Historical perspective it was originally described by moersch and woltman in 1956 as stiffman syndrome. Stiffman 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. The stiff person syndrome sps is a rare disorder characterized by muscular rigidity and stiffness.
Stiffperson syndrome sps, also known as stiffman syndrome sms, is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. It causes progressive muscle stiffness and painful spasms that can be triggered by a variety of things. This gene gives the body instructions to make a large protein called fibrillin1. Stiff person syndrome center johns hopkins hospital. Its presentation with stiffness, limb posturing, and freezing. Stiffperson syndrome sps is a rare disorder, characterized by progressive.
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 limb syndrome mimicking corticobasal syndrome. An overview of stiff person syndrome health hearty. Although rare in general neurology practice, once observed it is unforgettable. Gad65 and gabarap antibodies exist in up to 70% of stiff person patients. Smashwords stiff person syndrome, a simple guide to the. The symptoms of sps range from mild to severe, but can progress into disability if untreated.
This neurological disease thought to be caused by an autoimmune response can leave patients unable to leave home. Stiffperson syndrome sps is a rare neurological disorder with features of an autoimmune disease. A recent series of sps reported the prevalence of t1d at 43% 4. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Spasms can be prolonged and extremely forceful, with the ability to generate enough force to fracture bone. Stiffperson syndrome fact sheet page 2 research findings the cause of stiff person syndrome is unknown. Monitoring antibody titers during the course of treatment is, hence. See more ideas about autoimmune disease, invisible illness and ehlers danlos syndrome. A revised and updated directory for the internet age icon health publications on. Stiff person syndrome is a rare neurological disorder that impacts the nervous system of the body.
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 living forward home facebook. Stiff person syndrome nord national organization for. Stiffperson syndrome neurologic disorders msd manual. The paraneoplastic variant is associated with antiamphiphysin and antigephyrin antibodies. These patients showed characteristic axial muscle contractions and exaggerated, painful stimulusinduced spasms. Pragmatic treatment of stiff person spectrum disorders.
Stiffman syndrome definition of stiffman syndrome by. Gad autoantibodies in iddm, stiffman syndrome, and. She was admitted to hospital as an emergency with prolonged and painful extensor spasms affecting the neck and back, arms, and legs. 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. Gauteng and universitas academic hospital bloemfontein, free. The treatment of sps is directed toward the specific symptoms that are. Stiff person syndrome an overview sciencedirect topics. Thymic abnormalities and stiff person syndrome chest. 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.
Stiff person syndrome sps is a very rare disease affecting only one or two people per million. 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. Moersch and woltman described stiff man syndrome in 1956 in 14 patients with tightness of the back, abdominal and thigh muscles. Stiff person spectrum disorders spsd are a group of rare conditions clinically characterized by.
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 with elevated titers of antibodies. The stiff person syndrome center at johns hopkins department of neurology can offer clarity, effective symptom management and hope for the future. To report an association between two autoimmune conditions, graves disease and stiffperson stiffman syndrome, and discuss the relevant literature.
Net is a website that provides support and information regarding stiff person syndrome sps. Major achievements that contributed to stiff person syndrome sps treatment and research. Stiffperson syndrome sps is an autoimmune disease that affects the brain and spinal cord. Stiff man syndrome is an unusual disorder characterized by progressive muscle. Rosenfeld, in abeloffs clinical oncology fifth edition, 2014. Pdf pstiff person syndrome sps is a rare, debilitating condition which. Stiff person syndrome definition stiff person syndrome sps is an extremely rare progressive neurological disorder characterized by persistent rigidity and spasms of certain voluntary muscles. A patient exhibiting many typical features of stiff man syndrome had intermittent symptoms for 22 years before the correct diagnosis was made.
Review of 23 patients affected by the stiff man syndrome. Moerschwoltmann syndrome, stiff person syndrome or sps. Whether these cases represent the end of a spectrum or etiologically distinct entities is an unanswered question. The age that symptoms begin can vary, but most people start experiencing symptoms between ages 30 and 60. Gad65 and gabarap antibodies exist in up to 70% of stiffperson patients. Stiffperson syndrome fact sheet page 2 research findings the cause of stiffperson syndrome is unknown. This article cites 23 articles, 6 of which you can access for free at. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for stiff person syndrome. 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.
Stiff person syndrome sps is a rare central nervous system disorder with an annual incidence of 1. The disease had progressed despite a favourable initial response to conventional treatment with intravenous. Treatment of stiff person syndrome with rituximab journal. The official patients sourcebook on stiffperson syndrome. Stiff man syndrome an overview sciencedirect topics. 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. Autoantibodies to glutamic acid decarboxylase in a patient with stiffman syndrome, epilepsy, and type i diabetes mellitus. Historical perspective it was originally described by moersch and woltman in 1956.
Stiff man syndrome is a rare motor function disorder characterized by involuntary stiffness of axial muscles and superimposed painful muscle spasms. Gad autoantibodies in iddm, stiffman syndrome, and autoimmune polyendocrine syndrome type i recognize different epitopes elisabeth bjork licio a. Stiffperson syndrome sps, formerly called stiffman syndrome is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and spasm involving the axial. Stiff person 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. Stiff person syndrome sps affects only about one or two in a million people. Diagnosis is based on the recognition of typical clinical features and characteristic emg findings. The moerschwoltman syndrome, initially called stiff man syndrome, is now commonly known as stiff person syndrome. It is majorly characterized by an autoimmune disease and fluctuating muscle rigidity. Formerly called stiff man syndrome and sometimes called moerschwoltman syndrome, stiff person syndrome sps is a rare acquired neurologic disorder. We describe an sps patient presenting with longstanding fatigue and electrophysiological evidence of.
Sep 21, 2017 stiff skin syndrome sss is a genetic syndrome caused by changes mutations in the fbn1 gene. The eponym for this syndrome is moersch woltmann syndrome. The stiff man and stiff man plus syndromes springerlink. Stiff person syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. Stiff skin syndrome genetic and rare diseases information. 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. Diagnosis of stiff person syndrome is based on recognizing the symptoms and is supported by. Concomitant sps and classical type 1 diabetes t1d have been described in case reports. Stiff person syndrome genetic and rare diseases information. Apr 09, 2020 stiff person syndrome sps is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. The general neurologist may see only one or two cases during his or her career.
Stiffman syndrome article about stiffman syndrome by. The synaptic vesicleassociated protein amphiphysin is the 128kd autoantigen of stiffman syndrome with breast cancer. Incredibles wannabe sidekick turned bad guy, from the incredibles. 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. Pdf stiffperson syndrome or moerschwoltmann is a very rare and.
However, the presence of alternative forms of autoimmune diabetes, such as latent. Stiff person syndrome symptoms, treatment, prognosis, causes. Stiff limb syndrome sls is a focal variant of the spectrum of stiff person syndrome. Stiff limb syndrome mimicking corticobasal syndrome balint. 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. 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. 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. Formerly called stiffman syndrome and sometimes called moerschwoltman syndrome, stiffperson syndrome sps is a rare acquired neurologic. Stiffperson syndrome sps is a rare neurological disorder characterized by. Among the patients, the median rankin score was 3 at the initial evaluation and at. Anders karlsson glutamic acid decarboxylase gad is a major islet cell autoantigen in insulindependent diabetes mellitus iddm, and autoantibodies are found in high frequencies in patients with recentonset iddm, stiffman.
Stiff man syndrome is a neuromuscular condition in which a hyperactive startle reflex results in the contraction of the. Classic stiff person syndrome sps features stiffness, antiglutamic acid. Stiff man syndrome sms was the name assigned to the condition when first identified in the 1950s by moersch and woltman in the usa. This protein works in the spaces between the cells the extracellular matrix to help form elastic fibers which enable the skin, ligaments, and blood vessels to stretch. Stiff man syndrome presenting with low back pain annals of. Stiff person syndrome is a rare neurological disorder. Methods twenty three patients referred over a 10 year period with rigidity and spasms in association with continuous motor unit. 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. Stiffperson syndrome journal of movement disorders. Higher autoantibody levels and recognition of a linear nh2terminal epitope in the autoantigen gad65, distinguish stiffman syndrome from insulindependent diabetes mellitus. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility.
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. It has a strong association with other autoimmune diseases e. Dec 26, 2019 this book describes stiff person syndrome, diagnosis and treatment and related diseases unlike the fibrodysplasia ossificans progressiva stone man syndrome which i wrote about a few months ago, this stiff man syndrome is more an autoimmune disease of the neurological disorder that affects the brain and spinal cord causing the person to be stiff due to muscle spasms they are completely different. Stiffperson syndrome sps is a rare acquired neurological disorder characterized by progressive muscle stiffness rigidity and repeated episodes of painful muscle spasms. Stiff man syndrome sms is a rare, disabling neurological disorder characterised by progressive muscle rigidity and painful episodic spasms of the axial and proximal limb muscles. 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. In the ed, the diagnosis can be easily overlooked and misdiagnosed as acute or chronic low back pain and muscle spasm. Stiff man syndrome sms is a rare autoimmune disease characterized by axial stiffness, painful spasms, and positivity for antigad or antiamphiphysin antibodies. Stiff man syndrome sms was the name assigned to the condition when first. 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. Epidemiology onset is usually between 30 and 50 years of age. Their mission is to help people better understand and learn how to gather. Approximately 6080% of sps patients are seropositive for antibodies against glutamic.