Stiff-person syndrome (SPS), also known as stiff-man syndrome (SMS),[1] is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. Variants of the condition, such as stiff-limb syndrome which primarily affects a specific limb, are often seen. Ana Claudia Rodrigues de Cerqueira; José Marcelo Ferreira Bezerra; Márcia Rozentha; Antônio Egídio Nardi, "Stiff-Person syndrome and generalized anxiety disorder", European Federation of Neurological Societies, "Autologous Stem Cell Transplantation for Stiff Person Syndrome", "Autologous haematopoietic stem cell transplantation for neurological diseases", "Autoimmune Stiff Person Syndrome and Related Myelopathies: Understanding of Electrophysiological and Immunological Processes", Stiff-Person Syndrome Information Page at NINDS, https://en.wikipedia.org/w/index.php?title=Stiff-person_syndrome&oldid=993600280, Creative Commons Attribution-ShareAlike License, Spinal muscular atrophy with lower extremity predominance (SMALED), This page was last edited on 11 December 2020, at 13:26. Stiff Man Syndrome is a neuromuscular condition in which a hyperactive startle reflex results in the contraction of the muscles, thus causing violent spasms.These spasms are capable of slamming the victim into walls and furniture. [34] In carefully selected cases of severe, treatment refractory SPS, HSCT may be an effective therapeutic option. [2] There is no specific laboratory test that confirms its presence. Stiff person syndrome (SPS) is a neurological disease with autoimmune features. [27], There is evidence of genetic risk of SPS. [22] The overwhelming majority of people who have GAD antibodies do not contract SPS, indicating that systematic synthesis of the antibody is not the sole cause of SPS. [36] These deaths are usually caused by metabolic acidosis or an autonomic crisis. Since its initial description in 1956, marked progress has been made in the clinical characterisation, understanding of pathogenesis and therapy of this disorder. The Stiff Person Syndrome Research Foundation mission is to raise awareness and support research to cure Stiff Person Syndrome for every patient. [5] Chronic pain is common and worsens over time but sometimes acute pain occurs as well. Stiff person syndrome (SPS) is a very rare disease affecting only one or two people per million. There is cerebellar and brainstem involvement. Stiff person syndrome (SPS) affects only about one or two 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. [2], SPS was first described by Moersch and Woltman in 1956. Questions sent to GARD may be posted here if the information could be helpful to others. Anti-thyroid, anti-intrinsic factor, anti-nuclear, anti-RNP, and anti-gliadin are also often present in blood tests. glutamic acid decarboxylase (GAD) antibodies. Diagnostic criteria were proposed in the 1960s and refined two decades later. in 1967. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. Stiff man syndrome is a chronic disorder involving stiffness and painful spasms of the trunk. [5] It later affects the proximal leg and abdominal wall muscles. One commonly used test is a blood test to detect the presence of glutamic acid decarboxylase (GAD) antibodies. Online directories are provided by the. Spasms can generate enough force to fracture bone. [24] The first case of paraneoplastic SPS was found in 1975. 2020-10-21, Indianapolis, IN, USA, ‘I often can’t move’: What it’s like to live with stiff person syndrome. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. [29], A variety of conditions have similar symptoms to SPS, including myelopathies, dystonias, spinocerebellar degenerations, primary lateral sclerosis, neuromyotonia, and some psychogenic disorders. National Institute of Neurological Disorders and Stroke, Online Mendelian Inheritance in Man (OMIM). [24] Most SPS patients with high-titer GAD antibodies also have antibodies that inhibit GABA-receptor-associated protein (GABARAP). Do you know of an organization? Alternative names: Moersch-Woltmann Syndrome, Stiff Person Syndrome or SPS. Women appear to be affected more than men. With stiff person syndrome, the spinal cord and the tissues in the brain are affected. Stiff Person Syndrome - SPS has 2,475 members. Other common treatments include baclofen, intravenous immunoglobin and rituximab. The primary findings in SPS include progressive axial muscle rigidity as well as muscle spasms. [17] In one group of 127 patients, only 11 of them had paraneoplastic symptoms. [2] Late in the disease's progression, hypnagogic myoclonus can occur. [10] About 65 percent of SPS patients are unable to function independently. https://my.clevelandclinic.org/health/articles/6076-stiff-person-syndrome These are referred to as GAD (glutamic acid decarboxylase antibodies). Stiff-person syndrome is more common among women and often occurs in people with type 1 diabetes, certain autoimmune disorders (such as thyroiditis), or certain kinds of cancer, including breast cancer (most commonly), lung cancer, kidney cancer, thyroid cancer, colon cancer, and Hodgkin lymphoma. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. We remove all identifying information when posting a question to protect your privacy. [40] The name of the disease was shifted from "stiff-man syndrome" to the gender-neutral "stiff-person syndrome" in 1991. Have a question? [7] Underdiagnosis and misdiagnosis are common. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. Motor unit potentials fire while the patient is at rest, particularly in the stiff muscles. [2] Autoantibodies against amphiphysin and gephyrin are also sometimes found in SPS patients. The disorder is characterized by stiffness and rigidity, along with painful spasms. [4] The muscle stiffness initially fluctuates, sometimes for days or weeks, but eventually begins to consistently impair mobility. [38] Two years later, Solimena found the antibodies in 20 out of 33 patients examined. Stiff–Person Syndrome. [2] Tetanus, neuroleptic malignant syndrome, malignant hyperpyrexia, chronic spinal interneuronitis, serotonin syndrome,[30] Multiple sclerosis, Parkinson's disease,[22] and Isaacs syndrome should also be excluded. [2] The excessive firing of motor neurons may be caused by malfunctions in spinal and supra-segmental inhibitory networks that utilize GABA. Stiff person syndrome is a devasting, painful condition that can create more stress for the person with the rare condition. We also encourage you to explore the rest of this page to find resources that can help you find specialists. The HPO collects information on symptoms that have been described in medical resources. Electromyography (EMG) demonstrates involuntary motor unit firing in SPS patients. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. [37] Even with treatment, quality of life generally declines as stiffness precludes many activities. It often decreases stiffness and improves quality of life and startle reflex. [30], Patients' fears and phobias often incorrectly lead doctors to think their symptoms are psychogenic,[6] and they are sometimes suspected of malingering. [25] The amount of GAD antibody titers found in SPS patients does not correlate with disease severity,[21] indicating that titre levels do not need to be monitored. Most patients have upper motoneuron issues and autonomic disturbances. You can find more tips in our guide, How to Find a Disease Specialist. https://www.ninds.nih.gov/Disorders/All-Disorders/Stiff-Person-Syndrome-Information-Page#disorders-r1, https://www.uptodate.com/contents/stiff-person-syndrome, http://emedicine.medscape.com/article/1172135-overview, http://rarediseases.org/rare-diseases/stiff-person-syndrome/, http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neuroimmunology_and_neurological_infections/conditions/stiff_person_syndrome.html, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3198, http://jamanetwork.com/journals/jamaneurology/fullarticle/1897093, https://www.ncbi.nlm.nih.gov/pubmed/15210528. Living with a genetic or rare disease can impact the daily lives of patients and families. [22], In a minority of patients with SPS, breast, ovarian, or lung cancer manifests paraneoplasticly as proximal muscle stiffness. 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 … [2] Corticosteroids were first used to treat the condition in 1988, and plasma exchange was first applied the following year.
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