Theres currently no cure for stiff person syndrome. But researchers suspect that it may be the result of an autoimmune reaction where the body attacks nerve cells in the central nervous system that control muscle movement. Our specialized center, led by Scott Newsome, D.O., combines experts in neurology, immunology, ophthalmology, neuromuscular disease and other specialties to offer comprehensive care for people with SPS. 2009 S. Karger AG, Basel (Switzerland). Stiff person syndrome is characterized by muscle rigidity and spasms, heightened sensitivity to stimuli such as sound and lights, and emotional distress that can cause muscle spasms,. Stiff-person syndrome symptoms can develop at any age but are most common between 30 and 60. What signs of complications should I look out for? If left untreated, SPS can potentially progress to cause difficulty walking and significantly impact a persons ability to perform routine, daily tasks. Comparisons may be useful for a differential diagnosis. Most people start experiencing symptoms between the ages of 30 and 60. Share. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Paraneoplastic stiff-person syndrome is thought to be immune-mediated and is typically associated with a different auto-antibody (called anti-amphiphysin) than is found in individuals with classic stiff-person syndrome. These symptoms can fluctuate in severity without a clear reason or trigger. April 27, 2022 It may take some time to find the right combination of medications, though, since not everyones body responds the same way. The two main symptoms of stiff person syndrome are: SPS symptoms can spread to other areas of your body and/or get worse over time. The legs are often involved, which may lead to falls. I likely had signs prior to last year. sensory . Neurology. Alberca R, Romero M, Chaparro J. Jerking stiff-man syndrome. Quincy, MA 02169 People with SPS may also have greater sensitivity to noise, touch, and emotional distress. People with SPS often develop mental and emotional symptoms alongside physical symptoms, which can greatly affect their quality of life. How Viagra became a new 'tool' for young men, Ankylosing Spondylitis Pain: Fact or Fiction, https://medlineplus.gov/ency/article/000816.htm#, https://www.ncbi.nlm.nih.gov/books/NBK430847/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071570/, https://www.frontiersin.org/articles/10.3389/fneur.2020.529985/full, https://jamanetwork.com/journals/jamaneurology/article-abstract/2511290, https://www.sciencedirect.com/science/article/pii/S0165572822001102, https://www.karger.com/Article/FullText/523988, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790195/, https://www.statpearls.com/ArticleLibrary/viewarticle/134596#, https://www.ninds.nih.gov/health-information/disorders/stiff-person-syndrome, https://www.frontiersin.org/articles/10.3389/fneur.2021.692240/full. Its important to note that the presence of GAD antibodies doesnt mean that someone has SPS. Finally a med student suggested stiff person syndrome. People with SPS can have other symptoms, which are thought to be related to the type of SPS they have. Baker MR, Das M, Isaacs J, Fawcett PRW, Bates D. Treatment of stiff person syndrome with rituximab. It commonly causes muscle stiffness and painful spasms that worsen over time. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. Find resources for patients and caregivers that address the challenges of living with a rare disease, Learn more about the different types of clinical studies, ResearchMatch helps connect people interested in research studies, UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Ways to connect to others and share personal stories, Up-to-date treatment and research information, Lists of specialistsor specialty centers. Jane Lees, 58, lives in Indianapolis and used to work in media. 2002;17:853-866. Immune therapies aim to modify or suppress the immune system. Pain in the back: Preventing and treating spinal arthritis, Mayo Clinic Minute: How losing an hour of sleep can affect your body, Stiff-Person Spectrum Disorders Evaluation, Sharing Mayo Clinic: Diagnosed with stiff-person syndrome. A doctor may make a diagnosis of SPS when there is no better explanation for the symptoms and exam findings. It may be diagnosed after having various tests including blood tests (such as for glutamic acid decarboxylase (GAD) antibodies which is elevated in about 2 in 3 people with SPS), a lumbar puncture, and electromyography. For people with stiff person syndrome, the nervous system becomes hyperexcitable without the proper amount of GABA. N Engl J Med. People with SPS may be afraid to leave the house because street noises, such as the sound of a car horn, can trigger spasms and falls. This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Many patients with SPS also have another autoimmune disease, such as type 1 diabetes, vitiligo, and pernicious anemia. Study of Safety and of the Mechanism of BLZ945 in ALS Patients, SPARK: Simons Foundation Powering Autism Research for Knowledge, a national cohort of individuals and families affected by Autism Spectrum Disorder, Multiple Sclerosis: How Scientists Developed a Breakthrough Drug, Faster Access to Treatment for People with Multiple Sclerosis. Spasms can generate enough force to fracture bone. The muscles usually also become enlarged. https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/stiff-person-syndrome/index.html . A combination of medication and nonmedication treatments seems to be the most effective in minimizing the severity and intensity of symptoms over time, but it takes a while to figure out the combination that works best. The stiffness can cause you to fall when standing or walking, and this falling down has been described as log-like since you become very rigid and cant stop yourself or break the fall. There currently isnt a cure for SPS, so treatment plans are tailored to manage your personal symptoms. Because stiff person syndrome compromises my immunity, I can't see many people these days. Though the cause of Stiff Person Syndrome remains unknown, researchers suspect it may be caused by an autoimmune reaction. IVIG is commonly used as a therapy for immune-mediated disorders as SPS is believed to be. A healthcare professional may prescribe calming, anticonvulsant, and muscle-relaxing medications, such as: Doctors may also prescribe antidepressant and anti-epileptic medications to treat psychiatric symptoms and seizures that may co-exist with SPS. Less commonly, affected individuals may also develop inflammation of the thyroid (thyroiditis), pernicious anemia and vitiligo. Then in early May, I woke one morning and realized I could no longer ignore what was happening. I once thrived on pressure but now I spend my days managing my health. Stiff person syndrome is a rare disease affecting only one or two people per million. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease. Stiff-person syndrome has been described in the medical literature under many different, confusing names. J Clin Neurosci. Connect with others talking aboutstiff-person syndromeonMayo Clinic Connect. An autoimmune and neurological disorder that causes rigidity and spasms in the trunk and limbs, Symptoms include stiffening in the torso and limbs, along with episodes of severe muscle spasms, Medications and immunotherapy maybe prescribed, with aqua, occupational, and physical therapy, Involves neurology, movement disorders, neuromuscular medicine. Consult doctors, other trusted medical professionals, and patient organizations. Floeter MK. What can I expect to happen to my health in the future? Parkinsons disease is a chronic, progressive disease that affects the central nervous system, which controls muscle movement and monitors organ function. SPS is labeled as a rare disease. Although further research is necessary to determine their efficacy, some people with SPS have reported improvement after using the following medications: In addition to medication, a person may benefit from physical therapy. However, some people experience other symptoms such as an unsteady gait, double vision or slurred speech. Doctors havent yet pinpointed an exact cause of stiff person syndrome. Sometimes, these muscle spasms can be so strong that they can fracture your bones. Rodgers-Neame NT. Benzodiazepines, like diazepam and clonazepam, or baclofen are common medications that are used to treat muscle stiffness and spasms, and anti-inflammatories or anti-seizure medications can help manage pain. Generally, SPS is suspected based on characteristic symptoms. Current treatment for stiff person syndrome focuses on relieving symptoms to facilitate the normal performance of daily activities. Most people with SPS have elevated (higher) levels of GAD antibodies. Many collaborate with medical experts and researchers.Services of patient organizations differ, but may include: Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. SPS is often misdiagnosed as Parkinson's disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. Over the past year, I have had to learn who I am now and accept there will never be a cure for stiff person syndrome during my life. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. It gives me meaning to sharing my story so that others understand this rare condition exists and that it is important to seek help for any health condition as soon as symptoms start, even if they seem mild. They can occur randomly or be triggered by emotional distress, environmental stimuli such as loud noises, or even light physical touch. Talk to a trusted doctor before choosing to participate in any clinical study. SPS symptoms are thought to be related to which type of SPS a person has. GABA helps regulate motor neurons by decreasing their activity. Only a handful of cases of jerking stiff-person syndrome have been described in the medical literature. National Institute of Neurological Disorders and Stroke. At first, the muscle stiffness may come and go, but over time, it becomes constant. 2004;63:2146-2148. Such tests include screening tests to detect the presence of antibodies against GAD-65, antibodies against amphiphysin (which are associated with paraneoplastic SPS) and an electromyography (EMG), a test that records electrical activity in skeletal (voluntary) muscles at rest and during muscle contraction. This can occur spontaneously or due to an exaggerated startle response to noises, emotional distress, and other stimuli. Less commonly, individuals with SPS will have antibodies to amphiphysin, a protein involved in the transmission of signals from one nerve cell to another. The twitching or jerking of muscles cannot be controlled by the person experiencing it. More than 50% of patients have a coexisting non-neurological autoimmune disease, such as Type 1 diabetes or autoimmune thyroid disease.". In many cases, SPS begins slowly over several months or a few years. Stiff person syndrome is a chronic condition, and there is currently no cure. 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