Stiff person syndrome

Title

Other Names:

Stiff man syndrome; Morsch Woltman syndrome; SPS; Stiff man syndrome; Morsch Woltman syndrome; SPS; Stiff person syndrome and related disorders See More

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary

Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. 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. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).^[1]

Last updated: 10/8/2014

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Adult onset	-
Agoraphobia	-
Anemia	-
Anxiety	-
Asymmetric limb muscle stiffness	-
Autoimmunity	-
Axial muscle stiffness	-
Depression	-
Exaggerated startle response	-
Fever	-
Frequent falls	-
Hyperhidrosis	-
Hyperreflexia	-
Hypertension	-
Lumbar hyperlordosis	-
Myoclonic spasms	-
Opisthotonus	-
Proximal limb muscle stiffness	-
Rigidity	-
Sporadic	-
Tachycardia	-
Vitiligo	-

Last updated: 9/1/2016

Cause Cause

Scientists don’t yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord.^[1] Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood.^[2]

Less often, individuals with stiff person syndrome will have antibodies to amphiphysin, a protein involved in the transmission of signals from one nerve cell to another. Individuals with these antibodies have a higher risk for developing breast cancer.^[2]^[3]

Last updated: 9/2/2016

Inheritance Inheritance

Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported.^[4] The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role.

Last updated: 9/2/2016

Diagnosis Diagnosis

Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established.^[5]^[3]

Last updated: 10/9/2014

A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests.^[2] Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles.^[2]^[6] About 60% to 80% of affected people have autoantibodies against GAD.^[6] Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis.^[3] An EMG typically shows continuous motor activity, which is characteristic of SPS.^[2]^[6] Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS.^[3]

Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive.^[7]

Last updated: 10/8/2014

Treatment Treatment

Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective for some people. More recently, studies have shown that intravenous immunoglobulin (IVIG) is effective in improving many of the symptoms of SPS.^[2] Research involving additional treatment options for SPS is ongoing.

Additional information about the treatment of stiff person syndrome can be viewed on Medscape Reference's Web site.

Last updated: 10/8/2014

Management Guidelines

Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Stiff person syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue Eastpointe
East Detroit, MI 48201-2227
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: http://www.aarda.org/
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4
Gzira Road
Gzira, Intl GAR 04
Malta
Telephone: 003-56 -21 346688
E-mail: eamda@hotmail.com
Website: http://www.eamda.net
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: 414-276-2145
Fax: 414-276-3349
E-mail: info@movementdisorders.org
Website: http://www.movementdisorders.org/
Neuromuscular Disease Foundation
269 South Beverly Drive, Suite 1206
Beverly Hills, CA 90212
Telephone: 310-736-2978
Website: http://curehibm.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Stiff person syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NORD Announces Research Grants Available for Study of Rare Diseases
August 24, 2016
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

Related Diseases Related Diseases

The following diseases are related to Stiff person syndrome. If you have a question about any of these diseases, you can contact GARD.

Progressive encephalomyelitis with rigidity and myoclonus

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have been diagnosed with stiff person syndrome. In many ways it feels like an accurate assessment of my condition, better than numerous alternatives which were considered, but not across the board, in terms of what I have been reading. Are there any criteria which are necessary and sufficient, even overall convincing, to confirm the diagnosis? See answer
My husband and son have been diagnosed with stiff person syndrome. I am concerned about my other son and my grandson. Is there genetic testing for stiff person syndrome? See answer
A loved one has been diagnosed with stiff person syndrome. How can I learn more about treatments and clinical trials? See answer

Have a question? Contact a GARD Information Specialist.

References References

NINDS Stiff-Person Syndrome Information Page. National Institute of Neurological Disorders and Stroke. November 15, 2010; http://www.ninds.nih.gov/disorders/stiffperson/stiffperson.htm.
Murinson BB. Stiff Person Syndrome. National Organization for Rare Disorders (NORD). 2010; http://rarediseases.org/rare-diseases/stiff-person-syndrome/.
Stiff Person Syndrome. Johns Hopkins Medicine: Neurology & Neurosurgery. http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neuroimmunology_and_neurological_infections/conditions/stiff_person_syndrome.html.
Stiff-Person Syndrome. Online Mendelian Inheritance in Man (OMIM). 2016; http://www.ncbi.nlm.nih.gov/omim/184850.
Stiff-Person Syndrome. American Autoimmune Related Diseases Association, Inc.. http://www.aarda.org/patient_information.php. Accessed 3/15/2011.
Sheilagh Sanders, et. al. Autologous stem cell transplantation for stiff person syndrome: two cases from the Ottawa blood and marrow transplant program. JAMA Neurology. October, 2014; 71(10):1296-9. http://www.ncbi.nlm.nih.gov/pubmed/25155372.
Nancy Theresa Rodgers-Neame. Stiff Person Syndrome. Medscape Reference. September 15, 2014; http://emedicine.medscape.com/article/1172135-overview.