Stiff person syndrome

Información en español Title

Other Names:

Stiff man syndrome; Morsch Woltman syndrome; SPS; Stiff man syndrome; Morsch Woltman syndrome; SPS; Moersch-Woltman syndrome; SMS; 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 an autoimmune disease that affects the nervous system, specifically the brain and spinal cord. 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. People with SPS may also have abnormal postures, such as being hunched over. The syndrome affects twice as many women as men.^[1]
It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia.^[1] SPS may be diagnosed by a blood test for glutamic acid decarboxylase (GAD) antibodies because people with SPS usually have elevated levels of GAD antibodies. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).^[1]

Last updated: 7/23/2017

Symptoms Symptoms

Stiff person syndrome (SPS) is characterized by episodes of muscle stiffness in the trunk and limbs. This muscle rigidity may cause abnormal postures such as being stiffened and hunched over.^[1] During episodes of muscle stiffness, affected individuals may also have muscle spasms. The spasms and muscle rigidity may cause people to fall when they are walking or standing. These spasms are especially likely during times of emotional distress or startle.^[2]

Age of onset of SPS can vary, but most people start experiencing symptoms between ages 30 and 60. Some people with this syndrome may have other clinical findings such as cerebral palsy or epilepsy.^[2]

Many people with stiff person syndrome suffer from anxiety and depression. This is caused in part by the symptoms of the syndrome affecting a person’s daily life, but also because the cause of the syndrome is having low levels of neurotransmitters. Neurotransmitters help to maintain a person’s mood.^[2]

Last updated: 7/23/2017

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)
Anxiety	Very frequent (present in 80%-99% of cases)
EMG abnormality	Very frequent (present in 80%-99% of cases)
Falls	Very frequent (present in 80%-99% of cases)
Hyperhidrosis	Very frequent (present in 80%-99% of cases)
Intermittent painful muscle spasms	Very frequent (present in 80%-99% of cases)
Agoraphobia	Frequent (present in 30%-79% of cases)
Autoimmune antibody positivity	Frequent (present in 30%-79% of cases)
Difficulty walking	Frequent (present in 30%-79% of cases)
Emotional lability	Frequent (present in 30%-79% of cases)
Exaggerated startle response	Frequent (present in 30%-79% of cases)
Paraspinal muscle hypertrophy	Frequent (present in 30%-79% of cases)
Rigidity	Frequent (present in 30%-79% of cases)
Diabetes mellitus	Occasional (present in 5%-29% of cases)
Hypothyroidism	Occasional (present in 5%-29% of cases)
Lumbar hyperlordosis	Occasional (present in 5%-29% of cases)
Adult onset	-
Anemia	-
Asymmetric limb muscle stiffness	-
Autoimmunity	-
Axial muscle stiffness	-
Depression	-
Fever	-
Frequent falls	-
Hyperreflexia	-
Hypertension	-
Myoclonic spasms	-
Opisthotonus	-
Proximal limb muscle stiffness	-
Sporadic	-
Tachycardia	-
Vitiligo	-

Last updated: 8/1/2017

Cause Cause

Scientists don’t yet understand the complete picture of 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] Autoimmune responses occur when the immune system mistakenly attacks the body.

Most people with stiff person syndrome have antibodies that are made to attack glutamic acid decarboxylase (GAD). GAD is a protein in some neurons that are involved in making a substance called gamma-aminobutyric acid (GABA), which is responsible for controlling muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD. When GAD is not working properly, there is not enough GABA to help control muscle movement. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood.^[2]

Some individuals with stiff person syndrome will have antibodies to amphiphysin, a protein involved in the transmission of signals from one neuron to another. Individuals with these antibodies have a higher risk for developing breast, lung, or colon cancer.^[2]^[3]^[4]^[5]

Last updated: 7/23/2017

Inheritance Inheritance

As is the case with most autoimmune diseases, genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, there have been reported cases of multiple people in the same family being affected by SPS.^[6] Although one specific genetic change (mutation) is not known to cause stiff person syndrome, it is thought that genetics in combination with other factors may play a role in causing SPS.^[2]

Last updated: 7/23/2017

Diagnosis Diagnosis

A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history and clinical exam, and various tests.^[3] Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. One commonly used diagnostic tool is a blood test to detect the presence of glutamic acid decarboxylase (GAD) antibodies. About 60-80% of affected people have antibodies against GAD that can be detected on a blood test.^[7] Therefore, the absence of GAD antibodies does not rule out SPS, but the presence of high levels of GAD antibodies in people with symptoms of SPS strongly supports the diagnosis.^[4]

Additionally, a doctor may recommend electromyography (EMG), which records electrical activity in skeletal muscles.^[3]^[7] The EMG of a person with SPS typically shows continuous motor activity in the skeletal muscles.^[3]^[7]

Other laboratory testing may also be used to determine if a person with SPS has other diseases that may be associated with the syndrome. This testing includes hemoglobin A1C levels to rule out diabetes mellitus, a complete blood count to rule out pernicious anemia, and thyroid-stimulating hormone (TSH) test to rule out thyroiditis. A lumbar puncture to analyze cerebral spinal fluid may also be obtained to rule out other causes of the symptoms associated with SPS. Proteins called oligoclonal bands indicate that the central nervous system is inflamed, and these bands can be seen in about two thirds of affected people who have GAD antibodies.^[2] Because the underlying genetic cause of stiff person syndrome has not been established, genetic testing is not available.^[4]

Last updated: 7/23/2017

Treatment Treatment

Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines, diazepam, or baclofen may be used to treat muscle stiffness and spasms. Anti-seizure medications and pain medications may also be effective for some people.^[2]

Recently, studies have shown that intravenous immunoglobulin (IVIG) or plasmapheresis may be effective in improving some of the symptoms of SPS.^[2] For some people, autologous stem cell transplants have been shown to successfully treat SPS.^[7] Clinical trials are being completed to confirm if this may be an effective treatment. Physical and occupational therapy may help to slow the progression of stiff person syndrome, but should be completed by someone who is familiar with the condition so as not to make symptoms worse.^[2]^[4]

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

Last updated: 7/23/2017

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.

Prognosis Prognosis

The long-term outlook for people affected by stiff person syndrome (SPS) can vary widely depending on the symptoms of each person. For some people with this syndrome, symptoms resolve with treatment, or symptoms only affect a particular area of the body. For other people, symptoms may progress to include the muscles of the face, and some of the muscles in the body may be constantly rigid. Progression of the symptoms related to SPS can lead to frequent falls, which can become dangerous.^[2]^[3]

Treatment may be helpful for some people with SPS, but for others current treatment options do not relieve the symptoms of the disorder.^[1]^[2] For these people, daily living can become very difficult due to symptoms of muscle rigidity, anxiety, and depression.^[2]

Last updated: 7/23/2017

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.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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

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.eu/
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/
Stiff Person Syndrome Support Group
75 Normandy Avenue
Beverley
East Yorkshire
HU17 8PF
United Kingdom
Telephone: 01482 868881
E-mail: liz.blows@smssupportgroup.co.uk
Website: http://www.smssupportgroup.co.uk/

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.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

IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
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

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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

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