Stiff person syndrome
Other Names for this Disease
- Coxopodopatellar syndrome
- Ischiopatellar dysplasia
- Moersch-Woltman syndrome
- Morsch Woltman syndrome
- Scott-Taor syndrome
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Your QuestionMy 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?
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Questions on this page
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. 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.
Last updated: 3/15/2011
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. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role.
Last updated: 3/15/2011
Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established.
Last updated: 10/9/2014
- 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. Accessed 3/15/2011.
- Murinson BB. Stiff Person Syndrome. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stiff%20Person%20Syndrome. Accessed 3/15/2011.
- Stiff-Person Syndrome. American Autoimmune Related Diseases Association, Inc.. http://www.aarda.org/patient_information.php. Accessed 3/15/2011.
- Stiff-Person Syndrome. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/omim/184850. Accessed 3/15/2011.
- Stiff Person Syndrome. Johns Hopkins Medicine: Neurology & Neurosurgery. http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/old/stiff_person_syndrome.html. Accessed 3/15/2011.