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Genetic and Rare Diseases Information Center (GARD)

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Stiff person syndrome

Other Names for this Disease
  • Morsch Woltman syndrome
  • SPS
  • Stiff man syndrome
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Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes stiff person syndrome?

Scientists don’t yet understand what causes stiff person syndrome, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord.[1] Most individuals with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in inhibitory nerve cells involved in the creation of 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]
Last updated: 3/15/2011

Is stiff person syndrome inherited?

Genetic factors for stiff person syndrome have not been established.[3]  While most cases appear to occur in an isolated manner, some familial occurrences have been reported.[4] The fact that stiff person syndrome can occur with other autoimmune disorders also suggest that genetics may play a role.[3] 
Last updated: 3/15/2011

Is genetic testing available for stiff person syndrome?

Genetic testing is not used for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established.[3][5]
Last updated: 3/15/2011