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)|
|Asymmetric limb muscle stiffness||-|
|Axial muscle stiffness||-|
|Exaggerated startle response||-|
|Proximal limb muscle stiffness||-|
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.
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. Suggest an organization to add.
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.
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.
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