Focal stiff limb syndrome

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Focal stiff limb syndrome

Synonyms: Focal stiff-person syndrome | Stiff leg syndrome

A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch pain cold movement or negative emotions) increased stimulus sensitivity including hyperekplexia as well as stiffness in a lower or upper limb typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases the syndrome is of paraneoplastic origin.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

Meg’s Miracles

The mission of Meg's Miracles is to help raise funds and create awareness for Stiff Person Syndrome research at The Stiff Person Syndrome Center at Johns Hopkins' Department of Neurology so that one day each and every person affected by this debilitating disease will be able to get a better treatment and eventually be cured of this disease. In addition to raising awareness, we want to be a resource of support for patients and their families battling this condition empowering them with tools to create more effective patient advocacy. This is all accomplished by educating both patients and clinicians about the disease; reminding them that they are a team and work together to create the best possible patient outcomes.

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Clinical Trials

For a list of clinical trials in this disease area, please click here.