Progressive encephalomyelitis with rigidity and myoclonus

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: PERM

A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity stimulus-sensitive spasms myoclonus hyperekplexia autonomic disturbance and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies as well as thymomas or lymphomas.

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://www.orphadata.org. Data version July 2024

Newly diagnosed with
Progressive encephalomyelitis with rigidity and myoclonus?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

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.

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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