Familial episodic pain syndrome with predominantly upper body involvement

Get in touch with RARE Concierge.

Contact RARE Concierge

A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders thorax and arms (occasionally radiating to the abdomen and legs) triggered by fasting fatigue cold temperatures or physical exercise which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea tachycardia sweating generalized pallor peribuccal cyanosis and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.

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 June 2024

Newly diagnosed with
Familial episodic pain syndrome with predominantly upper body involvement?

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

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.