JMIR Publications

ABSTRACT

While joint hypermobility can result from various medical conditions, it is most commonly associated with a group of related genetic conditions that affect connective tissue known as Ehlers–Danlos syndromes (EDSs). As there is currently no specific genetic testing for the diagnosis of Ehlers–Danlos hypermobility syndrome (hEDS), diagnosis is strictly made based on clinical criteria, which include physical features such as pain and family history, in addition to a scoring system known as the Beighton Score—a 9-point scale used to measure joint hypermobility—with a score of >4 considered significant. While hEDS often causes chronic muscle and joint pain, the underlying mechanisms remains poorly understood. Dysautonomia, characterized by common symptoms such as anxiety, vertigo, and increased heart rate when standing (orthostatic intolerance), in addition to multiple gastrointestinal symptoms, is highly prevalent among hEDS patients. We hypothesize that hypermobility due to ligamentous instability of the upper cervical spine, C1 and C2, results in impingement of the carotid sheath, the carotid artery and, more significantly, the vagus nerve, thus explaining the myriad symptoms that accompany hEDS. We also propose the novel use of extracorporeal shock wave therapy (ESWT) to treat this instability.