Rare diseases (RD) are more common than you might think. For every 20 people you know, one is likely affected by a rare ...

High-throughput genetic testing identifies 25% more rare disease risks, empowering families with early detection & prevention. Learn more this World Rare Disease Day!

“Conditions like POTS (postural orthostatic tachycardia syndrome), mitochondrial myopathy and Ehlers-Danlos syndrome all ... a cardiopulmonary fitness test,” Dr Ness says.

Certain inherited conditions, such as Marfan and Ehlers-Danlos syndromes ... smoked should undergo a one-time ultrasound screening test for this condition. (Howard LeWine, M.D., is an internist ...

Moreover, fibromyalgia and dysautonomia (e.g. Postural Tachycardia Syndrome; PoTS) are both associated with connective tissue disorders, specifically joint hypermobility syndromes (Ehlers Danlos ...

Filmmaker Andrew Abrahams addresses these issues in his new documentary “Complicated,” which is a World Premiere at the Slamdance Film Festival. The film follows a group of families and their children ...

But five years ago, they discovered something that brought them even closer: a shared diagnosis of the connective tissue disorder Ehlers-Danlos Syndrome (EDS). EDS explained symptoms they’d both ...

In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression. [25] Vascular-type EDS may also be ...