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 ...

We excluded individuals with one or more of the following factors: (1) genetic syndrome related to aortic disease, such as Marfan, Loeys–Dietz, Turner, or Ehlers–Danlos syndrome ... should be used as ...

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 ...