Margarida Maia, PhD, science writer —

May is awareness month for Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD), and this year there are many ways people around the globe will be showing their support. To help people stay engaged, The Ehlers-Danlos Society has assembled a list of “acts of awareness” — from lighting…

A young man with an unusual combination of Birt-Hogg-Dubé syndrome, a rare disease of the skin and organs, and Ehlers-Danlos syndrome (EDS) was found to carry a new mutation in COL5A1, a gene linked to the classical type of EDS, according to a report. “This mutation could have…

A young girl with short stature due to spondylodysplastic Ehlers-Danlos syndrome (spEDS) was found to carry two copies of a new gene mutation that likely is disease-causing, a report from India says. The previously unreported mutation maps to the SLC39A13 gene, which has been linked to this type of…

Some people with Ehlers-Danlos syndrome (EDS) may experience dysphonia, or a hoarse voice, as a consequence of their disease, but symptoms seem to improve with voice therapy, according to a report of four cases in the U.S. “Voice therapy is a low-risk and potentially beneficial treatment in this patient…

A Tarlov cyst, a fluid-filled sac in the spine that may rarely occur as a complication of Ehlers-Danlos syndrome (EDS), caused long-lasting loss of bladder and bowel control (incontinence) in a boy with hypermobile EDS, a study showed. While several cases of Tarlov cysts in adults with EDS have…

A family in China was found to carry two mutations causing vascular Ehlers-Danlos syndrome (vEDS) over multiple generations, a study reports. The mutations interacted such that their effect was beyond that of each mutation alone. “This is the first report of such a combination ever described to cause vEDS…

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…

Aytu BioPharma has formed its new scientific advisory board, which will work toward advancing the global development of AR101 (enzastaurin), an antitumor agent with the potential to treat vascular Ehlers–Danlos syndrome (vEDS). There currently are no approved treatments for vEDS, characterized by thin, translucent skin that is easily bruised, and…

Weekly rehabilitation sessions mixing mild exercise with cognitive training for pain management may help in relieving lower back pain in people with hypermobile Ehlers–Danlos syndrome (hEDS), a pilot study suggested. Its researchers call for new approaches in rehabilitation, like neurocognitive rehab sessions, that focus on a patient’s perception of…

Doctors should consider the possibility of vascular Ehlers–Danlos syndrome (EDS) when seeing a patient with recurrent pneumothorax — the presence of air in the space between the lungs and the chest wall — that’s resistant to conventional therapy, according to a case report. The report described a 19-year-old man…