News

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…

A man with vascular Ehlers-Danlos syndrome (EDS) underwent a vein graft surgery to replace a damaged section of artery in his right arm with good results, as described in a recent report. “It has been four years after the operation … and the patient has good right-hand function,” the scientists…

Compared with the general population, people with Ehlers-Danlos syndrome (EDS) are at a greater risk of complications following anterior cervical discectomy and fusion, a common surgery to treat damage to the cervical spine of the neck, a study reports. “EDS presents a challenge to cervical spine fusion patients who…

A mutation in the MIA3 gene, found in a woman in Poland as part of a larger study, was deemed to be a likely cause of hypermobile Ehlers-Danlos syndrome (hEDS), the most common form of EDS. The variant was found in a 49-year-old hEDS patient and in her daughter…

Surgical treatments for brain blood vessel problems with vascular Ehlers-Danlos syndrome (EDS) are increasingly successful, but caution is needed because the procedures carry a high rate of complications that can be deadly, a new study shows. “Endovascular therapy [blood vessel-based surgery] in patients with vascular EDS can be performed efficaciously, with…

The number of adolescents with Ehlers-Danlos syndrome (EDS) who identify as transgender or gender diverse (TGD) was much higher than would be expected given national averages, a new analysis of data from a U.S. specialty clinic shows. “The cause of the association between TGD and EDS is unclear, but…

Many people with hypermobile Ehlers-Danlos syndrome (hEDS) have tried complementary and alternative medical (CAM) techniques like massage therapy or meditation and some report these help manage pain and other symptoms, according to a new study. “Our study shows that clinicians should be aware that many patients with chronic pain…

A young girl was diagnosed with the classical type of Ehlers–Danlos syndrome (EDS) despite showing signs of kyphoscoliotic EDS (kEDS), a case study reported. Her diagnosis was confirmed only after the discovery of a previously unreported variant in the COL5A2 gene, known to be associated with classical EDS…

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…

Researchers detailed the upper limb motion, occurrence of dislocations, and bone health of children and adults with musculocontractural Ehlers-Danlos syndrome (mcEDS). Shoulder dislocations were the most frequent dislocations, while two or more upper limb dislocations occurred in the majority of study participants. Children, more than adults, had hyperextended elbow…