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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…

Lesions in the abdominal aorta — the lower part of the large blood vessel that carries blood from the heart out to the rest of the body — are common among people with vascular Ehlers-Danlos syndrome (vEDS), a new study highlights. “The main finding of the present study is…

A two-week virtual mindfulness program led to quality of life improvements for people with hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD), according to a recent pilot study. Patients reported benefits of the exercise included increased bodily awareness and reduced pain intensity, but participants noted a need for…

Poorer bone density and mineral content can be common in people with hypermobile Ehlers-Danlos syndrome (hEDS), likely as a result of reduced physical activity, a study indicates. “Based on the results of this study, we suggest that health care workers recommend, like in healthy individuals, regular physical activity and…

As people with vascular Ehlers-Danlos syndrome (vEDS) age, their risk of damage to the aorta, a large artery carrying blood from the heart to the body, rises, a study suggests. The study, “Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort,” was published…

Researchers have identified a rare type of disease-causing mutation, called a multi-exon deletion in the COL5A1 gene, in a girl with classical Ehlers-Danlos syndrome (cEDS). The girl inherited the disease from her father, who showed no symptoms but carried the mutation in some of his cells but not…

Using genetic testing, researchers in Japan identified 16 new COL3A1 gene mutations associated with vascular Ehlers-Danlos syndrome (vEDS), according to a recent case series. A range of different types of mutations was identified — each associated with a different level of disease severity and symptoms, or clinical presentation. “This is…

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…