Faculty of Medicine of Creteil, University of Paris-Est-Creteil,France
Ehlers-Danlos is an hereditary disease, multisystemical and frequent of the collagen tissue, which excludes the nervous system. However, a deceitful symptomatology of this disease, poorly known and described will often lead the practitioner toward a neurological or psychiatric pathology with iatrogenic risks.
Our experience is based on a cohort of 5.600 patients, women (80%), men and children with an important alteration of their collagen tissue, including meningeal (with a fragilisation of the brain) and a proprioceptive disorder with hyper sensoriality at the origin of their symptoms. 5 of the 9 following clinical signs allow for a precise diagnosis at 99.6% without reliable genetic testing : rebellious and widespread chronical pain, chronical fatigue, difficult motor control with frequent clumsiness, joint instability, skin fragile and thin, hypermobility joints, ecchymosis, gastroesophageal reflux, hyperacusis. We have spotted erroneous neurological diagnoses with our patients