Dystonia in the joint hypermobility syndrome (a.k.a. Ehlers- Danlos syndrome, hypermobility type)

Abstract

Ehlers-Danlos syndrome first described by Tschernogobow (1896) in Moscow and Ehlers (1900) in Copenhagen is a mostly autosomal inherited genetic disease of collagen synthesis that sensitizes the ensemble of the connective tissue which becomes less resistant and less elastic. These two characteristics explain the symptomatology: fragility of the skin, of the vessels (haemorrhages) and the presence of a diffuse proprioceptive syndrome due to dysfunction of the receptors which are implanted into little or non-reactive connective tissue. Diagnosis of the hypermobile type of EDS is solely clinical as there is to date no genetic maker for the most frequent form of EDS. The rarity of the disease needs to be put into question before the crowd of patients at consultations. Our experience is based on an active database of 2212 patients which all fall under the Villefranche criteria. A great number of signs and symptoms have yet to be attributed to this syndrome. They are, combined with the unawareness of physicians about the syndrome, at the origin of therapeutic errors accompanied by the iatrogenic effects of prejudice towards these patients. This is the case of dystonia which is present in 75% of our cases. Dystonia plays an important part in the functional discomfort which is at the origin of a number of handicap situations. It seems to be related to dysautonomia common amongst the patients, proprioceptive problems and the multiple pains caused by the syndrome. Dystonia treatment with Amantadine and L-Dopa permits to obtain results which go further than the normally associated extra-pyramidal treatment and opens new perspectives on the management of a syndrome that has been particularly difficult to treat. was studied in parallel by the rheumatologists (Brighton and Grahame) and the geneticist (Beighton) who is working mainly on articular hypermobility with different assessment tests. There is perfect similarity between the rheumatologists' joint hypermobility syndrome and the geneticists' EDS hypermobility type. These two denominations refer in fact to the same illness. However, a great body of clinical manifestations has not yet been assigned to this syndrome. They are, in combination with the physicians' usual unawareness of this syndrome, the cause of many diagnostic wavering with their iatrogenic side-effects that harm the patients. This is the case with dystonia. Material and Methods 2,212 patients were diagnosed and followed up in the Ehlers-Danlos consultation in Paris, between 2006 and 2015. They were all examined by the same physician with the same evaluation grid both qualitative and quantitative allowing to rate from 0 to 4 the symptoms' subjective severity and objective data from clinical examination. The population's age varies from 2years to 69 years (mean age: 32). 80% are women. Inclusion criteria All the patients in this study met the criteria of the geneticians' Villefranche classification [6]. On top of the criteria within this classification, we observed a group of 153 patients examined in 2013 with a quotation of severity equal or superior to 2/4 (medium intensity) with clinical manifestations of the following: multiple pains (95%), fatigue (93%), proprioceptive problems (92%), hemorrhages (93%), GERD (72%), bucco-dental manifestations (72%), hyperacousia (75%), diplopia (74%), SOB (76%), dysautonomia: heavy sweating (70%), cold intolerance (74%), a pseudo Raynaud with cold extremities (84%), cognitive problems : attention (79%) and memory (72%). As of date there is no genetic test available for the hypermobile form of EDS. Finding other cases amongst the patient's family (95%) is a strong diagnostic argument.