Ehlers-Danlos syndromes and Marfan syndrome

Callewaert, Bert; Malfait, Fransiska; Loeys, Bart; Paepe, Anne De

doi:10.1016/j.berh.2007.12.005

Cited by 216 publications

(146 citation statements)

References 73 publications

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“…In addition, mutations in the 3 genes coding for the alpha chains of collagen VI result in Ullrich and Bethlem congenital muscular dystrophy, which shows clinical and ultrastructural overlap with EDS (34). In this way, even though the genetic background of EDS-HT is presently unknown (35), it seems reasonable that fibrillar collagens in the muscle of EDS-HT patients may also lose their tensile properties, resulting in reduced passive muscle tension. In fact, Voermans et al recently showed a reduction of the density of collagen fibrils and mild structural abnormalities, including increased variation in fiber diameter and sporadic isolated atrophic fibers, on muscle biopsies of the quadriceps muscle in some EDS-HT patients (36).…”

Section: Discussionmentioning

confidence: 99%

Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome

Rombaut

Malfait

Wandele

et al. 2012

Arthritis Care & Research

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Objective. To investigate the passive properties of the plantar flexors muscle-tendon tissue in patients with the hypermobility type of Ehlers-Danlos syndrome (EDS-HT).Methods. Twenty-five women with EDS-HT and 25 sex-and age-matched healthy control subjects participated in the study. Passive resistive torque (PRT) of the plantar flexors was measured with an isokinetic dynamometer during 2 standardized stretch protocols to obtain the passive muscle tension. Protocol 1 consisted of 4 continuous cycles to a predetermined angle of 10°dorsiflexion. Protocol 2 consisted of a slow stretch to the onset of pain. Torque, angle, and electromyography were simultaneously recorded during the tests. To take muscle thickness into account, muscle cross-sectional area (MCSA) was obtained with peripheral quantitative computed tomography. Stiffness of the Achilles tendon was assessed using a dynamometer in combination with ultrasonography.Results. The results demonstrate a significantly larger maximal joint angle in the EDS-HT patients accompanied by a similar PRT compared to the control subjects (protocol 2), indicating a lower passive muscle tension in the patient group. PRT for the predetermined angle (protocol 1) was the same for both groups and there was no difference in MSCA. Furthermore, a significantly lower Achilles tendon stiffness was seen in the patient group than in the control group. Conclusion. This study is the first to provide evidence for altered passive properties of the muscle-tendon unit in EDS-HT patients. These changes are thought to be associated with structural modifications in connective tissue.

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Section: Discussionmentioning

confidence: 99%

Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome

Rombaut

Malfait

Wandele

et al. 2012

Arthritis Care & Research

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“…The current classification, formalized in the Villefranche nosology, proposes 6 subtypes based on clinical, biochemical, and molecular characteristics (4). However, overlapping forms, unclassified variants, and several new subtypes, including the tenascin-X (TN-X)-deficient type of EDS, have been identified over the last decade (5). Most EDS subtypes are caused by mutations in genes encoding fibrillar collagens type I, III, or V or collagen-modifying enzymes.…”

Section: Introductionmentioning

confidence: 99%

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers‐Danlos syndrome

Rombaut

Malfait

Wandele

et al. 2012

Arthritis Care & Research

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Objective. To investigate lower extremity muscle mass, muscle strength, functional performance, and physical impairment in women with the Ehlers-Danlos syndrome hypermobility type (EDS-HT). Methods. Forty-three women with EDS-HT and 43 sex-and age-matched healthy control subjects participated. Muscle mass was determined by dual x-ray absorptiometry. Muscle strength and muscle strength endurance were measured with isokinetic dynamometry at angular velocities of 60, 180, and 240°/second. Static muscle endurance during posture maintenance was also assessed. Pain and fatigue were simultaneously evaluated by visual analog scale and the Borg scale, respectively. In addition, the chair rise test for assessment of functional performance and the Arthritis Impact Measurement Scales (AIMS) for physical impairment evaluation were used. Results. Compared to control subjects, EDS-HT patients showed substantial lower extremity muscle weakness, reflected by significantly reduced knee extensor and flexor muscle strength and endurance parameters, with differences ranging from ؊30% to ؊49%; reduced static muscle endurance time; and diminished functional performance. Lower extremity muscle mass was similar in both groups and unlikely to affect the muscle strength results. By contrast, pain and fatigue were omnipresent and increased remarkably due to the tests. Furthermore, the EDS-HT group was physically impaired, especially in the AIMS domain walking and bending. Conclusion. This study demonstrates severely reduced quantitative muscle function and impairment in physical function in patients with EDS-HT compared to age-and sex-matched controls. The muscle weakness may be due to muscle dysfunction rather than reduced muscle mass. Whether muscle strength and endurance can be improved by appropriate exercise programs needs evaluation in further studies.

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“…Le SED forme donc une famille hétérogène regroupant plusieurs maladies génétiques du tissu conjonctif, ayant en commun la triade clinique suivante [2][3][4] Le SED est surtout lié à l'apparition d'un codon de terminaison précoce dans le gêne codant pour le collagène de type V, mais il peut aussi être secondaire à des anomalies des enzymes impliquées dans la biosynthèse du collagène [5,6]. D'autres molécules de la matrice extra-cellulaire, telle que la ténascine X, pourraient être responsables de l'apparition de cette affection [7].…”

Section: Discussionunclassified

Syndrome d’Ehlers-Danlos : à propos d’un cas

Delarue¹,

Souche²,

Cousty³

et al. 2010

Med Buccale Chir Buccale

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Mots clés :Ehlers-Danlos / collagène / hyperlaxité articulaire / hyperélasticité cutanée / cicatrices Résumé -Une patiente âgée de 7 ans consulte pour un bilan bucco-dentaire au cours duquel de nombreuses anomalies sont relevées : hypotaurodontisme, calcifications intrapulpaires, cicatrices cutanées anormales. . . L'anamnèse évoque une cicatrisation de mauvaise qualité après blessures et des luxations articulaires récidivantes (épaule droite, notamment). Devant ce tableau clinique, des investigations complémentaires sont menées au CHU de Toulouse, dans le service de pédiatrie, qui amènent à poser le diagnostic de syndrome d'Ehlers-Danlos (SED). Cette pathologie du collagène s'accompagne de signes gé-néraux typiques, parfois discrets, mais aussi de symptômes bucco-dentaires qui peuvent constituer des signes d'appel. L'objectif de cet article est de présenter les principaux symptômes mais également de définir quelques principes pour la prise en charge de ces patients par l'odontologiste. Key words:Ehlers-Danlos / collagen / joint hypermobility / skin extensibility / scars Abstract -Ehlers-Danlos syndrome: a case report. A 7 year-old patient sees her dentist for a dental balance sheet. Numerous anomalies are raised: hypotaurodontism, intrapulpar calcifications and abnormal cutaneous scars. The anamnesis recalls an inferior healing during wounds, even minor, and articular dislocation. In front of this clinical picture, additional investigations are led in the service of paediatrics of the hospital university centre of Toulouse which bring to put a diagnosis of Ehlers-Danlos syndrome. This syndrome obliges the oral surgeon to revalue its practices in a context of altered healing. This pathology of the collagen comes along with typical general signs, sometimes discreet, but also with oral symptoms which can be signs of call of this entity.Le syndrome d'Ehlers-Danlos (SED) est une pathologie autosomique dominante affectant environ 1 sujet sur 20 000, méconnue par la plupart des acteurs de santé. Le SED s'accompagne d'une cicatrisation anormale, pouvant compliquer les suites opératoires des interventions chirurgicales (désunion des sutures, cicatrisations vicieuses. . .).Cet article a pour objectif de présenter les principaux signes généraux et bucco-dentaires de cette maladie, mais également de définir quelques principes pour la prise en charge de ces patients.

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Ehlers-Danlos syndromes and Marfan syndrome

Cited by 216 publications

References 73 publications

Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome

Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers‐Danlos syndrome

Syndrome d’Ehlers-Danlos : à propos d’un cas

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