Molecular nosology of heritable disorders of connective tissue

Beighton, Peter; Paepe, A De; Hall, Judith G.; Hollister, David W.; Pope, F M; Pyeritz, Reed E.; Steinmann, Beat; Tsipouras, Petros

doi:10.1002/ajmg.1320420406

Cited by 57 publications

(31 citation statements)

References 110 publications

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“…In fact, most EDS subtypes are caused by mutations in genes encoding fibrillar collagens type I, III, or V, as well as genes encoding enzymes involved in the posttranslational modification of these collagens (1,2). 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).…”

Section: Discussionmentioning

confidence: 99%

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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%

“…The Ehlers-Danlos syndrome (EDS) comprises a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by defects in the biosynthesis or secretion of fibrillar collagens (1)(2)(3). The 3 prominent features of this disorder are skin laxity, joint hypermobility, and tissue fragility (4).…”

Section: Introductionmentioning

confidence: 99%

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

Rombaut

Malfait

Wandele

et al. 2012

Arthritis Care & Research

View full text Add to dashboard Cite

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“…Ehlers-Danlos syndrome (EDS) comprises a clinically and genetically heterogeneous group of inherited connective tissue disorders, of which the principal clinical features are skin laxity, tissue fragility, and joint hypermobility (1)(2)(3). The current classification, formalized in the Villefranche nosology, proposes 6 subtypes based on clinical, biochemical, and molecular characteristics (4).…”

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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“…Despite the fact that the diagnosis of MFS is based on a clinical score [9], the disease is not obvious at physical examination in a large subset of patients. In these patients, the diagnosis is possible only if criteria are carefully investigated [14]. Cases of ''non-idiopathic'' scoliosis are deemed ''atypical''.…”

Section: Discussionmentioning

confidence: 99%