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Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers-Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals., ((c) 2010 Wiley-Liss, Inc.)

Unlabelled: Filippi GM, Brunetti O, Botti FM, Panichi R, Roscini M, Camerota F, Cesari M, Pettorossi VE. Improvement of stance control and muscle performance induced by focal muscle vibration in young-elderly women: a randomized controlled trial., Objective: To determine the effect of a particular protocol of mechanical vibration, applied focally and repeatedly (repeated muscle vibration [rMV]) on the quadriceps muscles, on stance and lower-extremity muscle power of young-elderly women., Design: Double-blind randomized controlled trial; 3-month follow-up after intervention., Setting: Human Physiology Laboratories, University of Perugia, Italy., Participants: Sedentary women volunteers (N=60), randomized in 3 groups (mean age +/- SD, 65.3+/-4.2y; range, 60-72)., Intervention: rMV (100Hz, 300-500microm, in three 10-minute sessions a day for 3 consecutive days) was applied to voluntary contracted quadriceps (vibrated and contracted group) and relaxed quadriceps (vibrated and relaxed group). A third group received placebo stimulation (nonvibrated group)., Main Outcome Measures: Area of sway of the center of pressure, vertical jump height, and leg power., Results: Twenty-four hours after the end of the complete series of applications, the area of sway of the center of pressure decreased significantly by approximately 20%, vertical jump increased by approximately 55%, and leg power increased by approximately 35%. These effects were maintained for at least 90 days after treatment., Conclusions: rMV is a short-lasting and noninvasive protocol that can significantly and persistently improve muscle performance in sedentary young-elderly women.

Background: Camptocormia is an abnormal flexion of the thoracolumbar spine during standing and walking that abates in the recumbent position., Methods: In a single-centre epidemiological and clinical study, the prevalence of camptocormia in Parkinson disease (PD) and its relationship with the clinical features of PD were investigated. A total of 275 consecutive outpatients were systematically screened for camptocormia with a clinical evaluation. Patients who screened positive for camptocormia were subsequently reassessed by formal goniometric analysis. The demographic and clinical features of the patients with and without camptocormia were then compared., Results: A 6.9% (19/275, 95% CI, 4.2 to 10.6) prevalence of camptocormia was found. Camptocormia was found in patients with more severe PD, as clinically assessed by the Hoehn-Yahr (HY) staging and the motor Unified Parkinson Disease Rating Scale (UPDRS) part III, longer l-dopa treatment duration and greater l-dopa daily dose and presence of DSM-IV dementia. Camptocormia was reported to develop after the clinical onset of PD. No correlation was found between the degree of trunk flexion and age, duration of PD, UPDRS motor score, HY staging, and l-dopa treatment duration and dose. As a risk factor, the study identified previous vertebral surgery., Conclusions: Camptocormia, a relatively common sign in PD seems to be related to the clinical severity of PD.

Objective: The effects of a novel repeated muscle vibration intervention (rMV; 100 Hz, 90 min over 3 consecutive days) on corticomotor excitability were studied in healthy subjects., Methods: rMV was applied over the flexor carpi radialis (FCR) during voluntary contraction (experiment 1), during relaxation and during contraction without vibration (experiment 2). Focal transcranial magnetic stimulation (TMS) was applied before rMV and one hour, and one, two and three weeks after the last muscle vibration intervention. At each of these time points, we assessed the motor map area and volume in the FCR, extensor digitorum communis (EDC) and abductor digiti minimi (ADM). Short-interval intracortical inhibition (SICI) and facilitation (ICF) were tested for the flexor/extensor muscles alone., Results: Following rMV under voluntary contraction, we observed a significant reduction in the FCR map volumes and an enhancement in the EDC. SICI was increased in the FCR and reduced in the EDC. These changes persisted for up to two weeks and occurred at the cortical level in the hemisphere contralateral to the side of the intervention., Conclusion: We conclude that rMV, applied during a voluntary contraction, may induce prolonged changes in the excitatory/inhibitory state of the primary motor cortex. These findings may represent an important advance in motor disorder rehabilitation.

The purposes of this study were to assess: (i) the effects of 8-week training programs with constrained-path and unconstrained-path chest press machines on 1-RM; (ii) the different activity patterns of selected arm and shoulder girdle muscles during push movement performed on the different machines; (iii) the transfer of the training effects from one machine to the other. Twenty healthy, sedentary women (mean+/-SD age, 24.8+/-1.0yrs), randomized to either the FM or CM strength training protocols were evaluated before and after the strength training program. Muscular activity signals were recorded by surface electromyography (sEMG) from eight muscles while each subject performed the exercise on each machine. Muscle strength was defined by a 1 repetition maximum (1-RM) test for each subject on each machine. Both machines were effective in improving 1-RM, but the 1-RM increased more in the FM than the CM. Adaptive change in the sEMG was observed in all muscles after training on the FM machine, but not within the stabilizers when training on the CM machine. The results suggest that training in an unconstrained condition provides a more effective method for improving inter-muscular coordination via adaptation of the motor strategy aimed at optimising muscular efforts.

Background: The relationship between ankle plantar flexor biomechanical properties and gait pattern following surgery for acute rupture of the Achilles tendon has not yet been fully investigated., Methods: Forty-nine young adults (27 men and 22 women) who underwent surgical repair of a complete Achilles tendon rupture were evaluated at 3, 6, 12 and 24 months by clinical assessment, biomechanical evaluation and gait analysis., Findings: Ankle range of motion, plantar flexor passive stiffness and concentric strength were recovered within 12 months. Gait abnormalities related to these factors took longer to disappear owing to the presence of anomalous muscle patterns. At 24 months, a deficit in calf-muscle eccentric strength was still present, determining adaptive changes in gait strategy that involved ankle motion and coordinated muscular activity., Interpretation: Improvement of gait pattern is slower than recovery of plantar flexor mechanical properties. Persisting mechanical impairment resulting in gait adaptations may be detrimental to the healing structures by increasing stress on the Achilles tendon. Restoration of calf-muscle eccentric strength and coordinated antagonist muscle activity should be key points in postoperative rehabilitation following surgical repair of Achilles tendon rupture.

We describe a patient who presented myoclonus in the left scapula 3 months after a traumatic lesion of the left long thoracic nerve. Myoclonic activity was recorded as pseudorhythmic electromyographic bursts repeated at a frequency of 2 to 4 Hz, each lasting between 100 and 200 msec, in the left serratus-dorsalis muscle region, trapezius, and deltoid muscles. A combination of peripheral and central mechanisms may have induced the myoclonus in this case., (Copyright (c) 2005 Movement Disorder Society.)

Background: Functional ankle instability is a clinical syndrome that may develop after acute lateral ankle sprain. Although several causes of this functional instability have been suggested, it is still unclear what the activation pattern of the peroneus longus muscle is in patients with functional ankle instability., Hypothesis: Peroneus longus activation patterns differ in the injured side and the uninjured side in subjects with functional ankle instability., Study Design: Descriptive laboratory study., Methods: The authors examined 14 subjects with functional ankle instability by using surface electromyography during walking. Activation time of the peroneus longus muscle was expressed as a percentage of the stance phase of the gait cycle., Results: A statistically significant decrease in peroneus longus muscle activity was found in the injured side compared with the uninjured side (22.8% +/- 4.25% vs 37.6% +/- 3.5%, respectively)., Conclusions: Results obtained in this study show a change in peroneus longus muscle activation time after injury. Independent of the origin of this change, which could only be surmised, the decrease in peroneus longus muscle activity may result in reduced protection against lateral sprains., Clinical Relevance: The assessment of peroneus longus activation pattern during gait is useful to design an appropriate rehabilitation program in athletes suffering from functional ankle instability.