Ehlers-Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers-Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers-Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments.
View Article and Find Full Text PDF: The ability to perceive two tactile stimuli as asynchronous can be measured using the somatosensory temporal discrimination threshold (STDT). In healthy humans, the execution of a voluntary movement determines an increase in STDT values, while the integration of STDT and movement execution is abnormal in patients with basal ganglia disorders. Sensorimotor integration can be modulated using focal muscle vibration (fMV), a neurophysiological approach that selectively activates proprioceptive afferents from the vibrated muscle.
View Article and Find Full Text PDFObjectives: Migraine is one of the most frequent clinical manifestations of hypermobile Ehlers-Danlos syndrome (hEDS). The comorbidity between these two diseases has been only partially investigated. We aimed to observe whether neurophysiological alterations described in migraineurs in visual evoked potentials (VEPs) were present in hEDS patients with migraine.
View Article and Find Full Text PDFGenes (Basel)
December 2022
In 2018, a new clinical subtype, caused by biallelic variants in the gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers-Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel pathogenic variant (NM_001129.
View Article and Find Full Text PDFBackground: In this clinical and psychophysical study, we aimed to verify whether patients with fibromyalgia with and without small-fibre pathology and patients with pure small-fibre neuropathy share common sensory phenotypes.
Methods: Using an algorithm based on quantitative sensory testing variables, we grouped 64 consecutive patients with fibromyalgia (20 with small-fibre pathology, 44 without) and 30 patients with pure small-fibre neuropathy into different sensory phenotypes: sensory loss, thermal hyperalgesia, mechanical hyperalgesia and healthy phenotypes.
Results: We found that the frequency of the different sensory phenotypes differed markedly between patients with fibromyalgia and patients with small-fibre neuropathy.
Background: Low-back pain is a worldwide pain syndrome causing important limitations to daily activity. Common treatment guidelines recommend drugs and exercise.
Aim: To evaluate the efficacy of a standardized NeuroMuscular Taping (NMT) lumbar application in reducing pain and improving function associated with back-school therapy (BST).
Objective: To translate and cross-culturally adapt into Italian the YQOL-DHH (Youth Quality of Life Instrument-Deaf and Hard of Hearing Module), an instrument to evaluate the health-related quality of life in young deaf people. It could be useful for professionals, teachers, and parents to take care of deaf adolescents' needs.
Study Design: Forward-backward translation, cross-cultural adaptation, and cognitive debriefing.
Background: The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue mainly characterized by joint hypermobility. Patients with hEDS suffer joint pain, in particular low back pain, commonly resistant to drug therapy. The aim of this research was to evaluate a neurocognitive rehabilitation approach based not only on the motion and function recovery but also on the pain management.
View Article and Find Full Text PDFPatients with cervical dystonia (CD) show impaired postural control, balance, and gait, likely due to abnormal head postures and sensorimotor disturbances. However, until now no study has investigated whether attention-demanding activity worsens postural control and balance in CD patients. To investigate whether patients with CD show cognitive-motor interference (CMI), a specific kind of dual-task interference that occurs during the simultaneous execution of a cognitive and motor task.
View Article and Find Full Text PDFFocal repetitive muscle vibration (fMV) is a safe and well-tolerated non-invasive brain and peripheral stimulation (NIBS) technique, easy to perform at the bedside, and able to promote the post-stroke motor recovery through conditioning the stroke-related dysfunctional structures and pathways. Here we describe the concurrent cortical and spinal plasticity induced by fMV in a chronic stroke survivor, as assessed with 99mTc-HMPAO SPECT, peripheral nerve stimulation, and gait analysis. A 72-years-old patient was referred to our stroke clinic for a right leg hemiparesis and spasticity resulting from a previous (4 years before) hemorrhagic stroke.
View Article and Find Full Text PDFBalance impairment is a major mechanism behind falling along with environmental hazards. Under physiological conditions, ageing leads to a progressive decline in balance control per se. Moreover, various neurological disorders further increase the risk of falls by deteriorating specific nervous system functions contributing to balance.
View Article and Find Full Text PDFThere is an association between joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS) and different forms of orthostatic intolerance. Objective: to explore autonomic profile in a large cohort of adults with hEDS and hypermobility spectrum disorder (hEDS/HSD) with a multimodal approach. In this observational retrospective study, heart rate, blood pressure and baroreflex sensitivity were estimated in 102 hEDS/HSD subjects during deep breathing, Valsalva maneuver, standing up: 30-15 ratio, Head-Up Tilt and sustained handgrip.
View Article and Find Full Text PDFObjectives: Although pain is a common complication of the hypermobile type of Ehlers-Danlos syndrome, its underlying mechanisms are still an issue of controversy. In this psychophysical study, we aimed at testing small-fiber function and the endogenous pain inhibitory control in patients with pain due to Ehlers-Danlos syndrome.
Methods: In 22 patients with pain due to Ehlers-Danlos syndrome and 22 healthy participants, matched for age and sex, we tested small-fiber function using quantitative sensory testing and the endogenous pain inhibitory control using the conditioned pain modulation (CPM) protocol.
Lower back pain is an extremely common health problem and globally causes more disability than any other condition. Among other rehabilitation approaches, back schools are interventions comprising both an educational component and exercises. Normally, the main outcome evaluated is pain reduction.
View Article and Find Full Text PDFObjective: Several focal muscle vibration (fMV) and whole body vibration (WBV) protocols have been designed to promote brain reorganization processes in patients with stroke. However, whether fMV and WBV should be considered helpful tools to promote post-stroke recovery remains still largely unclear.
Methods: We here achieve a comprehensive review of the application of fMV and WBV to promote brain reorganization processes in patients with stroke.
Repetitive focal muscle vibration (rMV) is known to promote neural plasticity and long-lasting motor recovery in chronic stroke patients. Those structural and functional changes within the motor network underlying motor recovery occur in the very first hours after stroke. Nonetheless, to our knowledge, no rMV-based studies have been carried out in acute stroke patients so far, and the clinical benefit of rMV in this phase of stroke is yet to be determined.
View Article and Find Full Text PDFThe spinal cord spinal cord has in the past been considered a hardwired system which responds to inputs in a stereotyped way. A growing body of data have instead demonstrated its ability to retain information and modify its effector capabilities, showing activity-dependent plasticity. Whereas, plasticity in the spinal cord is well documented after different forms of physical exercise, whether exogenous stimulation can induce similar changes is still a matter of debate.
View Article and Find Full Text PDFPurpose: To evaluate the effects of rotator cuff tear (RCT) and its severity on shoulder proprioception.
Methods: We studied 132 consecutive patients (67 M-65 F; mean age ± SD, 66.03 ± 9.
J Electromyogr Kinesiol
October 2018
We investigated whether a wearable system based on a commercial Inertial Measurement Unit (IMU) can reliably provide the main spatiotemporal gait parameters in subjects with Parkinson's disease (PD), compared to a gold-standard optoelectronic motion capture system. The gait of 22 subjects with PD (Age: 69.4 (6.
View Article and Find Full Text PDFThe Timed Up and Go test (TUG) is used to assess individual mobility. It evaluates static and dynamic balance by means of the total time required to complete the test, usually measured by a stopwatch. In recent years tools based on portable inertial measurement units (IMU) for clinical application are increasingly available on the market.
View Article and Find Full Text PDF. Physical activity initiation and maintenance are particular challenges in the postmastectomy recovery and in particular Dragon Boat racing seems to be a useful sport activity. The aim of this study was to evaluate the role of focal muscle vibration as a proprioceptive input to improve upper limb functioning in a group of "paddlers" patients.
View Article and Find Full Text PDFFew minutes of focal vibration (FV) on limb muscles can improve motor control in neurological (stroke, Parkinson) patients for unknown underlying neurophysiological mechanisms. Here we hypothesized that in healthy volunteers this FV would increase excitability in the primary sensorimotor cortex (S1-M1) during an isometric contraction of the stimulated muscle. The design included an initial control condition with no FV stimulation (Baseline) as well as three short experimental sessions of FV and a Sham (fake) session in a pseudo-random order.
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