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This observational study aimed at investigating pain in stroke patients with upper limb spastic dystonia. Forty-one consecutive patients were enrolled. A 0-10 numeric rating scale was used to evaluate pain at rest and during muscle tone assessment. Patients were asked to indicate the most painful joint at passive mobilization (shoulder, elbow, wrist-fingers). The DN4 questionnaire was administered to disclose neuropathic pain. All patients were assessed just before and 1 month after incobotulinumtoxin-A treatment. Pain was present in 22 patients, worsened or triggered by passive muscle stretching. DN4 scored < 4 in 20 patients. The most painful joints were wrist-fingers in 12 patients, elbow in 5 patients and shoulder in the remaining 5 patients. Both elbow and wrist-fingers pain correlated with muscle tone. BoNT-A treatment reduced pain in all the joints, including the shoulder. We discussed that nociceptive pain is present in a vast proportion of patients with upper limb spastic dystonia. BoNT-A treatment reduced both spastic dystonia and pain in all the joints but the shoulder, where the effect on pain could be mediated by the reduction of pathological postures involving the other joints.

Background: Spasticity and spastic dystonia are two separate phenomena of the upper motor neuron syndrome. Spasticity is clinically defined by velocity-dependent hypertonia and tendon jerk hyperreflexia due to the hyper-excitability of the stretch reflex. Spastic dystonia is the inability to relax a muscle leading to a spontaneous tonic contraction. Both spasticity and spastic dystonia are present in patients who are at rest; however, only patients with spasticity are actually able to kept their muscles relaxed prior to muscle stretch. The idea that has inspired the present work is that also in patients with spastic dystonia the stretch reflex is likely to be hyper-excitable. Therefore, velocity-dependent hypertonia could be mediated not only by spasticity, but also by spastic dystonia., Methods: Tonic stretch reflexes in the rectus femoris muscle were evoked in 30 patients with multiple sclerosis showing velocity-dependent hypertonia of leg extensors and the habituation of the reflex was studied. Moreover, the capability of relax the muscle prior to muscle stretch (spastic dystonia) was also investigated., Results: A tonic stretch reflex was evoked in all the enrolled patients. 73% of the patients were able to relax their rectus femoris muscle prior to stretch (spasticity). In the overwhelming majority of these patients, the tonic stretch reflex decreased during repeated stretches. In the remaining 27% of the subjects, the muscle was tonically activated prior to muscle stretch (spastic dystonia). In the patients in whom spastic dystonia progressively increased over the subsequent stretches (50% of the subjects with spastic dystonia), the habituation of the reflex was replaced by a progressive reflex facilitation., Discussion: This study shows for the first time that velocity-dependent hypertonia can be caused by two distinct phenomena: spasticity and spastic dystonia. The habituation of the tonic stretch reflex, which is a typical feature of spasticity, is replaced by a reflex facilitation in the half of the subject with spastic dystonia. These preliminary findings suggest that differentiating the two types of velocity-dependent muscle hypertonia (spasticity and spastic dystonia) could be clinically relevant., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Since 1997, focused shock waves therapy (FSWT) has been reported to be useful in the treatment of muscle hypertonia and dystonia. More recently, also radial shock wave therapy (RSWT) has been successfully used to treat muscle hypertonia. The studies where FSWT and RSWT have been used to treat muscle hypertonia and dystonia are reviewed in this paper. The more consistent and long lasting results were obtained in the lower limb muscles of patients affected by cerebral palsy with both FSWT and RSWT and in the distal upper limb muscles of adult stroke patients using FSWT. The most probable mechanism of action is a direct effect of shock waves on muscle fibrosis and other nonreflex components of muscle hypertonia. However, we believe that up to now the biological effects of shock waves on muscle hypertonia and dystonia cannot be clearly separated from a placebo effect.

Objective: To investigate the frequency and the main clinical features of tremor in primary adult-onset dystonia (PAOD)., Methods: This cross-sectional study was conducted on 429 patients with PAOD from eight Italian movement disorder centres., Results: Of the 429 dystonic patients, 72 (16.7%) had tremor. Although sex and age at dystonia onset were similar in dystonic patients who had tremor and those who did not, patients who had tremor were affected more often by focal cervical dystonia and less often by focal blepharospasm. Dystonia had a greater tendency to spread in patients with tremor. According to the Movement Disorder Society Consensus Statement, tremor was classified as dystonic tremor (DT) in 43 patients and tremor associated with dystonia (TAWD) in 23 patients. Six patients had both types of tremor. Taking into account potential confounding by age at onset and body distribution of the corresponding dystonia type, all the clinical features in patients with DT and in those with TAWD were comparable except the tendency of dystonia to spread, which was greater in patients with DT., Conclusions: Tremor is a relatively common feature occurring in about 17% of patients with primary late-onset dystonia. The association between tremor and dystonia spread suggests that this form of tremor may be a dystonic manifestation. Similarities in phenotypic features of DT and TAWD predominated over differences, suggesting that the two forms of tremor may be manifestations of the same disease. Differences in gender and body distribution of tremor between patients with dystonia and tremor and those of patients with essential tremor also suggest that tremor in dystonia and essential tremor are different entities.

Schizencephaly is regarded as a malformation of cortical development (due to abnormal neuronal organization) and may be associated with continuous involuntary hand movements. The mechanisms underlying these movements are not clear and both dystonia and epilepsia partialis continua have been considered in previously reported cases. We describe a young patient affected by schizencephaly and continuous involuntary movements of the contralateral hand. Functional MRI showed bilateral cerebral activation, while the subject performed tapping movements with the affected hand and no significant difference in the activation pattern after diazepam infusion. Standard and back-averaged EEG showed no alterations. The results obtained from these investigations and the clinical features of the involuntary movements are not in favor of an epileptic genesis, while support the diagnosis of secondary dystonia.

Objective: To investigate the possible correlations between clinico-radiological features and pathophysiological mechanisms in patients with dystonia secondary to focal brain lesions., Methods: Single and paired-pulse transcranial magnetic stimulation was used to assess corticospinal excitability in 10 patients (4 females; mean age 61) and a group of normal controls. Active threshold, latency and amplitude of motor evoked potentials (MEPs), silent period (SP) duration and short-interval intracortical inhibition (SICI) were evaluated., Results: Patients with lesions involving the putamen and caudate presented with dystonic postures at rest. TMS assessment in these subjects showed increased MEP amplitude on the affected side and a bilateral decrease of SP duration and SICI. When the lesion spared the putamen and caudate, mainly involving the thalamus, the clinical picture was dominated by slow repetitive involuntary movements and tremor. In the affected side of these subjects the MEP amplitude was reduced and the MEP threshold was increased., Conclusions: When putamen and caudate were lesioned, the patients presented with dystonic postures at rest; furthermore the patients showed changes of corticospinal excitability in comparison to both healthy subjects and other dystonic patients., Significance: There are correlations between type of dystonia, site of the lesion and neurophysiological findings., (Copyright © 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)

Methods: Using a validated questionnaire, we screened eye symptoms (burning sensation, grittiness, dry eye) in 333 first-degree relatives of 140 probands with different forms of primary adult-onset dystonia, 208 healthy subjects, and 293 patients with primary blepharospasm., Results: The rate of eye symptoms was similar in the relatives of focal dystonia patients and in healthy subjects (adjusted HR, 1.1; 95% CI, 0.7-1.7; P = .69), thus suggesting a common origin of eye symptoms in both groups. A higher rate was observed in blepharospasm patients (adjusted HR, 2; 95% CI, 1.4-2.9; P < .0001). Relatives of focal dystonia patients who developed blepharospasm were more likely to have preceding eye symptoms than were relatives who developed focal dystonia other than blepharospasm (BSP) or relatives who did not develop dystonia., Conclusions: Eye symptoms reported by relatives of patients with focal dystonia probably result from eye diseases and are not part of the clinical spectrum of blepharospasm., (Copyright © 2011 Movement Disorder Society.)

Background: Although environmental and genetic factors may contribute to the etiology of blepharospasm, their relative contribution in causing familial and sporadic blepharospasm is unknown., Methods: First-degree relatives of 122 patients with primary blepharospasm were examined with a validated 2-step diagnostic procedure, including a screening questionnaire and examination of some relatives. Examiners were blinded to the questionnaire data for family history of probands. Data for demographic and clinical features, prior ophthalmologic complaints, and nondecaffeinated coffee intake were collected from probands before family investigation., Results: Dystonia was diagnosed in 27 relatives from 23 families (20% rate of family history for dystonia). No significant differences were found between familial and sporadic cases in the frequency of coffee drinking and eye diseases or in sex, age at onset, or tendency to spread. Multivariable conditional logistic analysis testing of 67 case patients and 127 family-matched unaffected siblings yielded a significant positive association between blepharospasm and prior eye diseases (adjusted odds ratio [OR] 2.5; 95% confidence interval [CI] 1.1-6.1; p = 0.03) and a significant inverse association between case status and ever coffee drinking (adjusted OR 0.23; 95% CI 0.1-0.8; p = 0.02)., Conclusions: The new information from this large family-based study on primary blepharospasm strongly supports eye diseases and coffee as risk factors for blepharospasm. The finding that the 2 environmental exposures exerted a similar influence on familial and sporadic blepharospasm, together with the convergent phenotypic expression in familial and sporadic cases, implies that familial and sporadic blepharospasm probably share a common etiologic background.

When reaching movements are performed in an unusual area of work, normal subjects produce a rightward directional error. This has been considered to be caused by an impaired representation of limb configuration, which hampers the actual movement vector. Motor programming has been found to be impaired in dystonia. To understand how patients affected by idiopathic cervical dystonia (CD) perform reaching movements in an unusual area of work, we investigated 10 CD patients and 10 age-matched controls. Reaching movements on a digitized tablet were recorded both with the right arm aligned to the midline (central position) and shifted to the right (lateral position), but hidden from view. While differences in the main kinematic parameters were not affected by the position both in patients and controls, the directional error was significantly increased in dystonic patients for the lateral position. We hypothesise that an impaired integration of proprioceptive information with the motor output and egocentric spatial perception could be responsible for a greater error in spatial representation of hand location and consequently to an increased directional error in dystonic patients., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Background and Purpose: Despite the growing number of reports describing adult-onset primary lower limb dystonia (LLD) this entity has never been systematically evaluated in the general population of patients with primary adult-onset dystonia., Methods: From outpatients with adult-onset primary dystonia attending nine Italian University centres for movement disorders we consecutively recruited 579 patients to undergo a standardized clinical evaluation., Results: Of the 579 patients assessed, 11 (1.9%) (8 women, 3 men) had LLD, either alone (n = 4, 0.7%) or as part of a segmental/multifocal dystonia (n = 7, 1.2%). The age at onset of LLD (47.9 +/- 17 years) was significantly lower than the age at onset of cranial dystonias (57.9 +/- 10.7 years for blepharospasm, and 58.9 +/- 11.8 years for oromandibular dystonia) but similar to that of all the other adult-onset primary dystonias. The lower limb was either the site of dystonia onset (36.4%) or the site of dystonia spread (63.6%). In patients in whom LLD was a site of spread, dystonia seemed to spread following a somatotopic distribution. Only one patient reported a recent trauma involving the lower limb whereas 36.4% of the patients reported pain at the site of LLD. Only 64% of our patients needed treatment for LLD, and similarly to previously reported cases, the most frequently tried treatments was botulinum toxin and trihexyphenidyl., Conclusion: The lower limb is an uncommon but possible topographical site of dystonia in adulthood that should be kept in consideration during clinical evaluation.

A simple visual reaction time (RT) paradigm was used to investigate whether the velocity of relaxation is impaired in dystonia. In 16 subjects with a clinical diagnosis of adult-onset focal, segmental or multifocal dystonia and in 15 age-matched normal controls, the relaxation reaction time (R-RT) and the contraction reaction time (C-RT) were compared across different tasks involving the flexor carpi radialis (FCR), biceps brachii (BB) and triceps brachii (TR) arm muscles. In normal controls, the latency of EMG termination (R-RT) was significantly shorter than the latency of electromyographic (EMG) onset (C-RT) in the BB and TR muscles, but not in the FCR muscle. In dystonic patients, the latency of EMG termination (R-RT) was significantly longer than the latency of EMG onset (C-RT) in the FCR and BB muscles. No significant difference of the C-RT was observed between patients and controls whereas the R-RT was prolonged significantly in the BB and TR muscles of patients with dystonia and almost significantly in the FCR muscle. This study indicates that muscle relaxation is abnormal in patients with focal (multifocal or segmental) dystonia. The impaired muscle relaxation may contribute to the longer overlap of agonist-antagonist activities (co-contraction) typically observed in dystonia and to the slowness of voluntary movement sequencing., (Copyright 2004 Movement Disorder Society)

Background and purpose: Extracorporeal shock wave therapy (ESWT) has been shown to reduce hypertonia in patients with upper motor neuron syndrome without any side effect. The aim of the present study is to investigate whether ESWT could be useful also in patients with dystonia. Methods: We evaluated three patients with secondary dystonia and three patients with idiopathic writer’s cramp. Placebo treatment was performed in each patient. ESWT was administered during four sessions (once weekly) to the target muscles of hand and forearm using an electromagnetic lithotripter (Modulith SLK – Storz Medical). Clinical evaluation was performed using the Unified Dystonia Rating Scale in patients with secondary dystonia and the Arm Dystonia Disability Scale in patients with writer’s cramp. Results: After treatment, the three patients with secondary dystonia showed a marked improvement which lasted at least until 1 month after the last session. In the patients with writer’s cramp, the improvement after ESWT was less consistent being effective only in two subjects. There were no associated adverse effects. Conclusions: Extracorporeal shock wave therapy is probably an effective and safe treatment for upper limb dystonia, particularly for the secondary forms. Larger randomized studies are needed to confirm these preliminary results. [ABSTRACT FROM AUTHOR]

Dystonia is a disorder of both motor and sensory function, clinically characterized by involuntary movements, abnormal postures, and abnormal sensory discrimination. Whereas most data on the physiology of motor cortices are consistent with a general frame of reduced inhibition and maladaptative plasticity, electrophysiological data in sensory cortices are controversial. Habituation refers to response decrement with repeated stimulation, and reflects mechanisms that alter synaptic effectiveness in the stimulated cortex through LTD or LTP-like phenomena. We investigated somatosensory evoked potentials (SEPs) habituation in patients with dystonia and hemifacial spasm (HSF). We recorded median-nerve SEPs in 28 patients (8 cranial, 4 cervical, 1 cranial-cervical dystonia, 15 HSF) and 18 age-matched controls. We measured N20-P25 amplitudes from 3 blocks of 200 sweeps, and assessed amplitude of block 1, and habituation from amplitude changes between the 3 sequential blocks. ANOVA showed a main effect of factor group ( F = 4.4 p = 0.015). In patients with dystonia, SEP amplitudes were normal in block 1, but thereafter failed to habituate ( p = 0.03). Patients with hemifacial spasm had normal SEP amplitudes and habituation ( p = 0.98). SEP habituation is altered in dystonia indicating that somatosensory cortex becomes hyperresponsive. This abnormality is not the result of involuntary movements because in patients with HSF SEPs habituate normally. [ABSTRACT FROM AUTHOR]