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PubMed2005

Deep Brain Stimulation for Dystonia.

Dystonia refers to movement disorders characterized by sustained muscle contractions that produce abnormal postures, twisting movements, and other abnormal involuntary movements. A spectrum of etiologies underlies the various dystonia syndromes, ranging from genetic conditions to brain injury. First-line therapy for dystonia consists of pharmacologic agents of several classes and, particularly for focal dystonia, chemodenervation therapy with botulinum toxin. Many patients with dystonia realize an inadequate response to those treatments, and for such patients whose symptoms are sufficiently troublesome, surgical treatment can be used to reduce symptoms and improve function. Previously, the ablative procedures of thalamotomy and pallidotomy were used, in which a permanent destructive lesion was made in the motor territory of the thalamus or the globus pallidus. More recently, the device-based therapy of deep brain stimulation (DBS) has emerged as the preferred surgical treatment for dystonia and other movement disorders for most patients who require operative intervention. DBS uses a surgically implanted brain lead connected to an implanted neurostimulator to deliver chronic, high- frequency electrical stimulation to one of several deep nuclei. For dystonia, stimulation directed at the globus pallidus internus has been the most thoroughly studied to date. Advantages of DBS include its relatively non-destructive nature, its adjustability and reversibility, and its capacity to be used bilaterally in a safe manner. Use of DBS to treat dystonia is a rapidly evolving area, and preliminary evidence suggests that primary dystonia linked to genetic mutation, other primary dystonias, and tardive dystonic syndromes respond most dramatically to treatment with DBS, whereas secondary dystonia tends to be less responsive.

Journal Article↗
PubMed2005

A new screening tool for cervical dystonia.

BACKGROUND: Family studies of dystonia may be limited in part by small family size and incomplete ascertainment of dystonia in geographically dispersed families. Further, prevalence estimates of dystonia are believed to be underestimates, as most studies are clinic-based and many individuals do not present to a physician or are misdiagnosed. As a low-cost highly sensitive screening tool is needed to improve case detection for genetic and epidemiologic studies, the authors developed the Beth Israel Dystonia Screen (BIDS), a computer-assisted telephone interview. OBJECTIVE: To evaluate the validity and utility of a computer-assisted telephone interview in screening for cervical dystonia. METHODS: The BIDS was administered and videotaped neurologic examinations performed on 193 individuals from 16 families with cervical and cranial dystonia. With use of a final rating of definite dystonia, as determined by video review of a systematic neurologic evaluation, as the gold standard, the predictive value of a subset of questions from the BIDS was assessed. RESULTS: A positive response to at least two of five screening questions had a sensitivity for cervical dystonia of 100% and a specificity of 92%. With use of a positive response to three or more questions, definite dystonia was determined with 81% sensitivity and 97% specificity. CONCLUSIONS: The Beth Israel Dystonia Screen (BIDS) identifies cervical dystonia with excellent sensitivity and specificity in a family-based sample. The authors recommend the BIDS for family studies, but cross-validation in a population sample is advisable before applying this method to epidemiologic studies.

Adolescent↗
PubMed1996

Use of intrathecal baclofen in the treatment of patients with dystonia.

BACKGROUND: Continuous infusion of intrathecal (IT) baclofen is a highly effective standard therapy for severe spasticity of spinal origin. By contrast, there is limited clinical experience regarding the use of IT baclofen in treating patients with dystonia, and little is known regarding the indications for treatment, efficacy, and safety of IT baclofen in this disorder. OBJECTIVE: To study retrospectively the effects of IT baclofen in treating 25 patients with severe segmental or generalized dystonia. SETTING: Neurological Institute, Columbia-Presbyterian Medical Center, New York, NY. PATIENTS: Twenty-five patients with severe segmental or generalized dystonia that was refractory to oral medications underwent IT baclofen test dosing. In addition to dystonia, 17 patients had spasticity or painful spasms. Thirteen of 25 patients responded to the test doses of IT baclofen, according to unblinded neurological assessments that included the patient's subjective report; all 13 underwent implantation of a pump for continuous IT baclofen infusion. RESULTS: In contrast to reports of patients with spasticity of spinal origin, those with dystonia in the present series had a lower response rate to bolus IT baclofen doses and a smaller degree of clinical improvement. For 10 of the 13 responders to the test doses of IT baclofen, dystonia rating scale scores of videotaped examinations by blinded observers detected no significant change (P < .07) in severity of dystonia. Retrospective data from 11 of 13 patients with implantable pumps, followed up for a mean interval of 21 months after pump insertion, showed continuing efficacy in 6 individuals (55%), based on a determination of patient satisfaction; however, only 3 patients (27%) reported a sustained improvement in functional capacity. Five (38%) of the 13 patients with implantable pumps experienced severe complications that required hospitalization. CONCLUSIONS: Despite recent reports that have described the benefit in small numbers of patients with dystonia, we concluded that the role of IT baclofen in treating severe dystonia remains uncertain. Intrathecal baclofen may be more effective when dystonia is associated with spasticity or pain. In the present series, we detected no significant difference in the response to IT baclofen in patients with or without spasticity or pain, perhaps owing to the small sample size.

Baclofen↗
PubMed2001

Dystonia in corticobasal degeneration.

OBJECTIVE: To characterize the clinical features, particularly dystonia, in patients with clinically diagnosed or pathologically proven corticobasal degeneration (CBD). BACKGROUND: Although dystonia has been reported in many neurodegenerative disorders, it has not been studied in CBD. Dystonia, often accompanied by painful rigidity and fixed contractures, is one of the most disabling features of CBD. METHODS: The medical records, imaging studies, and videotapes of 66 patients who satisfied the clinical criteria of CBD, evaluated between 1988 and 1998, were reviewed. The occurrence, nature, and distribution of dystonic features were analyzed and correlated with other features of CBD. RESULTS: Of the 66 patients with CBD, 39 (59.0%) had dystonia. The mean age at onset of initial symptoms was 63.9 years (range 44--75). In 20 (51.0%) patients, dystonic symptoms began in one arm, while 13 (33.0%) patients had initial leg involvement. At least one arm was affected in 36 (92.0%) dystonic patients. Although 11 (28.0%) patients had leg dystonia, the leg was the predominant site of involvement in only 1 patient. Only 12 (31.0%) patients had dystonia involving the head, neck, or trunk in the course of the disease. The diagnosis of CBD was confirmed in all 4 patients who had autopsies. CONCLUSION: In this large series of CBD patients we found that asymmetric limb dystonia, particularly affecting one arm, is a common manifestation of CBD; dystonia may be the initial manifestation of this neurodegenerative disorder. Axial or leg dystonia, without significant involvement of an arm, is rare. There is no effective treatment for this relentless disorder, except for temporary relief of dystonia and pain, with local botulinum toxin injections.

Adult↗
PubMed1987

Localized injections of botulinum toxin for the treatment of focal dystonia and hemifacial spasm.

Medical treatment of dystonia usually results in an incomplete response and is frequently unsuccessful. Peripheral surgical therapy is available for some focal dystonias, but may only offer temporary relief and may have unacceptable complications. We have used local injections of botulinum toxin into the appropriate muscles for treatment of disabling focal or segmental dystonia in 93 patients with torticollis, blepharospasm, oromandibular dystonia (OMD), limb dystonia, lingual dystonia, and dystonia adductor dysphonia, in addition to four patients with hemifacial spasm. Significant relief of motor symptoms was seen in 69% of the patients with blepharospasm and 64% of patients with torticollis; 74% of the latter group with pain experience relief. Relief of symptoms was noted in most patients with OMD and limb dystonia, and all with lingual dystonia, dystonic adductor spastic dysphonia, and those with hemifacial spasm. Benefit averaged 2 1/2-3 months initially; however some patients experienced longer relief with subsequent injections. Adverse effects were transient, although 2 patients developed antibodies against the toxin, and we documented evidence for distant effects in others. This approach of chemically weakening contracting muscles in focal dystonia offers many advantages over pharmacotherapy and surgical therapy. Additional experience is needed to explore the proper doses, and potential for long term adverse effects.

Adult↗
PubMed1995

Spread of symptoms in idiopathic torsion dystonia.

We reviewed the histories of 115 patients who had idiopathic dystonia and who were 21 years of age and younger at onset of symptoms and 472 patients with onset older than age 21. Patients with onset in the lower extremities tended to be younger at onset (mean age 8.4 years), have rapid spread of symptoms to other body parts, and to develop generalized dystonia. Patients with onset in the upper extremities tended to be older at onset (mean age 11.2 years) and were less likely to develop generalized dystonia, but were more likely to experience spread of symptoms many years after the disease began. Almost 20% of patients younger than age 22 began with torticollis, and 67% of these remained focal after a mean 14.9 years. In adults, dystonic symptoms remained focal in the majority, but approximately 15-30% of patients presenting with blepharospasm, torticollis, laryngeal or brachial dystonia eventually experienced dystonia outside the initially involved segment. Almost 50% of children and adolescents with dystonia reported a family history of dystonia, compared with approximately 10-13% of patients with torticollis, laryngeal or brachial dystonia. Less than 3% of patients with blepharospasm reported a family history of dystonia. There were only minor differences in the pattern of spread of dystonic symptoms between Jewish and non-Jewish patients. Although younger patients were more likely to report a family history of dystonia, patterns of spread were the same for familial and sporadic patients in the same age range.

Adolescent↗
PubMed2002

Botulinum toxin treatment in atypical parkinsonian disorders associated with disabling focal dystonia.

We investigated the efficacy of botulinum toxin A (BtxA) therapy in patients with atypical parkinsonian disorders (APD) exhibiting different types of disabling focal dystonia unresponsive to oral drug therapy. Eight patients with functionally disabling focal dystonia out of a series of 60 consecutive patients with APDs regularly treated at our outpatient movement disorders clinic were included. Patients were diagnosed according to established criteria and had disabling limb dystonia (n=4) or craniocervical dystonia (n=4) unresponsive to oral pharmacological treatment. Localization and dose of BtxA injections was determined individually based on clinical examination as well as EMG in patients with limb dystonia. BtxA reduced dystonic symptoms in all patients; only one developed a transient local side-effect. BtxA was particularly effective in the long-term treatment (up to 50 months) of blepharospasm associated with progressive supranuclear palsy (PSP). BtxA also alleviated PSP-associated retrocollis and orofacial dystonia with lower lip retraction associated with PSP and multiple system atrophy. BtxA treatment of limb dystonia in corticobasal degeneration (CBD) temporarily improved hand and arm function in early-disease stages while treatment in advanced stages reduced pain, facilitated hygiene and prevented secondary contractures. Limb dystonia was also alleviated by BtxA therapy in one patient with neuronal multisystem degeneration of undetermined cause. The results suggest that BtxA therapy may represent an effective means of alleviating disabling focal dystonia in different APDs. Particularly in early stage APD with disabling limb dystonia local BtxA injections may result in functional improvement.

Adult↗
PubMed2003

Childhood dystonia.

Childhood dystonias are a heterogeneous group of disorders with strong inherited basis. This review describes the clinical characteristics, classification, genetic basis, pathophysiology, biochemistry, pathology, and treatment of dystonias, including the primary dystonias, the dystonia-plus syndromes, secondary dystonias, and heredodegenerative disorders. Conditions discussed in detail include idiopathic torsion dystonia, dopa-responsive dystonia, Wilson's disease, myoclonus dystonia, rapid-onset dystonia parkinsonism, neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome), mitochondrial dystonias, Niemann-Pick type C, and neuroacanthocytosis.

Child↗
PubMed2002

Inherited and de novo mutations in sporadic cases of DYT1-dystonia.

A study of Danish probands with primary torsion dystonia is presented. The probands were examined clinically and biochemically to exclude secondary dystonia. Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three. All three probands had the classical phenotype of DYT1-dystonia, but only one had a family history of dystonia. The other two probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the other one had a parent being an asymptomatic carrier. De novo mutations in the DYT1 gene are seldom reported although independent founder mutations are known to have occurred. The frequency of DYT1-dystonia was low in our study even though several probands had early onset generalised dystonia. None of the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia exemplified by DYT1-dystonia are outlined.

Carrier Proteins↗
PubMed1999

Tardive dystonia.

This paper provides an overview of the phenomenology, epidemiology, and treatment of tardive dystonia. Tardive dystonia is one of the extrapyramidal syndromes that starts after long-term use of dopamine receptor antagonists. The diagnosis is based on the presence of chronic dystonia, defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Furthermore, dystonia must develop either during or within 3 months of a course of antipsychotic treatment, and other causes such as Wilson's disease, acute dystonia, or a conversion reaction must be ruled out. Tardive dystonia occurs in about 3 percent of patients on long-term antipsychotic treatment. Some probable risk factors for tardive dystonia are younger age, male, and the presence of tardive dyskinesia. The treatment of tardive dystonia starts with an evaluation of the need for using the causative drug. If antipsychotics must be continued, a switch to an atypical antipsychotic, particularly clozapine, may be helpful. If the dystonia is relatively localized, botulinum toxin is an effective but not well-known treatment possibility. If tardive dystonia is more extensive, either dopamine-depleting drugs or high dosages of anticholinergics can be tried.

Adult↗
PubMed1997

An open-label study of botulinum toxin A for treatment of tardive dystonia.

Tardive dystonia is a form of tardive dyskinesia for which there is little satisfactory treatment. We reviewed our experience at four movement disorder centers in the treatment of tardive dystonia with botulinum toxin A (BTX-A). Thirty-four patients with relatively localized tardive dystonia unresponsive to oral medications were treated with injections of BTX-A into dystonia muscles. Cervical dystonia was the most frequent manifestation of tardive dystonia in this group of patients. There was marked or moderate improvement in 29 of 34 patients. Eighteen of 24 patients with cervical dystonia showed either marked or moderate improvement. In this retrospective review, BTX-A provided useful symptomatic treatment for localized dystonia in patients with tardive dystonia unresponsive to other treatment. A controlled, prospective trial of BTX-A in tardive dystonia is warranted.

Botulinum Toxins, Type A↗
PubMedDate not supplied

Deep brain stimulation for dystonia.

Within the past few years, there has been a renaissance of functional neurosurgery for the treatment of dystonic movement disorders. In particular, deep brain stimulation (DBS) has widened the spectrum of therapeutical options for patients with otherwise intractable dystonia. It has been introduced only with a delay after DBS became an accepted treatment for advanced Parkinson' disease (PD). In this overview, the authors summarize the current status of its clinical application in dystonia. Deep brain stimulation for dystonia has been developed from radiofrequency lesioning, but it has replaced the latter largely in most centers. The main target used for primary dystonia is the posteroventral globus pallidus internus (GPi), and its efficacy has been shown in generalized dystonia, segmental dystonia, and complex cervical dystonia. The optimal target for secondary dystonias is still unclear, but some patients appear to benefit more from thalamic stimulation. The improvement of dystonia with chronic DBS frequently is delayed, in particular concerning tonic dystonic postures. Because more energy is needed for stimulation than in other movement disorders such as PD, more frequent battery replacements are necessary, which results in relatively higher costs for chronic DBS. The study of intraoperative microelectrode recordings and of local field potentials by the implanted DBS electrodes has yielded new insights in the pathophysiology of dystonia. Larger studies are underway presently to validate the observations being made.

Brain Mapping↗
PubMed1997

Dystonia in progressive supranuclear palsy.

OBJECTIVES: To document the nature, distribution, and frequency of dystonic symptoms in progressive supranuclear palsy (PSP). METHODS: Charts and videotapes of all clinically diagnosed patients with PSP seen between 1983 and 1993 were reviewed and the occurrence, nature, and distribution of all dystonic symptoms were recorded. RESULTS: Of 83 identified cases 38 had some dystonic features. Twenty (24%) had blepharospasm (one was induced by levodopa), 22 (27%) had limb dystonia (one was induced by electroconvulsive therapy and another by levodopa), 14 (17%) had axial dystonia in extension, one had oromandibular dystonia induced by levodopa, and two had other cranial dystonias. Six patients had limb dystonia as an early or presenting feature, sometimes leading to misdiagnosis of cortical-basal ganglionic degeneration. All three patients who had postmortem confirmation of the diagnosis had other concurrent disease. One patient with bilateral limb dystonia and blepharospasm had evidence of previous hydrocephalus and severe arteriosclerotic changes. One with arm dystonia also had cerebrovascular disease and one with hemidystonia also had rare swollen chromatolytic neurons in the frontotemporal cortex. CONCLUSIONS: Dystonia is a common manifestation of PSP. Limb dystonia is particularly common and may indicate the presence of concurrent disease. When dystonia occurs in PSP, dopaminergic medication should be cautiously reduced or discontinued to rule out the possibility of treatment induced symptoms.

Aged↗
PubMed2005

Spontaneous pallidal neuronal activity in human dystonia: comparison with Parkinson's disease and normal macaque.

Dystonia is a movement disorder defined by sustained muscle contractions, causing twisting and repetitive movements and abnormal postures. To understand the abnormalities in pallidal discharge in dystonia, we have analyzed the spontaneous activity of 453 neurons sampled from the internal or external pallidum (GPi or GPe) of 22 patients with dystonia, 140 neurons from 11 patients with Parkinson's disease (PD), and 157 neurons from two normal non-human primates (NHPs; Macacca mulatta). All recordings were performed without systemic sedation. Mean GPi discharge rate in dystonia was 55.3 +/- 1.3 (SE) Hz. This was significantly lower than in the normal NHPs (82.5 +/-2.5 Hz) and lower than in PD patients (95.2 +/- 2.3 Hz). Mean GPe discharge rate in dystonia (54.0 +/- 1.9 Hz) was lower than in the normal NHPs (69.7 +/- 3.3 Hz) and was indistinguishable from that in PD patients (56.6 +/- 3.5 Hz). Mean GPi discharge rate was inversely correlated with dystonia severity. GPi showed increased oscillatory activity in the 2- to 10-Hz range and increased bursting activity in both dystonia and PD as compared with the normal NHPs. Because the abnormalities in discharge patterns were similar in dystonia compared with PD, we suggest that bursting and oscillatory activity superimposed on a high background discharge rate are associated with parkinsonism, whereas similar bursting and oscillations superimposed on a lower discharge rate are associated with dystonia. Our findings are most consistent with a model of dystonia pathophysiology in which the two striatal cell populations contributing to the direct and indirect intrinsic pathways of the basal ganglia both have increased spontaneous activity.

Action Potentials↗
PubMed1999

Reorganization in the cutaneous core of the human thalamic principal somatic sensory nucleus (Ventral caudal) in patients with dystonia.

A wide range of observations suggest that sensory inputs play a significant role in dystonia. For example, the map of the hand representation in the primary sensory cortex (area 3b) is altered in monkeys with dystonia-like movements resulting from overtraining in a gripping task. We investigated whether similar reorganization occurs in the somatic sensory thalamus of patients with dystonia (dystonia patients). We studied recordings of neuronal activity and microstimulation-evoked responses from the cutaneous core of the human principal somatic sensory nucleus (ventral caudal, Vc) of 11 dystonia patients who underwent stereotactic thalamotomy. Fifteen patients with essential tremor who underwent similar procedures were used as controls. The cutaneous core of Vc was defined as the part of the cellular thalamic region where the majority of cells had receptive fields (RFs) to innocuous cutaneous stimuli. The proportion of RFs including multiple parts of the body was greater in dystonia patients (29%) than in patients with essential tremor (11%). Similarly, the percentage of projected fields (PFs) including multiple body parts was higher in dystonia patients (71%) than in patients with essential tremor (41%). A match at a thalamic site was said to occur if the RF and PF at that site included a body part in common. Such matches were significantly less prevalent in dystonia patients (33%) than in patients with essential tremor (58%). The average length of the trajectory where the PF included a consistent, cutaneous RF was significantly longer in patients with dystonia than in control patients with essential tremor. The findings of sensory reorganization in Vc thalamus are congruent with those reported in the somatic sensory cortex of monkeys with dystonia-like movements resulting from overtraining in a gripping task.

Age of Onset↗
PubMed1991

A review of 32 cases of tardive dystonia.

OBJECTIVE: Tardive dystonia, historically combined with tardive dyskinesia, is now viewed as probably having a different pathophysiology, course, outcome, and treatment response than tardive dyskinesia. In addition, patients with tardive dystonia are reported to be younger, and most are men. This study evaluates characteristics of 32 patients with tardive dystonia and compares results to other reports. METHOD: Twenty-four patients had been referred for research purposes and were videotaped, while eight had been followed clinically. Two of the authors reviewed all available videotapes and clinical reports to assess the course of symptoms over time. For global ratings and ratings of affected body parts, two scales were used: the Abnormal Involuntary Movement Scale (AIMS) for tardive dyskinesia and a similar scale for tardive dystonia. The method of case finding does not provide incidence or prevalence data for tardive dystonia. RESULTS: Fifty-nine percent of the patients experienced onset of tardive dystonia symptoms within 6 years of antipsychotic drug exposure; women had a shorter exposure time. No patient had complete remission of tardive dystonia symptoms, and 22 were moderately or severely impaired when their movements were most prominent. CONCLUSIONS: While epidemiological studies of tardive dystonia have yet to be performed, these results support the observations of others that most patients with tardive dystonia are men, have a short history of exposure to antipsychotic drugs, and may initially present with blepharospasm. Tardive dystonia rarely remits completely, can cause notable disability, and may partially respond to anticholinergic agents.

Adult↗
PubMed2004

Deep brain stimulation for dystonia.

Dystonia is a movement disorder characterized by involuntary muscular contractions that generate twisting and repetitive movements and/or abnormal postures. It can affect a few muscle groups (focal dystonia) or spread to most muscles in the body (generalized dystonia). While botulinum toxin injections can be successfully used to treat focal dystonias, medical options for generalized dystonia are very limited. Surgical therapies--and in particular deep brain stimulation (DBS)--are becoming the standard of care for medically intractable, disabling dystonias. Advantages of DBS include reversibility, adjustability and continued access to the therapeutic target. Initial reports describing the use of DBS in generalized dystonia have been very encouraging and experience in the use of DBS to treat various forms of dystonia is continuously growing. This article reviews the issues related to DBS treatment of dystonia, including proper patient selection, surgical approaches to target choice and device implant, a description of the stimulating device and its programming principles, clinical results - with a focus on different outcomes for primary versus secondary and generalized versus cervical dystonia - and complications.

Deep Brain Stimulation↗
PubMedDate not supplied

[Clinico-pathomorphologic correlations in patients with symptomatic dystonias].

Symptomatic dystonia can be the result of various metabolic, degenerative diseases, the consumption of certain medications or exposure to toxic agents. However, only symptomatic dystonia with focal structural lesion provides a significant "window" for, at least indirect, perception of aetiopathogenesis and pathomorphological substratum of idiopathic dystonia. Our study included 57 patients with symptomatic dystonia, which as a base had focal or multifocal lesions, of whom 7 patients had generalized dystonia, 18 hemidystonia, 6 segmental dystonia, 7 torticollis, 6 blepharospasm, 7 hand dystonia, 3 spasmodic dysphonia, and 3 had oromandibular dystonia. Stroke was highly statistically the most frequent cause of structural lesions (33/57 or 58%). Relevant pathomorphological changes were present in 50/57 (88%) patients, of whom 25 (50%) had lesion in the lenticular nucleus (including individual damage of the putamen and globus pallidus), 12/50 (24%) had damage of the thalamus and 6/50 (12%) had damage of the brainstem. Generalized dystonia was most frequently associated with bilateral lesion of the putamen, hemidystonia with lesion of contralateral putamen, torticollis with damage of the caudate nucleus, hand dystonia with lesion of the thalamus and blepharospasm with lesion of the upper brainstem.

Adolescent↗