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PubMedDate not supplied

[Familial dystonia: a case of idiopathic torsion dystonia].

A 43 year old man suffered from the involuntary movements since 10-th year of age. Those movements, initially mild, have progressed in the course of the disease. In the neurological examination the dystonic involuntary movements of the neck, trunk and limbs, more expressed on the right side, were observed. The laboratory findings were normal, except the level of dopamine beta-hydroxylase, which was increased. Similar results were observed also in the closest relatives of our patient. After the treatment with high doses of L-Dopa we achieved a considerable decrease of the symptoms.

Adult↗
PubMed2002

Dystonia: clinical features, genetics, and treatment.

PURPOSE OF REVIEW: The present review covers recent advances in dystonia research related to dystonia genetics and treatment. These have led to the discovery of novel dystonia genes and loci, to changing classification schemes, and to the introduction of improved and new treatment options. RECENT FINDINGS: Currently 13 different forms of dystonia can be distinguished on a genetic basis (dystonia types 1-13). Recently, a novel gene locus (DYT13) was detected in a family with segmental dystonia, and the gene causing myoclonus-dystonia was identified (SGCE). Furthermore, a novel mutation in the DYT1 gene is associated with a myoclonus-dystonia phenotype. Regarding dystonia treatment, patients refractory to botulinum toxin type A can now be treated with botulinum toxin type B. Selective peripheral denervation remains an effective form of treatment for patients with secondary, but probably not with primary botulinum toxin treatment failure. Finally, a renaissance of functional surgical ablative procedures has taken place, with high frequency deep brain stimulation being introduced in dystonia treatment. Bilateral pallidotomy or pallidal stimulation may provide major benefit especially in patients with generalized, disabling dystonia with the most dramatic improvements in dystonia type 1 patients. Neurostimulation may also be effective in primary segmental axial dystonia, myoclonus-dystonia, and tardive dystonia. SUMMARY: The recent mapping of additional dystonia gene loci, the identification of novel dystonia genes, and the characterization of proteins encoded by these genes have enhanced our understanding of various forms and aspects of the dystonias and have opened up new avenues for research. Treatment options include both medical and surgical therapies, with deep brain simulation being the most recent development.

Carrier Proteins↗
PubMed2003

[Parkinsonian dystonia].

Dystonias are frequently observed in Parkinson's disease or other parkinsonian syndromes. They can occur during off-periods, either in the morning (early morning dystonia) or during daily off-periods, and during on-periods. Dystonia involves more frequently the upper and lower limbs, the neck or the face. Dystonia can be painful in particular off-period feet dystonia. The mechanisms underlying dystonia are not fully understood, basal ganglia activity and levodopa levels seems to play an important role. There are several medical options to try and improve those dystonias, adjustment of levodopa doses, adding a dopamine agonist drug, anticholinergics, lithium, baclofene or clonazepam. Those options are not always very effective. Botulinum toxin injections are an alternative treatment for focal dystonia. Muscles have to be selected by observation of the dystonia. Deep muscles in particular in the legs can be injected under EMG guidance. Botulinum toxin injections are particularly helpful and safe for lower limb dystonia. They can be used also for other forms of dystonia. Upper limb dystonia can be injected, allowing more comfort and easier hygiene but not necessarily better function, weakness is the main side effect. Cervical dystonia, blepharospam and oromandibular dystonia can be managed the same way as idiopathic dystonia. The dose might be lower since the muscles are usually not as hypertrophic. Side effects are as expected dysphagia and neck weakness in case of cervical dystonia, ptosis, inocclusion and diplopia in case of blepharospasm, jaw opening difficulty with oromandibular dystonia. Basal ganglia surgery can also help dystonia in a selected population of parkinsonian patients.

Anti-Dyskinesia Agents↗
PubMedDate not supplied

[Delayed-onset dystonia due to asphyxia in the perinatal period].

The phenomenon of delayed-onset dystonia following presumed "static" brain injuries was described after stroke and head trauma. Burke et al. described a different category of secondary dystonia, where perinatal injury (asphyxia) caused minimal or no immediate neurological deficit, with the delay of years before dystonia emerged. This type of dystonia following perinatal injury has been termed "delayed onset dystonia due to static encephalopathy of childhood". According to the definition of dystonia, we were able to select 5 patients with the aetiologic diagnosis of perinatal asphyxia from the group of 347 out- and inpatients (1.4%) treated for various types of dystonia at the Movement Disorders Department (Institute of Neurology, CCS, Belgrade) from November 1986 to November 1994. At onset of dystonia the mean age of patients was 13.2 years (range from 10 to 17), with combined initial involvement of the arm and neck in 3 patients. The period from the onset of the disease to the maximum severity lasted 8.2 years (range from 4 to 14), resulting in segmental brachial dystonia in 3, hemidystonia and generalized dystonia in one patient each (Table 1). The adverse perinatal events are described in Table 2. Three of our patients had delayed achievements of developmental milestones. All patients were regularly schooled and had preserved intellectual capacities, except the patient 3 whose achievements were below average (IQ = 86). Different drugs were administered (Table 3), but moderate effects were achieved only with trihexyphenidyl in two patients (daily doses of 24 mg and 30 mg, respectively), and baclofen (80 mg p.d.) in one patient. In this study we describe 5 new patients who fulfilled the criteria for the diagnosis of delayed-onset dystonia due to perinatal asphyxia (Tables 1 and 2). We accepted the approach of Saint-Hilaire et al. to suggest a relationship between perinatal asphyxia and later occurrence of dystonia in our 5 patients. However, coincident occurrence of a primary dystonia with a static encephalopathy of childhood due to perinatal asphyxia cannot be excluded. This phenomenon of delayed appearance of dystonia was also described in other forms of static cerebral injury; i.e. stroke, head trauma or anoxic brain damage. Interestingly enough, age at the time of anoxia or brain insults seemed to be crucial for the development of dystonia: those who suffer acute brain insults during childhood or early life are more likely to develop dystonia than the older patients. Therefore, the "static" nature of encephalopathy induced by perinatal asphyxia is questionable. Finally, this study strengthens the suggestion that perinatal asphyxia can lead to delayed-onset dystonia, and, since "some of these patients closely resemble cases of idiopathic torsion dystonia, the prior occurrence of asphyxia should be used as a criterion of exclusion for that diagnosis".

Adolescent↗
PubMed1999

Dystonia in Huntington's disease: prevalence and clinical characteristics.

BACKGROUND: The prevalence and clinical characteristics of dystonia in Huntington's disease (HD) have not been formally assessed. OBJECTIVES: To study (1) the prevalence of dystonia in HD in a clinic population, (2) the clinical features of dystonia, and (3) clinical correlates of dystonia (for example, age, disease duration). METHODS: Patients with HD attending the HD Center at the New York State Psychiatric Center were administered the Unified HD Rating Scale and underwent a standardized 5.5-minute videotaped examination. Two neurologists reviewed the videotaped examination and rated the severity and constancy of dystonia, calculating a total dystonia score for each patient. RESULTS: Prevalence of dystonia of any severity was 95.2%. Twenty-four of 42 (57.1%) had dystonia in at least one body region that was moderate and present more than half of the time, and seven of 42 (16.7%) had dystonia that was severe and constant. The most prevalent types of dystonia were internal shoulder rotation (64.3%), sustained fist clenching (47.1%), excessive knee flexion (42.9%), and foot inversion (42.9%). In 37 of 42 (88.1%) patients, there were more than two types of dystonia, and in the average patient, three to four types of dystonia. The mean severity was between 1 (mild) and 2 (moderate), and the mean constancy was between 2 (present less than half of the time) and 3 (present more than half of the time). Multivariate linear regression revealed that disease duration (p = 0.0005) and taking an antidopaminergic agent (p = 0.03) were positively associated with the total dystonia score. CONCLUSIONS: The majority of patients in this HD clinic exhibited some dystonia. The dystonia was present in several body regions and manifested by a variety of movements and postures not typical of idiopathic torsion dystonia. The dystonia was not bothersome to most patients, and its severity was a function of disease duration and use of an antidopaminergic agent.

Adult↗
PubMed1998

Pathology of idiopathic dystonia: findings from genetic animal models.

Dystonia is a common movement disorder which is thought to represent a disease of the basal ganglia. However, the pathogenesis of the idiopathic dystonias, i.e. the neuroanatomic and neurochemical basis, is still a mystery. Research in dystonia is complicated by the existence of various phenotypic and genotypic subtypes of idiopathic dystonia, probably related to heterogeneous dysfunctions. In neurological diseases in which no obvious neuronal degeneration can be found, such as in idiopathic dystonia, the identification of a primary defect is difficult, because of the large number of chemically distinct, but functionally interrelated, neurotransmitter systems in the brain. The variable response to pharmacological agents in patients with idiopathic dystonia supports the notion that the underlying biochemical dysfunctions vary in the subtypes of idiopathic dystonia. Hence, in basic research it is important to clearly define the involved type of dystonia. Animal models of dystonias were described as limited. However, over the last years, there has been considerable progress in the evaluation of animal models for different types of dystonia. Apart from animal models of symptomatic dystonia, genetic animal models with inherited dystonia which occurs in the absence of pathomorphological alterations in brain and spinal cord are describe. This review will focus mainly on genetic animal models of different idiopathic dystonias and pathophysiological findings. In particular, in the case of the mutant dystonic (dt) rat, a model of generalized dystonia, and in the case of the genetically dystonic hamster (dt(sz)), a model of paroxysmal dystonic choreoathetosis has been used, as these show great promise in contributing to the identification of underlying mechanisms in idiopathic dystonias, although even a proper animal model will probably never be equivalent to a human disease. Several pathophysiological findings from animal models are in line with clinical observations in dystonic patients, indicating abnormalities not only in the basal ganglia and thalamic nuclei, but also in the cerebellum and brainstem. Through clinical studies and neurochemical data several similarities were found in the genetic animal models, although the current data indicates different defects in dystonic animals which is consistent with the notion that dystonia is a heterogenous disorder. Different supraspinal dysfunctions appear to lead to manifestation of dystonic movements and postures. In addition to increasing our understanding of the pathophysiology of idiopathic dystonia, animal models may help to improve therapeutic strategies for this movement disorder.

Animals↗
PubMed1996

Lenticular nucleus lesion in idiopathic dystonia detected by transcranial sonography.

We report the transcranial sonography (TCS) findings of the basal ganglia in 86 patients with dystonic disorders including idiopathic dystonia (facial, cervical, upper limb, and generalized dystonia), drug-induced tardive dystonia, dopa-responsive dystonia, and kinesigenic dystonia. The TCS was focused on alterations of the lenticular, caudate, raphe nuclei, and the thalamus. Seventy-five percent of patient with idiopathic cervical and 83% of those with idiopathic upper limb dystonia had a hyperechogenic lesion of the middle segment of the lenticular nucleus on the side opposite to the clinical dystonic symptoms. The ipsilateral side was also affected in 20%. In facial dystonia, only one-third of the patients revealed lenticular nucleus lesions. The mean area of the lenticular nucleus lesion opposite to the clinically affected side was 30 mm2 in cervical dystonia, 17 mm2 in upper limb dystonia, and 7.5 mm2 in facial dystonia. These lenticular abnormalities were significantly more frequent (p < 0.001) and their areas were significantly greater (p < 0.001) compared with a control group of 50 patients afflicted with radiculopathy. There was a significant correlation of the severity of symptoms with the intensity of lenticular nucleus hyperechogenicity in patients with cervical and upper limb dystonia (p < 0.05). Increased caudate nucleus echogenicity was present in 20% of patients with cervical and upper limb dystonia, mostly contralateral to the clinically affected side and raphe abnormalities were present in 7% of all patients with idiopathic dystonia. In contrast, there were no abnormalities of the lenticular nucleus or thalamus in nonidiopathic dystonias. We conclude that idiopathic dystonia is associated with lesions in the basal ganglia, particularly the lenticular nucleus, that can be visualized by TCS. An alteration of the basal ganglia matrix may be the pathologic basis of idiopathic dystonia with secondary affliction of striatopallidothalamic pathways.

Adult↗