scholarly journals Clinical-pathomorphological correlation in patients with symptomatic dystonias

2002 ◽  
Vol 130 (5-6) ◽  
pp. 183-188
Author(s):  
Natasa Ivanovic ◽  
Marina Svetel ◽  
Dusko Kozic ◽  
Robert Semnic ◽  
Vladimir Kostic
Keyword(s):  
Degenerative Diseases ◽  
Toxic Agents ◽  
Segmental Dystonia ◽  
Lenticular Nucleus ◽  
Generalized Dystonia ◽  
Structural Lesion ◽  
Hand Dystonia ◽  
Symptomatic Dystonia ◽  
Indirect Perception ◽  
Idiopathic Dystonia

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 aetiopa-thogenesis 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.

scholarly journals Idiopathic dystonia clinical, profile of 76 brazilian patients

1992 ◽  
Vol 50 (4) ◽  
pp. 426-432 ◽  
Author(s):  
Luiz A. F. Andrade ◽  
Henrique B. Ferraz
Keyword(s):  
Age Of Onset ◽  
Spasmodic Torticollis ◽  
Adult Onset ◽  
Racial Origin ◽  
Body Distribution ◽  
Abnormal Movements ◽  
Segmental Dystonia ◽  
Generalized Dystonia ◽  
Male Patients ◽  
Idiopathic Dystonia

Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

Patient Selection Criteria for Deep Brain Stimulation for Dystonia

2020 ◽  
pp. 175-184
Author(s):  
Laura S. Surillo Dahdah ◽  
Rasheda El-Nazer ◽  
Richard B. Dewey ◽  
Padraig O’Suilleabhain ◽  
Shilpa Chitnis
Keyword(s):  
Botulinum Toxin ◽  
Patient Selection ◽  
Muscle Activation ◽  
Age At Onset ◽  
Voluntary Action ◽  
Body Distribution ◽  
Segmental Dystonia ◽  
Generalized Dystonia ◽  
Patient Selection Criteria ◽  
Botulinum Toxin Injections

Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. A recent revision now classifies dystonia into two axes: (1) clinical characteristics (age at onset, temporal pattern, body distribution, whether focal, segmental, or generalized; and associated features) and (2) etiology, whether idiopathic/genetic or secondary to other neurological/medical diseases. Pharmacological treatments for dystonia remain generally unsatisfactory and consist of various combinations of levodopa, anticholinergics, muscle-relaxing drugs as well as botulinum toxin injections in focal and segmental dystonia. Overall in outcomes are poor because of limited efficacy and the potential for significant side effects such as sedation and cognitive impairment. A humanitarian-device exemption from the Food and Drug Administration was issued for the treatment of medically refractory symptoms of generalized dystonia with the use of DBS. Bilateral GPi DBS surgery is effective for both generalized and focal dystonia including cervical dystonia and tardive dystonia. DBS may be the best available treatment for disabling symptoms of generalized, cervical, tardive, and other dystonia that have failed to respond to oral drugs and botulinum toxin injections (when applicable) as long as contractures have not developed, because in this situation, DBS will be ineffective. Rigorous patient selection and careful management of comorbidities are essential for favorable outcomes.

scholarly journals Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Chih-Hong Lee ◽  
Chin-Song Lu ◽  
Wen-Li Chuang ◽  
Tu-Hsueh Yeh ◽  
Shih-Ming Jung ◽  
...  
Keyword(s):  
Literature Review ◽  
Age Of Onset ◽  
Pantothenate Kinase ◽  
Asian Patients ◽  
Truncating Mutation ◽  
Clinical Presentations ◽  
Segmental Dystonia ◽  
Generalized Dystonia ◽  
Caucasian Patients ◽  
Iron Deposits

Objectives. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN.Methods. Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were divided into classic and atypical groups by the age of onset. We compared the data on PKAN patients of Asian and Caucasian populations.Results. We found iron deposits in the globus pallidus in our Patient 1 and a heterozygous truncating mutation (c.1408insT) in Patient 2. Literature review shows that generalized dystonia and bulbar signs are more common in classic PKAN patients, whereas segmental dystonia and tremors are more specific to atypical ones. Asian patients have less complex presentations—lower prevalence of pyramidal signs, mental impairment, and parkinsonism—than Caucasians. D378G in exon 3 is the most frequent mutation (28%) in Asians.Conclusions. Our study demonstrates that the distribution of dystonia is the major distinction between subgroups of PKAN. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screeningPANK2mutations in Asian patients.

scholarly journals Cervical dystonia: clinical and therapeutic features in 85 patients

2008 ◽  
Vol 66 (1) ◽  
pp. 15-21 ◽  
Author(s):  
Carlos Henrique F. Camargo ◽  
Hélio A.G. Teive ◽  
Nilson Becker ◽  
Maria Helena Herdoíza Baran ◽  
Rosana Hermínia Scola ◽  
...  
Keyword(s):  
Cervical Dystonia ◽  
Clinical Laboratory ◽  
Botulinum Toxin A ◽  
Previous Treatment ◽  
Tardive Dystonia ◽  
Segmental Dystonia ◽  
Abnormal Head ◽  
Generalized Dystonia ◽  
Cervical Area ◽  
Head Neck

We studied patients with cervical dystonia (CD) to determine clinical features and response to botulinum toxin A (BoNT/A). Patients were submitted to clinical, laboratory and neuroimaging evaluation. BoNT/A was injected locally in 81 patients using electromyographic guidance. Four patients who had had previous treatment were considered to be in remission. The average ages at onset of focal dystonia and segmental dystonia were greater than for generalized dystonia (p<0.0003). The severity of the abnormal head-neck movements were more severe among the patients with generalized dystonia (p<0.001). Pain in the cervical area was noted in 59 patients. It was not possible to determine the etiology of the disease in 62.3% of patients. Tardive dystonia was the most common secondary etiology. A major improvement in the motor symptoms of CD and pain was observed in patients following treatment with BoNT/A. The tardive dystonia subgroup did not respond to the treatment. Dysphagia was observed in 2.35% of the patients.

scholarly journals Role of Oxidative RNA Damage in Chronic-Degenerative Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Carmela Fimognari
Keyword(s):  
Oxidative Damage ◽  
Cell Damage ◽  
Rna Degradation ◽  
Degenerative Diseases ◽  
Aberrant Expression ◽  
Toxic Agents ◽  
Its Gene ◽  
Rna Damage ◽  
Exogenous Agents

Normal cellular metabolism and exposure to ionizing and ultraviolet radiations and exogenous agents produce reactive oxygen species (ROS). Due to their reactivity, they can interact with many critical biomolecules and induce cell damage. The reaction of ROS with free nucleobases, nucleosides, nucleotides, or oligonucleotides can generate numerous distinct modifications in nucleic acids. Oxidative damage to DNA has been widely investigated and is strongly implicated in the development of many chronic-degenerative diseases. In contrast, RNA damage is a poorly examined field in biomedical research. In this review, I discuss the importance of RNA as a target of oxidative damage and the role of oxidative damage to RNA in the pathogenesis of some chronic-degenerative diseases, such as neurological disorders, atherosclerosis, and cancer. Furthermore, I review recent evidence suggesting that RNA may be the target for toxic agents and indicating RNA degradation as a powerful tool to treat any pathology in which there is an aberrant expression of mRNA and/or its gene products.

Lenticular nucleus lesion in idiopathic dystonia detected by transcranial sonography

Neurology ◽  
1996 ◽  
Vol 47 (5) ◽  
pp. 1284-1290 ◽  
Author(s):  
M. Naumann ◽  
G. Becker ◽  
K.V. Toyka ◽  
T. Supprian ◽  
K. Reiners
Keyword(s):  
Transcranial Sonography ◽  
Lenticular Nucleus ◽  
Idiopathic Dystonia

scholarly journals Bilateral pallidotomy for generalized dystonia

2001 ◽  
Vol 59 (2B) ◽  
pp. 353-357 ◽  
Author(s):  
Hélio A. G. Teive ◽  
Daniel Simões de Sá ◽  
César Vinícius Grande ◽  
Affonso Antoniuk ◽  
Lineu Cesar Werneck
Keyword(s):  
Medical Treatment ◽  
Globus Pallidus ◽  
Pharmacological Treatment ◽  
Marked Improvement ◽  
Efficacy And Safety ◽  
Motor Seizure ◽  
Simultaneous Procedures ◽  
Generalized Dystonia ◽  
Axial Involvement ◽  
Idiopathic Dystonia

OBJECTIVE: To evaluate the efficacy and safety of bilateral pallidotomies in five patients with generalized dystonia. BACKGROUND: Generalized dystonias are frequently a therapeutic challenge, with poor responses to pharmacological treatment. GPi (globus pallidus internus) pallidotomies for Parkinson's disease ameliorate all kinds of dyskinesias/dystonia, and recent studies reported a marked improvement of refractory dystonias with this procedure. METHODS: Five patients with generalized dystonias refractory to medical treatment were selected; one posttraumatic and four idiopathic. The decision to perform bilateral procedures was based on the predominant axial involvement in these patients. Dystonia severity was assessed with the Burke-Fahn-Marsden Dystonia Scale (BFM). Simultaneous procedures were performed in all but one patient, who had a staged procedure. They were reevaluated with the same scale (BFM) by an unblinded rater at 1, 2, 3, 30, 60, 90, 120 and 180 days post-operatively. RESULTS: The four patients with idiopathic dystonia showed a progressive improvement up to three months; the patient with posttraumatic dystonia relapsed at three months. One patient had a marked improvement, being able to discontinue all the medications. A mean decrease in the BFM scores of 52,58% was noted. One patient had a trans-operative motor seizure followed by a transient hemiparesis secondary to rack hemorrhage; other was lethargic up to three days after the procedure. CONCLUSIONS: Our results show that bilateral GPi pallidotomies may be a safe and effective approach to medically refractory generalized dystonias; it can also be speculated that the posttraumatic subgroup may not benefit with this procedure.

Use of surface electromyography to assess and select patients with idiopathic dystonia for bilateral pallidal stimulation

2006 ◽  
Vol 105 (1) ◽  
pp. 21-25 ◽  
Author(s):  
Shouyan Wang ◽  
Xuguang Liu ◽  
John Yianni ◽  
Alex L. Green ◽  
Carole Joint ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Surface Electromyography ◽  
Surface Emg ◽  
Spasmodic Torticollis ◽  
Rapid Improvement ◽  
Physiological Index ◽  
Pallidal Stimulation ◽  
Generalized Dystonia ◽  
Muscle Groups ◽  
Idiopathic Dystonia

Object The object of this study was to identify a preoperative physiological index by using surface electromyography (EMG) signals that would correlate with clinical outcome in dystonic patients following bilateral pallidal stimulation. Methods In 14 patients with spasmodic torticollis, generalized dystonia, and myoclonic dystonia, surface EMG signals were recorded from the most affected muscle groups. Although the dystonia affected different body segments, the EMG signals in all patients could be decomposed into bursting and sustained components. Subsequently, a ratio of the EMG amplitude was calculated between the two components and then correlated with clinical outcome. Patients who experienced rapid improvement following bilateral pallidal stimulation had a significantly higher EMG ratio compared with those who did not. Furthermore, a significant correlation was found between the EMG ratio and clinical improvement during the 12-month period following pallidal stimulation. Conclusions The authors concluded that surface EMG studies could be used to predict the clinical outcome of and to select patients for pallidal stimulation for dystonia.

scholarly journals Cervical dystonia: about familial and sporadic cases in 88 patients

2014 ◽  
Vol 72 (2) ◽  
pp. 107-113 ◽  
Author(s):  
Carlos Henrique F. Camargo ◽  
Sarah Teixeira Camargos ◽  
Nilson Becker ◽  
Renato Puppi Munhoz ◽  
Salmo Raskin ◽  
...  
Keyword(s):  
Family History ◽  
Movement Disorders ◽  
Cervical Dystonia ◽  
Age Of Onset ◽  
The Body ◽  
Etiological Diagnosis ◽  
Familial Cases ◽  
Segmental Dystonia ◽  
Generalized Dystonia ◽  
Sporadic Cases

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.

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