نتایج جستجو برای: dyt6 dystonia

تعداد نتایج: 6616  

Journal: :Brain : a journal of neurology 2013
Maja Kojovic Isabel Pareés Panagiotis Kassavetis Francisco J Palomar Pablo Mir James T Teo Carla Cordivari John C Rothwell Kailash P Bhatia Mark J Edwards

Primary dystonia is thought to be a disorder of the basal ganglia because the symptoms resemble those of patients who have anatomical lesions in the same regions of the brain (secondary dystonia). However, these two groups of patients respond differently to therapy suggesting differences in pathophysiological mechanisms. Pathophysiological deficits in primary dystonia are well characterized and...

Journal: :medical journal of islamic republic of iran 0
shahnaz miri state university of new york, downstate medical center, department of neurology, brooklyn, ny 11203, usa.سازمان اصلی تایید شده: 0 دانشگاه های خارج از کشور esmaeil ghoreyshi iran university of medical sciences, department of neurology, rasool-akram hospital, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences) gholam ali shahidi iran university of medical sciences, department of neurology, rasool-akram hospital, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences) mansour parvaresh iran university of medical sciences, department of neurosurgery, rasool-akram hospital, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences) mohammad rohani iran university of medical sciences, department of neurology, rasool-akram hospital, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences) mehdi saffari iran university of medical sciences, department of neurology, rasool-akram hospital, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences)

background : deep brain stimulation (dbs) of the globuspallidusinternus (gpi) is recommended as a promising technique for the management of the primary generalized dystonia (pgd) with dyt1 gene mutation. we present the first report of dbs results in iranian patients with dyt1 positive pgd.   methods : nine patients who suffered from severely disabling dyt1 positive pgd consecutively were recrui...

Journal: :Movement disorders : official journal of the Movement Disorder Society 2012
Thomas D Steeves Lundy Day Jonathan Dykeman Nathalie Jette Tamara Pringsheim

Dystonia is a hyperkinetic movement disorder characterized by sustained muscle contractions that produce repetitive movements and abnormal postures. Specific information on the prevalence of dystonia has been difficult to establish because the existing epidemiological studies of the condition have adopted different methodologies for case ascertainment, resulting in widely differing reported pre...

Journal: :Archives of neurology 2004
Davide Martino Maria S Aniello Gianluca Masi Paolo Lamberti Valeria Lucchese Simona Lamberti Paolo Livrea Alfredo Berardelli Giovanni Defazio

BACKGROUND To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia. OBJECTIVE To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives. PARTICIPANTS Seventy probands with primary adult-onset dystonia were ...

Journal: :Frontiers in veterinary science 2015
Angelika Richter Melanie Hamann Jörg Wissel Holger A. Volk

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of h...

Journal: :Journal of Neurosonology and Neuroimaging 2023

Muscle ultrasound (MUS) is increasingly used by neurologists, neuropediatricians, neurosurgeons, specialized radiologists and anaesthesiologists for the imaging-supported diagnosis of neuromuscular disorders. Especially, MUS highly sensitive in detecting fasciculations motor neuron diseases, revealing intensive care unit acquired weakness. Hereditary inflammatory myopathies are associated with ...

Journal: :Parkinsonism & related disorders 2017
K Amande M Pauls Joachim K Krauss Constanze E Kämpfer Andrea A Kühn Christoph Schrader Martin Südmeyer Niels Allert Rainer Benecke Christian Blahak Jana K Boller Gereon R Fink Wolfgang Fogel Thomas Liebig Faycal El Majdoub Philipp Mahlknecht Josef Kessler Joerg Mueller Juergen Voges Matthias Wittstock Alexander Wolters Mohammad Maarouf Elena Moro Jens Volkmann Kailash P Bhatia Lars Timmermann

INTRODUCTION Pallidal deep brain stimulation (GPi-DBS) is an effective therapy for isolated dystonia, but 10-20% of patients show improvement below 25-30%. We here investigated causes of insufficient response to GPi-DBS in isolated dystonia in a cross-sectional study. METHODS Patients with isolated dystonia at time of surgery, and <30% improvement on the Burke-Fahn-Marsden dystonia-rating-sca...

Journal: :Arquivos de neuro-psiquiatria 2011
André L Costa Lidiane S Campos Marcondes C França Anelyssa D'Abreu

UNLABELLED Temporomandibular disorders are a set of musculoskeletal dysfunctions within the masticatory system, with multiple etiologies. OBJECTIVE Since craniocervical dystonia can involve the same neuromuscular structure as the temporomandibular joint, we sought to assess the correlation between temporomandibular disorders and craniocervical dystonia. METHOD We applied the Research Diagno...

Journal: :Annals of the Academy of Medicine, Singapore 2010
Sam S Y Yang Raymond C S Seet Erle C H Lim

Dear Editor, Dystonia is a movement disorder characterised by sustained muscle contractions, repetitive twisting movements, and abnormal postures of the trunk, neck, face, or arms and legs.1 Classifi cation of this condition may be based on topography, age at onset, cause, or by the presence of genetic markers.1 When unaccompanied by other neurologic abnormalities, and in the absence of known c...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1995
A E Lang

OBJECTIVE To review the clinical characteristics and associated features found in patients with psychogenic dystonia. METHODS A 10 year retrospective chart review of all patients diagnosed by the author as having psychogenic dystonia. RESULTS Eighteen patients fulfilled diagnostic criteria for "Documented" or "Clinically Established" psychogenic dystonia. Clinical characteristics of the dys...

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