نتایج جستجو برای: dyt6 dystonia

تعداد نتایج: 6616  

Journal: :Rinsho shinkeigaku = Clinical neurology 2013
Satoshi Goto Ryuji Kaji

Clinical manifestation of dystonia features involuntary muscle contraction or spasm resulting in postural and movement disorders. Depending on the distribution and spreading pattern of dystonia, four patterns have been described, including focal, segmental, multifocal and generalized dystonia. Dystonia can be seen as one of additional clinical features in a more severe neurologic condition. Mos...

Journal: :Journal of the neurological sciences 2006
Laura J C Wu Joseph Jankovic

Adult-onset focal dystonia in the upper limbs is well characterized whereas such dystonia has been rarely reported in the lower limbs, especially in proximal parts. When such focal dystonia occurs in an athlete it is often wrongly attributed to an orthopedic disorder. We present five cases, three female and two male with mean age of 44.6+/-10.43 years, mean age at onset of 37.4+/-10.33 years, a...

Journal: :Movement disorders : official journal of the Movement Disorder Society 2013
Alberto Albanese Francesca Del Sorbo Cynthia Comella H A Jinnah Jonathan W Mink Bart Post Marie Vidailhet Jens Volkmann Thomas T Warner Albert F G Leentjens Pablo Martinez-Martin Glenn T Stebbins Christopher G Goetz Anette Schrag

Many rating scales have been applied to the evaluation of dystonia, but only few have been assessed for clinimetric properties. The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the clinical and clinimetric context. A systematic literature review was conducted to identify rating scales that have either been validated or use...

2015
Vesper Fe Marie L Ramos Ajay S Pillai Codrin Lungu Jill Ostrem Philip Starr Mark Hallett

Psychogenic dystonia is a challenging entity to diagnose and treat because little is known about its pathophysiology. We describe two cases of psychogenic dystonia who underwent deep brain stimulation when thought to have organic dystonia. The intraoperative microelectrode recordings in globus pallidus internus were retrospectively compared with those of five patients with known DYT1 dystonia u...

Journal: :Medicina oral, patologia oral y cirugia bucal 2010
Laura Maestre-Ferrín Juan-Andrés Burguera María Peñarrocha-Diago Miguel Peñarrocha-Diago

Oromandibular dystonia consists of prolonged spasms of contraction of the muscles of the mouth and jaw. Primary idiopathic forms and secondary forms exist. Secondary dystonia develops due to environmental factors; some cases of cranial dystonia after dental procedure have been reported, but the causal relationship between these procedures and dystonia remains unclear. Traumatic situations in th...

2011
Hong Souk Park Eun Sook Park Jin Woo Chang Ki Seok Lee Young Joo Suh Sung-Rae Cho

Dystonia is a symptom defined by involuntary and irregular contractions of the muscles, which cause movement disorders and postural problems. Deep brain stimulation (DBS) in globus pallidus interna (GPi) is a good option for controlling dystonia. DBS has already been shown to have significant effects on primary dystonia as well as Parkinson's disease. Dystonia is very difficult to manage, as se...

2015
Takao Hashimoto Teruaki Iwahashi Wataru Ishii Kanji Yamamoto Shu-ichi Ikeda

We report on a patient with sporadic Creutzfeldt-Jakob disease (CJD) who showed dystonia, periodic myoclonus, and periodic sharp wave complexes (PSWCs) on EEG. The EEG-EMG polygraphic study revealed that dystonia appeared without relation to periodic myoclonus and PSWCs and that dystonia EMGs were strongly suppressed after periodic myoclonus EMGs. These findings suggest that dystonia has a path...

Journal: :Parkinsonism & related disorders 2014
André Lee Shinichi Furuya Masanori Morise Peter Iltis Eckart Altenmüller

INTRODUCTION Musician's dystonia is a task-specific loss of voluntary motor control of the fingers or the embouchure. In contrast to pianists' dystonia, which can be objectively assessed based on movement kinematics and muscular activities, no objective quantitative measure has been established for embouchure dystonia. METHODS We focused on acoustic signals, and investigated, whether the fluc...

Journal: :Arquivos De Neuro-psiquiatria 2023

Background: Dopa-responsive dystonia associated with mutations in the GCH1 gene (DYT5) is classically described as autosomal dominant but rare cases recessive inheritance have been reported. The (AD) form characterized by a childhood onset and predominates females. It usually starts gait disturbance foot (segmental dystonia) fluctuation of symptoms during day, parkinsonism can be present. treat...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1980
R E Burke S Fahn A P Gold

Eight cases of persistent dystonia appearing one to 14 years after non-progressive cerebral insults are described. Five were due to perinatal anoxia, one to trauma, and two to cerebral infarction. This phenomemon of delayed-onset dystonia has not been described previously, although review of earlier literature reveals several probable examples. Delayed-onset dystonia due to perinatal anoxia is ...

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