نتایج جستجو برای: dystonia
تعداد نتایج: 6615 فیلتر نتایج به سال:
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gen...
Spasmodic dysphonia, a form of the neurologic condition known as dystonia, results from involuntary spasms of the larynx, producing interruptions of speech and changes in voice quality. The pathogenesis of spasmodic dysphonia is not well understood. However, several genetic mutations have been identified that cause different forms of dystonia. In some individuals, these genetic mutations result...
Complex regional pain syndrome (CRPS) may lead to movement disorders (MDs) in some patients. Reliable information on the nature, chronology and clinical determinants of MDs in CRPS patients is lacking but could provide better insight in to the underlying pathophysiological mechanism. We retrospectively evaluated the clinical and temporal characteristics of MDs in patients with CRPS. Cox's propo...
Twenty-three children (aged less than 18 years) and 17 adults with severe widespread dystonia were treated with high doses of benzhexol (up to 130 mg daily introduced slowly over many weeks). Children tolerated higher doses (median 30 mg/day) than adults (median 20 mg/day). 52% of the children gained useful benefit, many (43%) without unwanted side effects. Such an approach was less successful ...
Musician's dystonia is generally considered a sporadic disorder. We present three families with the index patient affected by musician's dystonia, but other forms of upper limb focal task-specific dystonia (FTSD), mainly writer's cramp, in seven relatives. Our results suggest a genetic contribution to FTSD with phenotypic variability, including musician's dystonia.
Clinical characteristics of 15 consecutively referred patients with tardive dystonia are reported. The onset of tardive dystonia occurred in all age groups and in both sexes, with some preponderance in men. There was considerable overlap with tardive dyskinesia and tardive akathisia. Six subjects reported past acute dystonia, and four had histories of essential tremor, suggesting a vulnerabilit...
BACKGROUND Focal dystonia of acute onset is indicative of a structural lesion in the nervous system. Cerebellar lesions have rarely been associated with dystonia. CASE DESCRIPTION A 42-year-old woman was admitted to the neurology ward because of fever, confusion, and gait unsteadiness. She was diagnosed as having tuberculous meningitis, and, after a few days of antituberculous treatment, she ...
BACKGROUND Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified. METHOD We report of a three-generation family with myoclonus dysto...
Abstract Date Presented 04/02/2022 Focal task-specific dystonia is a fine motor disorder that affects professional musicians, for whom this diagnosis often career ending. This study explored musicians’ perceptions of the lived experience focal dystonia. The findings suggest client-centered and collaborative approaches to care, highlighting importance addressing emotional factors related chronic...
Abnormalities in the somatosensory system are increasingly being recognized in patients with dystonia. The aim of this study was to investigate whether sensory abnormalities are confined to the dystonic body segments or whether there is a wider involvement in patients with idiopathic dystonia. For this purpose, we recruited 20 patients, 8 had generalized, 5 had segmental dystonia with upper ext...
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