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A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis(14 patients),other focal cranial dystonias(16 patients),and writer's cramp(10 patients).Nine relatives with dystonia were identified in 6 families;8 of these had symptoms such as clumsiness or tremor,but none were aware of any dystonia.A further 4 relatives,now deceased,were affected by history. Overall,25%of index patients had relatives with dystonia.The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom,and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity. |
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dystonia
dystonia,cervical
dystonia,face
dystonia,focal
genetic neurologic disorders
torticollis
writers cramp
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