Consideration of genetic contributions to the risk for spasmodic dysphonia.

نویسندگان

  • Nutan Sharma
  • Ramon A Franco
چکیده

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 in spasmodic dysphonia, either with no other signs of dystonia or as part of a broader dystonia phenotype. Thus, research in the growing field of dystonia genetics may help to inform our understanding of the pathogenesis of spasmodic dysphonia.

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منابع مشابه

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

OBJECTIVE Spasmodic dysphonia is a focal dystonia of the larynx with heterogeneous manifestations and association with familial risk factors. There are scarce data to allow precise understanding of etiology and pathophysiology. Screening for dystonia-causing genetic mutations has the potential to allow accurate diagnosis, inform about genotype-phenotype correlations, and allow a better understa...

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عنوان ژورنال:
  • Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery

دوره 145 3  شماره 

صفحات  -

تاریخ انتشار 2011