title: Consideration of genetic contributions to the risk for spasmodic dysphonia.
abstract: 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.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. nsharma@partners.org
authors.forename: Nutan
authors.initials: N
authors.lastname: Sharma
authors.forename: Ramon A
authors.initials: RA
authors.lastname: Franco
mesh_terms: D055154:Dysphonia / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011379:Prognosis; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D013035:Spasm / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human