Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Otolaryngol Head Neck Surg. 2011 Sep;145(3):369-70. doi: 10.1177/0194599811411656. Epub 2011 Jun 2.
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.
痉挛性发音障碍是一种神经疾病，称为肌张力障碍，由喉部不自主痉挛引起，导致言语中断和声音质量变化。痉挛性发音障碍的发病机制尚不清楚。然而，已经确定了几种导致不同形式肌张力障碍的基因突变。在某些个体中，这些基因突变导致痉挛性发音障碍，既没有其他肌张力障碍的迹象，也不作为更广泛的肌张力障碍表型的一部分。因此，在不断发展的肌张力障碍遗传学领域的研究可能有助于我们了解痉挛性发音障碍的发病机制。
