Consideration of genetic contributions to the risk for spasmodic dysphonia.
نویسندگان
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.
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...
متن کاملAutomatic Assessment of the Spasmodic Voice
The present work proposes automatic methods for determining the extent of dysphonia in patients with spasmodic dysphonia. Spasmodic dysphonia is a disorder of the larynx which involves involuntary contractions of the vocal folds during speech production. Numerous acoustical aspects of a voiced spasmodic speech signal which indicate the presence of these vocal spasms have been identified, includ...
متن کاملFlaring of Ala Nasi: A Reliable Diagnostic Sign for Abductor Spasmodic Dysphonia
A prospective double blinded controlled study was done to assess the relation between flaring of ala nasi and abductor spasms in abductor spasmodic dysphonia. All the 24 cases of clinically and stroboscopically proven cases of abductor spasmodic dysphonia were found to have visible and easily detectable flaring of ala nasi during the abductor spasm. Among the control group of 24 dysphonia patie...
متن کاملSpasmodic Dysphonia: Evidence concerning a Neurological Cause
The term spasmodic dysphonia is a recent one, suggested by Aronson et al. (1968b), as a replacement for the term spastic dysphonia. The new term was advocated because "the term spastic is commonly used to imply disease of ... pyramidal pathways", while the neurological evidence in the Aronson research concerned the extrapyramidal system. Further, Aronson et al. observed that "the strained voice...
متن کاملDifferential diagnosis of adductor spasmodic dysphonia and muscle tension dysphonia using acoustic parameters
Objective:The study aimed at differentiating Adductor Spasmodic Dysphonia (ADSD) from Muscle Tension Dysphonia (MTD) using acoustic measurements . Method: Perceptual as well as acoustic analysis of the voice was done on 12 patients of Adductor Spasmodic dysphonics and Muscle tension dysphonics each. The age of these patients ranged between 30 to 64 years . Results: Adductor spasmodic dysphonics...
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ورودعنوان 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