User:Sujinlim86/sandbox
I want to update the cause section of spasmodic dysphonia. The exact cause of SD is still unknown, but recent studies have identified some possible pathogenic factors including epidemiological risk factors, genetic factors and neurologic factors. As the current article already explains neurologic factors, I will focus on the rest two (risk factors and genetic factors).
Cause
[edit]Although the exact cause of spasmodic dysphonia (i.e., laryngeal dystonia) is still unknown, epidemiological, genetic and neurological pathogenic factors have been proposed in recent research[1].
Epidemiological risk factors identified in several large cohort studies include[2]:
- Being female
- Being middle aged
- Having a family history of neurological diseases (e.g., tremor, dystonia, meningitis and other neurological diseases)
- Stressful events
- Upper respiratory tract infections
- Sinus and throat illnesses
- Heavy voice use
- Cervical dystonia
- Childhood measles or mumps
- Pregnancy and parturition
It has not been established whether these factors directly impact the development of spasmodic dysphonia (SD)[3], however these factors could be used to identify possible and/or at-risk patients[1].
Researchers have also explored the possibility of a genetic component to SD. Three genes have been identified that may be related to the development of focal or segmental dystonia: TUBB4A, THAP1 and TOR1A genes[1][4][5][6]. However, a recent study that examined the mutation of these three genes in 86 SD patients found that only 2.3% of the patients had novel/rare variants in THAP1 but none in TUBB4A and TOR1A. Evidence of a genetic contribution for dystonia involving the larynx is still weak and more research is needed in order to establish a causal relationship between SD and specific genes[1].
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- ^ a b c d Hintze, Justin M.; Ludlow, Christy L.; Bansberg, Stephen F.; Adler, Charles H.; Lott, David G. (2017-08-29). "Spasmodic Dysphonia: A Review. Part 1: Pathogenic Factors". Otolaryngology-Head and Neck Surgery. 157 (4): 551–557. doi:10.1177/0194599817728521.
- ^ Murry, Thomas. "Spasmodic Dysphonia: Let's Look at That Again". Journal of Voice. 28 (6): 694–699. doi:10.1016/j.jvoice.2014.03.007.
- ^ Childs, L., Rickert. S., Murry. T., Blitzer, A., & Sulica. L. (2011). "Patient perceptions of factors leading to spasmodic dysphonia: a combined clinical experience of 350 patients". Laryngoscope. 121: 2195–2198.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Balint, Bettina; Bhatia, Kailash P. "Dystonia". Current Opinion in Neurology. 27 (4): 468–476. doi:10.1097/wco.0000000000000114.
- ^ Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Björn; Lohnau, Thora; Groen, Justus (2013-04-01). "Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene". Annals of Neurology. 73 (4): 537–545. doi:10.1002/ana.23829. ISSN 1531-8249.
- ^ Fuchs, Tania; Gavarini, Sophie; Saunders-Pullman, Rachel; Raymond, Deborah; Ehrlich, Michelle E; Bressman, Susan B; Ozelius, Laurie J. "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia". Nature Genetics. 41 (3): 286–288. doi:10.1038/ng.304.