A researcher at the Icahn School of Medicine at Mount Sinai has won a $5 million grant from the National Institutes of Health to investigate diagnostic biomarkers of spasmodic dysphonia, a rare neurological disorder that affects the vocal chords.
Dr. Kristina Simonyan, an associate professor of neurology and otolaryngology, is using high-resolution brain imaging and next-generation whole exome sequencing to study genetically modified differences in brain abnormalities in 240 patients with different types of spasmodic dysphonia.
Spasmodic dysphonia--also known as SD--causes muscle spasms in the larynx, making speech sound strained, uneven or breathy but without any damage to the throat. The disorder typically develops spontaneously in midlife and progresses to become a chronic condition. Scientists haven't been able to pinpoint where in the brain the disorder originates, so the causes and disease biology of SD remain unknown.
"Spasmodic dysphonia can have a terrible impact on quality of life, often causing emotional stress, social embarrassment, isolation, and even loss of employment," Simonyan said in a news release.
Currently, treatment is limited to symptomatic management of the disorder--which includes repeated injections of botulinum toxin into the vocal chord muscles. But the Botox shots don't work for all sufferers of the disorder, and some patients lose their voice completely before it improves.
To better treat the disorder, Simonyan's team is examining the central mechanisms of action of sodium oxybate, an oral medication that is already FDA-approved for narcolepsy. The team is also evaluating how people with SD perceive and process different sensory stimulations, such as lights, smells and sounds, and how these factors could affect the motor control of their speech production.
The researchers say biomarkers are needed to detect and evaluate the disease earlier and to screen people who might be at risk for developing SD.
- here's the press release