# Imaging genetics of laryngeal dystonia

> **NIH NIH R01** · MASSACHUSETTS EYE AND EAR INFIRMARY · 2022 · $611,364

## Abstract

PROJECT SUMMARY / ABSTRACT
 Laryngeal dystonia (LD), or spasmodic dysphonia, is isolated focal dystonia characterized by selective
impairment of speech production due to involuntary spasms in the laryngeal muscles. Despite well-
characterized clinical features of LD, its clinical management remains challenging due, in part, to the absence
of objective measures (biomarkers) for early detection and differential diagnosis. This results in diagnostic
inaccuracies, which have a negative impact on the patient’s quality of life and healthcare costs. Importantly,
delayed diagnosis leads to deferred treatment. The objective of this application is to conduct a series of studies
that combine advanced machine-learning with neuroimaging and genetics to (1) identify the neural markers
that accurately differentiate LD between its clinical phenotypes (adductor vs. abductor), genotypes (sporadic
vs. familial), and comorbid disorders (voice tremor and muscle tension dysphonia); (2) determine the early
predictive neural markers of LD development in at-risk individuals, and (3) validate associated LD gene
mutations. Supported by our preliminary data, our central hypothesis is that brain abnormalities are shaped, in
part, by underlying genetic factors and exhibit LD form-characteristic features, which can be used as
differential diagnostic and early predictive biomarkers of this disorder. This research is innovative both
conceptually and methodologically because it uses a cross-disciplinary approach to focus on the neural
pathophysiology and genetic susceptibility factors for LD diagnostic and predictive biomarker discovery. The
proposed research is significant because it will directly contribute to closing the critically existing gap in the
clinical management of LD. Identification of LD neural and genetic markers is expected to have a positive
translational impact by establishing enhanced criteria for accurate differential diagnosis and screening of
persons at risk. In short, the successful completion of these studies will open new horizons for the clinical
management of LD patients.

## Key facts

- **NIH application ID:** 10465004
- **Project number:** 2R01DC011805-12A1
- **Recipient organization:** MASSACHUSETTS EYE AND EAR INFIRMARY
- **Principal Investigator:** Kristina Simonyan
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $611,364
- **Award type:** 2
- **Project period:** 2012-03-19 → 2027-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10465004

## Citation

> US National Institutes of Health, RePORTER application 10465004, Imaging genetics of laryngeal dystonia (2R01DC011805-12A1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10465004. Licensed CC0.

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