# Next-generation clinical phenotyping and pathophysiology of laryngeal dystonia and voice tremor

> **NIH NIH P50** · MASSACHUSETTS EYE AND EAR INFIRMARY · 2022 · $2,365,586

## Abstract

PROJECT SUMMARY / ABSTRACT
 Laryngeal dystonia (LD) and voice tremor (VT) are hyperkinetic neurological disorders that significantly
impair voice and speech production and negatively impact the patient’s quality of life, extending beyond
speech motor alterations and often causing occupational disability and life-long social isolation. The standards
of clinical care of LD and VT are not established; that is, the differential diagnostic criteria remain vague,
leading to a high rate of misdiagnosis, whereas treatment is largely limited to temporary symptom management
with botulinum toxin injections into the affected laryngeal muscles. One of the major causes of suboptimal
clinical care of these patients is the limited understanding of their distinct clinical characteristics and neural
pathophysiology. We propose a multi-institutional, cross-disciplinary Center research program that will focus on
the delineation of unique clinical and pathophysiological features of LD and VT in order to establish the
fundamental framework for the enhanced clinical management of these disorders, including their accurate
diagnosis and disorder-specific therapies. The Center research goals will be accomplished through
collaborative clinical research studies at Massachusetts Eye and Ear Infirmary, Massachusetts General
Hospital, University of California San Francisco, and University of Utah, which will include three Center
Projects, a Scientific Core that incorporates the Clinical Research and Data Science components, and an
Administrative Core that provides an overall organizational infrastructure to the Center activities. The overall
Specific Aims of this Center will be (1) Characterization of clinical phenotypes of LD and VT; (2) Understanding
disorder-specific neural pathophysiology in LD and VT; (3) Deep brain stimulation in LD and VT, and (4)
Machine-learning platforms for differential diagnosis of LD and VT. We expect that our cross-disciplinary and
collaborative Center, encompassing the expertise in otolaryngology, speech-language pathology, neurology,
neurosurgery, brain and larynx imaging, invasive neurophysiology, and clinical neuroscience and applying
complementary multimodal methodologies across these fields, will have a significant positive impact on
developing new knowledge about the links between symptomatology and pathophysiology of LD and VT, which
will help define the new standards of enhanced clinical care of these disorders.

## Key facts

- **NIH application ID:** 10488248
- **Project number:** 5P50DC019900-02
- **Recipient organization:** MASSACHUSETTS EYE AND EAR INFIRMARY
- **Principal Investigator:** Kristina Simonyan
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $2,365,586
- **Award type:** 5
- **Project period:** 2021-09-15 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10488248

## Citation

> US National Institutes of Health, RePORTER application 10488248, Next-generation clinical phenotyping and pathophysiology of laryngeal dystonia and voice tremor (5P50DC019900-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10488248. Licensed CC0.

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