# Deep phenotyping in blepharospasm

> **NIH NIH R01** · EMORY UNIVERSITY · 2024 · $364,194

## Abstract

PROJECT SUMMARY
The dystonias are a group of disorders characterized by excessive involuntary muscle contractions leading to
spasms and abnormal movements. Any region of the body may be affected. One of the most commonly affected
regions is the upper face, leading to blepharospasm (BL). Patients experience a number of distinct but
overlapping problems that include spasms of the muscles around the eyes, excessive blinking, eyelid fluttering,
impaired eyelid opening, and spread to the lower face or jaw. Traditionally, BL has been viewed as a relatively
homogeneous disorder, differing only in grades of severity. However, there is increasing evidence that BL is not
a homogeneous disorder. For example, recent cluster analyses including large numbers of patients have
provided evidence for phenotypically distinct subgroups. Clinically, it has been recognized for some time that
some subtypes of BL are more difficult to treat than others. There also is evidence that the core symptoms of
BL have different pathogenic mechanisms. Thus, there already is strong evidence for etiological heterogeneity.
Despite the importance of these different clinical manifestations, there are no tools for distinguishing and
measuring them. Future clinical and scientific studies of BL require more sophisticated tools to discriminate the
distinct phenotypic elements of BL. These tools are fundamental needs to improve diagnosis and treatment of
the different subtypes of BL, to monitor outcomes of clinical trials for BL, and to provide richer and more
meaningful phenotypic data in in support of studies of the pathophysiologic underpinnings of BL. The studies of
this proposal describe the development of a novel simple clinical rating scale to separately quantify the distinct
features of BL in the clinic, a novel an unobtrusive wearable device for rigorous discrimination and quantification
of these features, and preliminary characterization of potential blood-based biomarkers for the disorder.

## Key facts

- **NIH application ID:** 10932192
- **Project number:** 5R01NS119831-04
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** HYDER A JINNAH
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $364,194
- **Award type:** 5
- **Project period:** 2021-09-29 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10932192

## Citation

> US National Institutes of Health, RePORTER application 10932192, Deep phenotyping in blepharospasm (5R01NS119831-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10932192. Licensed CC0.

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