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Bilateral Vocal Fold Paralysis in a Patient With Congenital MYOD1 Myopathy

Connie Ma1, Ankita Patro1, Jason Park1

  • 1Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.

Ear, Nose, & Throat Journal
|July 11, 2023
PubMed

Insights

Congenital bilateral vocal fold paralysis (BVFP) is rare. This study reports the first case linked to a MYOD1 gene deficiency, highlighting genetics

Area of Science:

  • Pediatric Otolaryngology
  • Genetics
  • Molecular Biology

Background:

  • Congenital bilateral vocal fold paralysis (BVFP) is a rare condition causing significant morbidity in infants.
  • The differential diagnosis for BVFP is broad, including birth trauma, brainstem tumors, and neurological disorders.
  • Genetic causes of BVFP are not well-established.

Purpose of the Study:

  • To report the first known case of BVFP resulting from a genetic deficiency in MYOD1.
  • To emphasize the role of genetic testing in diagnosing and managing congenital BVFP.

Main Methods:

  • Case report detailing a patient with BVFP.
  • Genetic consultation and testing to identify the underlying cause.
  • Analysis of MYOD1 gene function as a master regulator of skeletal muscle development.

Main Results:

  • Identified a genetic deficiency in MYOD1 as the cause of BVFP in the reported case.
  • MYOD1 is a critical transcriptional regulator for skeletal muscle cell specification.

Conclusions:

  • This case establishes a novel genetic etiology for congenital BVFP.
  • Genetics consultation and testing are valuable tools for BVFP workup, prognostication, and clinical decision-making.

Keywords:
MYOD1bilateral vocal fold paralysishypotoniasuture lateralizationtracheostomy

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