Bilateral Vocal Fold Paralysis in a Patient With Congenital MYOD1 Myopathy.
Connie MaAnkita PatroJason S ParkPublished in: Ear, nose, & throat journal (2023)
Congenital bilateral vocal fold paralysis (BVFP) is a rare but significant cause of morbidity in pediatric otolaryngology. The differential diagnosis is expansive, with common etiologies including birth trauma, brainstem neoplasms, and neurologic disorders. There are few known genetic causes of the condition. This report details the first known case of BVFP secondary to a genetic deficiency in MYOD1, a master transcriptional regulator of skeletal muscle cell specification. Genetics consultation and testing may be a useful adjunct in the workup of congenital BVFP and may help guide prognostication, additional workup, counseling, and clinical decision-making.
Keyphrases
- skeletal muscle
- case report
- decision making
- genome wide
- transcription factor
- palliative care
- copy number
- gene expression
- cell therapy
- late onset
- stem cells
- type diabetes
- young adults
- dna methylation
- hepatitis c virus
- early onset
- mesenchymal stem cells
- hiv testing
- oxidative stress
- cell fate
- heat shock
- preterm birth
- pregnancy outcomes