Bilateral Vocal Fold Paralysis in a Patient With Congenital MYOD1 Myopathy.
Ear Nose Throat J
; : 1455613231185031, 2023 Jul 11.
Article
em En
| MEDLINE
| ID: mdl-37431717
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.
Texto completo:
1
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article