Early-Onset Facial Weakness: Evaluation and Surgical Treatment of Facioscapulohumeral Muscular Disease.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited muscular dystrophy, following Duchenne and Becker muscular dystrophy. Early-onset FSHD presents unique challenges, particularly in the context of managing early-acquired facial weakness, which significantly impacts functional and psychosocial well-being. Despite its clinical significance, the surgical outcomes of facial reanimation in this population have not been reported, and a standardized treatment protocol is lacking. This review seeks to address this gap by proposing a standardized diagnostic and management pathway for pediatric patients with early-onset FSHD presenting with facial paralysis. Our multidisciplinary diagnostic protocol includes comprehensive genetic testing, magnetic resonance imaging, and electromyography, with assessments conducted by a collaborative team comprising Pediatricians, Neurologists, Geneticists, and Ophthalmologists. We discuss surgical strategies for facial reanimation, emphasizing their critical role in preserving psychosocial health and quality of life. By consolidating current knowledge and proposing a structured approach, this review aims to serve as a reference for clinicians and surgeons, guiding improved diagnosis, management, and outcomes in early-onset FSHD.