Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient

Abstract

Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle weakness. Disease progression is usually slow, although about one-fifth of patients will require a wheelchair to accommodate mobility. Women with this muscular dystrophy could rarely have poor birth outcomes, with facioscapulohumeral muscular dystrophy symptom deterioration post-partum. In this study, we present a case of a woman with a genetically confirmed facioscapulohumeral muscular dystrophy 1 who underwent cesarean section with epidural anesthesia with favorable outcomes following the procedure. Eight months post cesarean section, the patient reported no facioscapulohumeral muscular dystrophy symptom deterioration. We reviewed the literature with emphasis on large studies concerning facioscapulohumeral muscular dystrophy and birth outcomes and concluded that the hereby presented approach is important for the comprehensive obstetric care and future risk assessment and management in such patients.