Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

Abstract

Background: Facioscapulohumeral muscular dystrophy (FSHD) is the one of the most common types of muscular dystrophy. We present a retrospective case description of a patient with late-onset, atypical FSHD and provide an overview of the clinical history, physical exam findings, diagnosis and treatment of FSHD. Main findings: A 71-year old male with subjective facial weakness and dysarthria presented initially without physical exam findings of paresis and normal diagnostic lab work. Over time, unilateral incomplete facial paresis appeared on physical exam, as well as mild scapular winging. Conclusion: FSHD classically presents with weakness in muscles of the face, shoulder/upper arms, and proximal lower extremities. Diagnosis is challenging and requires a multidisciplinary approach, due to high variability in clinical presentation and timing of symptoms. A supplementary video is provided, demonstrating unilateral midfacial and lip paresis in a 71-year-old male.

Keywords

• Facial palsy
• Facial weakness
• Facioscapulohumeal muscular dystrophy
• FSHD
• Shoulder weakness
• Winged scapula