Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy
Abstract
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. 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. 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.
Related Papers
- → Characterizing the face in facioscapulohumeral muscular dystrophy(2020)21 cited
- → Pure dysarthria, isolated facial paresis, or dysarthria-facial paresis syndrome.(1994)55 cited
- → Isolated dysarthria-facial paresis syndrome: A rare clinical entity which is usually overlooked(2005)3 cited
- A patient with ataxia with a normal brain CT on admission.(2008)
- → Dysarthria-facial paresis syndrome due to long insular artery infarction(2022)