TY - JOUR
T1 - Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy
AU - Wamkpah, Nneoma S.
AU - Chi, John J.
N1 - Funding Information:
Research reported in this publication was supported by the National Institute of Deafness and Other Communication Disorders within the National Institutes of Health , through the “Development of Clinician/Researchers in Academic ENT” training grant, award number 5T32DC000022-30 . The content is solely the responsibility of the authors and does not necessarily represent the official view of the National Institutes of Health.
Publisher Copyright:
© 2022 Elsevier Inc.
PY - 2022/11
Y1 - 2022/11
N2 - 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.
AB - 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.
KW - Facial palsy
KW - Facial weakness
KW - Facioscapulohumeal muscular dystrophy
KW - FSHD
KW - Shoulder weakness
KW - Winged scapula
UR - http://www.scopus.com/inward/record.url?scp=85135860791&partnerID=8YFLogxK
U2 - 10.1016/j.xocr.2022.100468
DO - 10.1016/j.xocr.2022.100468
M3 - Article
AN - SCOPUS:85135860791
VL - 25
JO - Otolaryngology Case Reports
JF - Otolaryngology Case Reports
SN - 2468-5488
M1 - 100468
ER -