Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update

• Published in: Frontiers in neurology Vol. 12; p. 630221
• Main Authors: Ma, Hongying, Qu, Jian, Ye, Liangjun, Shu, Yi, Qu, Qiang
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 29.03.2021
• Subjects: blepharospasm; Meige syndrome; Neurology; oromandibular dystonia; pathogenic gene; variants; oromandibular dystonia; variants; blepharospasm; Meige syndrome; pathogenic gene
• ISSN: 1664-2295; 1664-2295
• DOI: 10.3389/fneur.2021.630221

Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). The etiology and pathogenesis of this disorder of the extrapyramidal system are not well-understood. Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and often resulting in misdiagnosis. A small proportion of patients have a family history of the disease, but to date no causative genes have been identified to date and no cure is available, although botulinum toxin A therapy effectively mitigates the symptoms and deep brain stimulation is gaining increasing attention as a viable alternative treatment option. Here we review the history and progress of research on MS, BSP, and OMD, as well as the etiology, pathology, diagnosis, and treatment.