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

Hongying Ma; Jian Qu; Liangjun Ye; Yi Shu; Qiang Qu

doi:10.3389/fneur.2021.630221

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

Front Neurol. 2021 Mar 29:12:630221. doi: 10.3389/fneur.2021.630221. eCollection 2021.

Authors

Hongying Ma^{1

2}, Jian Qu^{3

4}, Liangjun Ye⁵, Yi Shu⁶, Qiang Qu^{1

2}

Affiliations

¹ Department of Pharmacy, Xiangya Hospital, Central South University, Changsha, China.
² National Clinical Research Center for Geriatric Disorders, Institute for Rational and Safe Medication Practices, Xiangya Hospital, Central South University, Changsha, China.
³ Department of Pharmacy, The Second Xiangya Hospital, Central South University, Changsha, China.
⁴ Institute of Clinical Pharmacy, Central South University, Changsha, China.
⁵ Department of Pharmacy, Hunan Provincial Corps Hospital of Chinese People's Armed Police Force, Changsha, China.
⁶ Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, China.

Abstract

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.

Keywords: Meige syndrome; blepharospasm; oromandibular dystonia; pathogenic gene; variants.

Publication types

Review