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

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.

SUBMITTER: Ma H

PROVIDER: S-EPMC8039296 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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

Ma Hongying H Qu Jian J Ye Liangjun L Shu Yi Y Qu Qiang Q

Frontiers in neurology 20210329

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 ...[more]

PMID: 33854473

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