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.
Highlights
Blepharospasm (BSP), oromandibular dystonia (OMD), and Meige syndrome (MS) are different movement disorders that are different but closely related
TOR1A was shown to be critical for synapse formation and for organizing connectivity in the spinal sensorimotor circuit [91]; TOR1A mutations are observed in cases of early-onset torsion dystonia [92] and have been linked to late-onset focal, segmental, and multifocal dystonia including BSP, OMD, and MS [42, 72, 73]
In silico and minigene analyses indicated that c.71+9C>A alters THAP1 splicing and this variant is a risk factor [67]. c.-40T>C was identified in two BSP patients in two publications, the potential effect of this nucleotide alteration on THAP1 mRNA stability or the binding site alteration for regulatory proteins and miRNA [64, 69]. c.-42C>T of THAP1 was found in one BSP patient, which is a 5′ UTR variant which could exert effects on splicing fidelity or expression levels [68]. p.N75I and p.H150F mutations were identified in two BSP patients and these two variants did not change RNA expression, the further functional study is needed [70]
Summary
Blepharospasm (BSP), oromandibular dystonia (OMD), and Meige syndrome (MS) are different movement disorders that are different but closely related. TOR1A was shown to be critical for synapse formation and for organizing connectivity in the spinal sensorimotor circuit [91]; TOR1A mutations are observed in cases of early-onset torsion dystonia [92] and have been linked to late-onset focal, segmental, and multifocal dystonia including BSP, OMD, and MS [42, 72, 73]. TOR1A mutations were investigated in BSP and OMD patients in four publications [42, 72,73,74].
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