Objective: To illustrate a case of a patient presenting with oromandibular dystonia with blepharospasm (Meige syndrome) and progressing to a segmental dystonia with parkinsonism. This case will discuss the differential for this kind of progressive movement disorder.

Background: Diagnosis and treatment of dystonia can be challenging. Meige syndrome is a subtype of dystonia characterized by involuntary contractions of the muscles around the eyes (blepharospasm) and the face/jaw (oromandibular dystonia). Dystonia and parkinsonism can coexist in several hereditary, neurodegenerative, toxic, and metabolic conditions, including rapid onset dystonia-parkinsonism and X-linked recessive dystonia-parkinsonism.

Method: Mr. CB is a 37 year old man with orofacial-cervical dystonia and blepharospasm presenting within 4 months, diagnosed as Meige syndrome. He started treatment with botulinum toxin injections with a variable response. Four months later, he developed an intermittent shuffling gait, followed by left arm dystonia, and mild bradykinesia. He endorsed a history of parkinsonism in his paternal grandfather and is of Filipino descent.

Results: He was referred for a DAT scan, which was positive. CB was started on Sinemet, with improvement of his gait. The Athena complete parkinsonism panel and Invitae hereditary parkinsonism panels were sent (including ATP1A3, PARK2, SNCA, etc), all of which were negative. As CB’s condition progressed in a year, with minimal improvement from medications, his functionality declined. He underwent deep brain stimulation (DBS) surgery with bilateral lead placement in the globus pallidus interni (GPI), with significant improvement in the orofacial/segmental dystonia and parkinsonism.

Conclusion: We illustrate a case of a patient with orofacial-dystonia and blepharospasm, progressing to left arm dystonia with parkinsonism, with negative genetic testing. Lubag disease is an X-linked rapid onset dystonia with parkinsonism in patients of Filipino descent.  Genetic testing did not reveal this as a diagnosis, highlighting the need to pursue additional gene testing, including whole genome sequencing to identify an etiology.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/rapid-onset-progressive-dystonia-with-parkinsonism/