Objective: To present a case of diaphragmatic dystonia, discuss prevalence, and a practical approach to work up and treatment of this condition.

Background: Diaphragmatic dystonia is the involuntary, sustained, or paroxysmal contraction of the diaphragm manifested as prolonged spasms. There has been minimal published literature on disorders involving respiratory dystonia over the last two decade making the prevalence largely unknown. Most publications have described a predominance of dystonia involving the muscles of the upper airway or a combination of upper airway dystonia and diaphragmatic dystonia. Little has been described of isolated diaphragmatic involvement. Common presentations include a history of dystonia and complaints of dyspnea on exertion. Evaluation may be normal, but EMG and chest fluoroscopy often help to confirm the diagnosis. Treatment and response are often varied. Ultimately, following a practical approach to diagnosis may help to elucidate prevalence of this diagnosis and help to define a collective approach to treatment.

Methods: Case record review, videotaping, and literature review.

Results: The patient is a 64y/o male that presents with eye closure and shortness of breath (SOB) for 1.5 years. The eye closure started in the R eye, but has spread to the L eye. The eye closure occurs for 15-20 sec before resolving and is increased by bright light or wind on his face. It is associated with bilateral face pulling. One year after the eye closure began he developed SOB with exertion that has progressed to occur with minimal activity. Evaluation by Pulmonology indicated no primary lung issues and normal PFTs, but did find low oxygen saturation overnight. The patient is thus using supplemental oxygen at night. ENT evaluation indicated mild bowing and compensatory laryngeal hyperfunction with muscle tension dysphonia that does not seem to account for his symptoms. It was concluded that he likely has a diaphragmatic dystonia. Botulinum toxin injections have helped with his eye closure and facial pulling (Meige syndrome). There has been no improvement in his respiratory issues with baclofen or clonazepam.

Conclusions: This patient demonstrates a unique presentation of diaphragmatic dystonia. It also highlights the need for continued publication of such patients to help potentially better understand the pathophysiology of the condition and therefore lead to better treatments.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/diaphragmatic-dystonia-in-a-patient-that-presents-with-meige-syndrome-and-disordered-breathing/