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Case Reports

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report

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Pages 88-90 | Received 21 Oct 2015, Accepted 23 Dec 2015, Published online: 07 Apr 2016
 

ABSTRACT

Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial condition associated with early onset cardiomyopathy and non-progressive ataxia. The cardiac manifestations may be progressive and often severe, resulting in significant morbidity and mortality. While optic nerve atrophy has been described in patients with DCMA, to our knowledge, there have been no reports of additional ocular phenotypes. We present two related Dariusleut Hutterite patients with documented DCMA syndrome and disorders of ocular motility: poor smooth pursuit and difficulty initiating saccadic eye movements and maintaining target fixation. We thus report the first cases of oculomotor apraxia in DCMA syndrome. By identifying these associated findings early in life, we hope to improve both the clinical diagnostic accuracy and timeliness of intervention in cases of DCMA.

Acknowledgment

The authors would like to thank Ken Dalton for his expertise with ocular photography.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

This report was supported by trust funds of the Department of Ophthalmology and Visual Sciences, University of Alberta.

Supplemental Data

Supplemental data for this article can be accessed on the publisher’s website http://dx.doi.org/10.3109/13816810.2015.1137327.

Additional information

Funding

This report was supported by trust funds of the Department of Ophthalmology and Visual Sciences, University of Alberta.

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