title: Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
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.
authors.affiliation: a Department of Ophthalmology and Visual Sciences , University of Alberta , Edmonton , Alberta , Canada.
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Benson
authors.affiliation: b Division of Medical Genetics , Alberta Children's Hospital , Calgary , Alberta , Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Ferreira
authors.affiliation: a Department of Ophthalmology and Visual Sciences , University of Alberta , Edmonton , Alberta , Canada.
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology; D001259:Ataxia / Q000150:complications* / Q000175:diagnosis; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis; D055952:Cogan Syndrome / Q000175:diagnosis / Q000209:etiology*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult
keywords: DNAJC19; Dilated cardiomyopathy with ataxia syndrome; mitochondria; oculomotor apraxia