title: [Cardiac manifestations of Friedreich's ataxia].
abstract: Friedreich's ataxia is one of the most frequent ataxias of childhood. The disease is inherited in autosomal recessive mode. It is caused by deficiency of mitochondrial protein frataxin, which is responsible for the degenerative impairment of the spinocerebellar and corticospinal tracts and posterior columns of the spinal cord and for the heart damage. We present a case report of a patient with a complete clinical syndrome. Patient experienced slowly progressive neurological symptomatology from the age of 6 years, which consisted of instability, gait abnormalities, tremor and ataxia. Adult patient became immobile with severe quadruparesis and dysarthria. Cardiac involvement presented in adulthood with multifocal atrial tachycardia became the chief symptom. Hypertrophic cardiomyopathy was diagnosed. Diagnosis of Friedreich's ataxia was confirmed by genetic analysis. Pharmacotherapy with coenzyme Q10 and carnitine was introduced with effort to slow down progression of cardiac impairment. Causal treatment is still impossible.
authors.affiliation: Interní oddĕlení Nemocnice ve Frýdku-Místku. kolek.martin@quick.cz
authors.forename: M
authors.initials: M
authors.lastname: Kolek
authors.forename: V
authors.initials: V
authors.lastname: Mrózek
authors.forename: P
authors.initials: P
authors.lastname: Schenk
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000175:diagnosis; D005621:Friedreich Ataxia / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male