| Title | [Cardiac manifestations of Friedreich's ataxia] |
| Author(s) | Kolek M, Mrózek V, Schenk P |
| Institution | Interní oddĕlení Nemocnice ve Frýdku-Místku. kolek.martin@quick.cz |
| Source | Cas Lek Cesk 2004; 143(1):48-51. |
| MeSH | Adult
Cardiomyopathy, Hypertrophic
English Abstract
Friedreich Ataxia
Humans
Male
|
| 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. |
| Language | cze |
| Pub Type(s) | Case Reports
Journal Article
|
| PubMed ID | 15061120 |
