Cardiomyopathy in Friedreich’s Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases
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Cardiomyopathy in Friedreich ataxia: exemplifying the challenges faced by cardiologists in the management of rare diseases.
Friedreich ataxia (FA) is an autosomal recessively inherited neurodegenerative disease that most often presents in childhood or in young adulthood. A substantial proportion of patients with FA also develop a cardiomyopathy that usually presents as left ventricular hypertrophy (FA-CM). The mean life expectancy is significantly reduced to 40 years, and 60% of patients with FA die from cardiac cau...
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Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
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Friedreich’s ataxia is an autosomal recessively inherited neurodegenerative disorder caused by expansions of an unstable GAA trinucleotide repeat in the STM7/X25 gene on chromosome 9q. This disease can be associated with many abnormalities: cerebellar and sensory ataxia, heart disease – aproximately two third of the patients, musculoskeletal deformities – scoliosis being the most common, diabet...
متن کاملFriedreich’s Ataxia: Literature Review and Case Presentation
Friedreich’s ataxia (FRDA) is a form of neuropathy that was fi rst described by Nikolaus Friedreich in a series of 5 papers published from 1863-1877 (1). Freidreich was a third generation physician from Heidelberg, Germany. His grandfather was the fi rst to describe idiopathic facial paralysis, also known as Bell’s palsy. Friedreich trained to be a pathologist under Rudolf Virchow, who proposed...
متن کاملDilated cardiomyopathy in Friedreich's ataxia: 2D echo and tissue-Doppler analysis of left ventricular and atrial function.
Friedreich’s ataxia (FA) is a hereditary spinocerebellar degenerative disease characterised clinically by ataxia, dysarthria, skeletal deformities, and progressive dystrophia of the skeletal muscles. The disease is frequently associated with concentric and, in some cases, eccentric hypertrophic cardiomyopathy. Presentation of a dilated cardiomyopathy with global dysfunction of the myocardium is...
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تاریخ انتشار 2012