Cardiomyopathy in Friedreich ataxia: exemplifying the challenges faced by cardiologists in the management of rare diseases.

Cardiomyopathy in Friedreich’s Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases

Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia

Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...

جهش جدید هموپلاسمیک T4216C میتوکندریایی در افراد ایرانی مبتلا به بیماری فردریش اتاکسیا

Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein. Frataxin deficiency leads to excessive free radical production and dysfunction of respiratory chain complexes. Mitochondrial DNA (mtDNA) could be considered as a c...

Anaesthetic management of vaginal delivery in a woman with Friedreich's ataxia complicated by cardiomyopathy and scoliosis.

We report the anaesthetic management of vaginal delivery in a woman with Friedreich's ataxia, who had hypertrophic cardiomyopathy and had previously undergone thoracic spinal fusion with Harrington rod fixation. Combined spinal-epidural analgesia was used. Options for the anaesthetic management of labour and delivery are discussed.

Cardiomyopathy in Friedreich ataxia: clinical findings and research.

Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger ribonucleic acid for frataxin. Frataxin is an iron-binding protein targeted to the mitochondrial matrix. In its absence, multiple iron-sulfur-dependent prot...