Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.

Although Friedreich ataxia (FA) is associated with cardiomyopathy, the severity and evolution of cardiac disease is poorly understood. To identify factors predicting cardiomyopathy in FA, we assessed echocardiograms from a large heterogenous cohort and their relation to disease traits. The most recent echocardiograms from 173 subjects with FA were analyzed in a core laboratory to determine their relation to disease duration, subject age, age of onset, functional disability score, and GAA repeat length.

Mortality in Friedreich ataxia.

Background: Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria.

Methods: We performed a retrospective study of FRDA patients to determine cause of death followed by a case-control analysis comparing characteristics of deceased patients with living, age- and sex-matched FRDA controls.

Results: Causes of death were cardiac dysfunction (59%), probable cardiac dysfunction (3.

Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications.

Objective: Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease. Recent medical advances have improved the average life expectancy, and as such, many female patients are contemplating pregnancy. However, little research exists exploring the medical or psychosocial complications that arise from pregnancy with this disease.

Health-related quality of life in children with Friedreich ataxia.

The use of health-related quality of life scales as outcome measures in clinical trials is increasing. Although such measures have been validated in adults with Friedreich ataxia, they have not been studied in children with this disorder. The health-related quality of life of children with Friedreich ataxia was assessed using the PedsQL 4.