What is the most common cause of death in patients with Friedreich ataxia?

The most common cause of death in patients with Friedreich ataxia is cardiomyopathy. Friedreich ataxia is a hereditary degenerative condition that leads to progressive ataxia due to the degeneration of the spinal cord and peripheral nerves. Additionally, it is associated with various systemic complications, one of the most critical being the development of hypertrophic cardiomyopathy.

Patients with Friedreich ataxia often develop heart-related complications due to the effects of the disorder on the myocardial tissue. This condition results in symptoms such as heart failure and arrhythmias, which can ultimately lead to death. As some patients reach adulthood, the cardiomyopathy can progress and may be the direct cause of mortality.

In contrast, while respiratory failure can occur due to muscle weakness and loss of coordination affecting breathing, it is less commonly the primary cause of death compared to cardiac complications. Stroke and severe seizures are also notable concerns in the clinical management of Friedreich ataxia but are not the leading causes of mortality in these patients. Thus, cardiomyopathy remains the most significant risk factor contributing to overall mortality in individuals affected by this neurological disorder.