Friedreich's Ataxia and Hypertrophic Cardiomyopathy: A Case Report and Review

Friedreich's ataxia is an autosomal recessive, spinocerebellar, degenerative disease characterized clinically by the ataxia of the limbs and trunk, dysarthria, loss of deep tendon reflexes, sensory abnormalities, skeletal deformities, diabetes mellitus, and cardiac involvement. Friedreich's ataxia is generally associated with concentric hypertrophic cardiomyopathy. Cardiac death occurs primarily in those developing dilated cardiomyopathy. These patients tend to do poorly with rapid progression to end-stage congestive heart failure.