Friedreich’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 the 3 contributions to thrombosis: endothelial injury, stasis of blood fl ow, and hypercoagulability. In addition, Friedreich was also credited with Friedreich’s foot, a term used to describe a form of cavus foot. Nikolaus Friedreich recognized the main pathology of this motor and sensory ataxia as sclerosis of the spinal cord and peripheral nerves. He also discovered that the illness was hereditary and had good insight into its pathogenesis. He discovered that the onset of this disorder most often occurrs in adolescence. The presentation includes ataxia, sensory neuropathy, scoliosis, foot deformity, and cardiomyopathy (1). It is reported that FRDA affects the central and peripheral nervous systems, the heart, skeleton, and the pancreas of endocrine. While cardiomyopathy is the most common cause of death in FRDA, it is best known for its disabling neurological phenotype (1). Genetic research found the causative gene, FXN in 1996. This revelation now allows for precise diagnosis of FRDA (1).