Summary of Friedreich's ataxia
Flashcards on Friedreich's ataxia
The treatment for Friedreich ataxia includes treatment for heart failure, heart arrhythmias, and diabetes mellitus, and (have/have not) been shown to alter the course of the disease.
Questions on Friedreich's ataxia
A 12-year-old boy comes to the office with his parents because he has started stumbling and tripping lately. He is thinking about quitting his soccer team since he is embarrassed by his frequent falls when his legs sometimes “give out” under him. He was diagnosed with scoliosis by his school nurse last month. During his workup, an ECG shows hypertrophic cardiomyopathy and an ECHO is ordered. Which of the following is the most likely genetic abnormality underlying his condition?