Snapshot A 13-year-old male from Switzerland presents with clumsiness and constant falls. These symptoms have progressively worsened for the past 8 months. On physical examination, there is both upper and lower extremity limb ataxia and lower extremity weakness, with an absence of patellar and ankle deep tendon reflexes. The patient has a deficit on position and vibration sense, with intact pain and temperature sensation. Kyphoscoliosis is appreciated on exam. An MRI of the brain and spine is performed, which does not show cerebellar atrophy but atrophy in the spinal cord and medulla. Introduction Autosomal recessive mutation in the frataxin gene on chromosome 9 trinucleotide repeat (GAA)n frataxin is a mitochondrial protein involved in iron regulation leads to spinal cord tract degeneration e.g., posterior columns, corticospinal tracts, spinocerebellar tracts other degenerative locations dorsal root ganglia certain cerebellar cells dendate nucleus certain cranial nerves (e.g., VII, X, XII) primary motor cortex Betz cells Associations hypertrophic cardiomyopathy diabetes mellitus kyphoscoliosis Epidemiology Most common hereditary ataxia Usually presents in adolescent years Presentation Symptoms staggering gait frequent falling wheelchair bound by second decade Physical exam nystagmus dysarthria decreased vibratory and proprioceptive senses muscle weakness loss of deep tendon reflexes musculoskeletal deformities pes cavus hammer toes kyphoscholiosis Evaluation This is a clinical diagnosis with genetic confirmation MRI to exclude other causes to look for cerebellar atrophy Genetic testing for triplet repeat expansion Electrocardiogram ventricular hypertrophy inverted T waves Differential Ataxia-telangiectasia Vitamin E deficiency Refsum disease Treatment No disease-modify therapy specific for Friedreich's ataxia Multidisciplinary approach Prognosis, Prevention, and Complications Prognosis usually wheel-chair bound by 20s death by mid 30s Complications hypertrophic cardiomyopathy type 2 diabetes mellitus pes cavus