Snapshot A 23 year old male with a past medical history of diabetes mellitus presents with muscle weakness, staggering gait with frequent falling, dysarthria and a curvature in his upper spine. On physical exam the patient is noted to have marked muscle weakness (2/5 in upper and lower extremitites), a loss of deep tendon reflexes, nystagmus as well as pes cavus and kyphoscoliosis. Patient had a recent ED visit for pneumonia and a bedside ultrasound demonstrated a hypertrophic cardiomyopathy. Introduction Congenital impairment of mitochondrial function leading to cerebellar and spinal cord degeneration Friedrichs due to a mutation in the frataxin gene which is essential for mitochondrial iron regulation Presents in childhood Autosomal recessive trinucleotide repeat disorder (GAA) on chromosome 9 Presentation Symptoms staggering gait frequent falling wheelchair bound by first decade insulin resistance dysarthria Physical exam nystagmus neurological sequelae decreased vibratory and proprioceptive senses muscle weakness loss of deep tendon reflexes musculoskeletal deformities pes cavus hammer toes kyphoscholiosis Prognosis and Complications Death in adolescence most commonly due to cardiac arrhythmia a sequlae of hypertrophic cardiomyopathy