Autosomal recessive, excessive number of trinucleotide repeats
Cerebellar dysfunction starts between 5-15 yo, and progreeively gets worse until most patients are wheel chair bound by age 25, and dead by 30-35 years old
MCC of death are cardiomyopathy and respiratory complications
History / PE:
Neurologic (ataxia, dysarthria)
Skeletal (scoliosis, feet deformities)
Cardaic (concentric hypertrophic cardiomyopathy)
Areflexia
Loss of vibration and position sense
Diagnosis:
Necrosis and degeneration of cardiac muscle fibers leads to myocarditis, myocardial fibrosis and cardiomyopathy
