Genetics, Histo, Immuno, Physio, Pathophys

Question 0

Inheritance and mutation in Friedreich ataxia?

Answer 0

autosomal recessive

trinucleotide repeat disorder (GAA) on chromosome 9

Question 1

Teenage male with gait instability, frequent falls, kyphoscoliosis, pes cavus/high foot arches, lower-extremity ataxia? Cause of death?

Answer 1

Friedreich ataxia

hypertrophic cardiomyopathy