FRIEDREICH ATAXIA
FRIEDREICH ATAXIA
Friedreich Ataxia is a recessive genetic demyelinating condition of the spinal cord. It affects the spinocerebellar tract (ataxia), dorsal columns (loss of vibration and proprioception), lateral corticospinal tracts (spastic paralysis), and dorsal root ganglia (hyporeflexia).
Why does demyelination occur?
A genetic mutation (trinucleotide repetition of GAA) encoding frataxin that causes mitochondrial impairment.
Anything else to know?
Other symptoms include scoliosis, hypertrophic cardiomyopathy (fatal) and diabetes! These are high yield! Weird!