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Freidrich_ataxia:
Autosomal recessive neurodegenerative disease, the most common inhirited Ataxia.
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Pathophysiology:
trinucleotide (#GAA) expansion of the frataxin gene.
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Manifestation:
Neurological:
1- Loss of propreception and vibration sense. (degeneration of posterior cloumn tracts & dorsal root ganglion).
2- Spastic muscular weakness (degeneration of lateral corticospinal tract).
3- Degeneration of the spinocerebellar tracts ( #Ataxia)
4-
MRI: spinal cord atrophy.
Cardiac:
Hypertrophic cardiomyopathy (HCM).
Skeletal:
1- Pes cavus ( high arched foot).
2- Kyphosciliosis.
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Diagnosis:
Genetic testing.
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Source:
UWORLD Neurology (image)
https://www.genomicseducation.hee.nhs.uk/
