Test Yourself — Patient 25

Friedreich's Ataxia

  1. All of the following are typically seen in Friedreich's ataxia, EXCEPT:
    • [ A ] Gluteal weakness
    • [ B ] Peripheral neuropathy
    • [ C ] Extensor plantar responses
    • [ D ] Ophthalmoplegia
    • [ E ] Limb and trunk ataxia
  2. Systemic abnormalities that frequently accompany Friedreich's ataxia include all of the following, EXCEPT:
    • [ A ] Diabetes mellitus
    • [ B ] Thyrotoxicoxis
    • [ C ] Dilated cardiomyopathy
    • [ D ] Scoliosis
    • [ E ] Pes cavus
  3. Identified causes of Friedreich's ataxia include:
    • [ A ] A slow virus infection
    • [ B ] A CAG triplet repeat expansion in the second exon of the frataxin gene
    • [ C ] Point mutations in the frataxin gene
    • [ D ] An unstable GAA repeat in the first intron of the frataxin gene
    • [ E ] C and D
    • [ F ] All of the above
  4. Regarding Friedreich's ataxia, all of the following are TRUE, EXCEPT:
    • [ A ] The defect responsible for Friedreich's ataxia causes a loss of gene function.
    • [ B ] Friedreich's ataxia follows an autosomal recessive pattern.
    • [ C ] In all triplet repeat expansion diseases the size of the expanded repeat is inversely related to age of onset and disease severity.
    • [ D ] The gene defect responsible for Friedreich's ataxia causes an additional copy of the frataxin gene to be expressed.
    • [ E ] Frataxin is thought to regulate iron homeostasis in mitochondria.
  5. All of the following cause chronic, progressive cerebellar ataxia, EXCEPT:
    • [ A ] Abetalipoproteinemia
    • [ B ] Ramsay Hunt syndrome
    • [ C ] Maple syrup urine disease
    • [ D ] Friedreich's ataxia
    • [ E ] Riley-Day syndrome

 

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