Friedreich’s Ataxia

Table of Contents

  1. Disorder
  2. Epidemiology
  3. Pathophysiology
  4. Risk Factors & Associations
  5. Signs & Symptoms
  6. Diagnostic Criteria
  7. Diagnostic Workup
  8. Disease Modifying Therapy (DMT)
  9. Non-DMT Treatment
  10. Followup
  11. Scales
  12. Prognosis
  13. References

  • Inheritance is AUTOSOMAL RECESSIVE

  • Gene locus: Chromosome 9q13

  • Mutation: GAA trinucleotide repeat expansion in exon 1 of the gene frataxin (involved in mitochondrial iron regulation

  • Neuropathological changes are in the spinal cord (Mild brainstem and cerebellar changes)

    • Cervical Dorsal Columns

    • Lumbar Pyramidal Tracts

    • Spinocerebellar tracts

  • Death often occurs in the fourth decade

  • Progressive Ataxia

  • Cerebellar Dysarthria

  • Lower limb areflexia

  • Impaired vibration and proprioception

  • Cardiomyopathy

  • Scoliosis

  • Pes cavus

  • Optic atrophy

  • Nystagmus

  • Deafness

  • Distal wasting

Variants

  • Early onset with retained reflexes

  • Late Onset

Pathophysiology

Risk factors & Associations

Signs & Symptoms

Diagnostic Criteria

Diagnostic Workup

  • Typical age of Onset <15yo, majority started by the age of 20yo

Disease Modifying Therapy (DMT)

Disorder

Epidemiology

Non-DMT Therapies

Followup

Scales

Prognosis

References