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Dr. Anand Saggar

Dr. Anand Saggar - MBBS, CCST, FRCP

Medical Genetic Specialist

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07970 886663

Friedreich ataxia

Friedreich ataxia is an autosomal recessive disorder and is the most common inherited ataxia.  The dorsal root ganglia, dorsal columns, corticospinal tracts and heart are predominantly affected.

Epidemiology

  • Incidence: 1/30 000-1/50 000
  • Gender: Male = Female

Clinical Presentation

  • A slowly progressive ataxia
  • Mean age of onset 10-15 years
  • May present in adulthood with milder disease

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Physical Signs

  • Dysarthria
  • Spasticity in lower limbs
  • Muscle weakness
  • Absent/ reduced lower limb reflexes with extensor plantars
  • Reduction/ loss of vibration sense and proprioception (dorsal columns)
  • Progressive gait and limb ataxia
  • Pes cavus
  • Scoliosis
  • Optic nerve atrophy
  • Evidence of cardiomyopathy

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Complications

  • Average age of death is <40 years, most commonly due to cardiomyopathy.
  • Diabetes mellitus (30%)

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