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Friedreich’s ataxia

Overview

Friedreich’s ataxia refers to an autosomal recessive condition caused by trinucleotide (GAA) mutation in Frataxin gene. It causes difficulty in walking with imbalance, speech disturbance and multiple systemic complications.

Caused by a gene defect that is inherited from both parents.

  • Family history
  • Chronic and excessive alcohol intake
  • Hypothyroidism or hypoparathyroidism
  • Multiple sclerosis
  • Celiac disease
  • Sarcoidosis
  • Cancer-triggered paraneoplastic syndrome
  • Multiple system atrophy
  • Anti-seizure sedatives and medications
  • Exposure to heavy metals (mercury or lead), or solvents (paint thinner)
  • Deficiency of vitamin E, B6, B12, or B1
  • Excess intake of vitamin B-6

  • Pyramidal weakness
  • Gait ataxia
  • Optic atrophy
  • Deafness
  • Axonal peripheral neuropathy
  • Altered eye movements- nystagmus, hypometric saccades, macrosaccadic square wave jerks, broken pursuit
  • Skeletal abnormalities: high arched foot, spinal deformities like scoliosis
  • Diabetes or glucose intolerance
  • ECG alterations: widespread T wave inversion

Neurologist

  • Clinical examination
  • Electrophysiological testing for peripheral neuropathy
  • ECG, echocardiogram
  • Blood tests for glucose levels, vitamin E levels
  • X-ray for scoliosis
  • MRI/ CT scan for brain and spinal cord
  • Genetic testing

  • Symptomatic treatment, physiotherapy, gait training
  • Surgical procedures for ankle contractures
  • Orthosis and assistive devices
  • Managing cardiac complications
  • Newer therapy: Omaveloxolone (currently not available in India)

Disclaimer:

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