Infantile neuroaxonal dystrophy

  • Autosomal recessive inheritance (PLA2G6 gene)


  • Development of swellings (spheroid bodies) in the axons
  • Cerebellar damage
  • Abnormal amounts of iron accumulate in basal ganglia

Clinical features

Progressive difficulties with movement:

  • Weak and “floppy” (hypotonic) muscles → stiff (spastic) muscles → Lose the ability to move independently

Other features:

  • Nystagmus (rapid, involuntary eye movements)
  • Strabismus (eyes that do not look in the same direction)
  • Vision loss (due to optic nerve atrophy)
  • Hearing loss
  • Dementia (progressive deterioration of cognitive functions)
    • Eventually, lose awareness of their surroundings


  • Lack of muscle strength:
    • Difficulty with feeding
    • Breathing problems → frequent infections (eg. pneumonia)
  • Seizures


  • Relieving dystonia:
    • Baclofen
    • Physiotherapeutic treatment
  • Prevent aspirational pneumonia:
    • Gastric feeding tube
    • Tracheostomy

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