• Autosomal recessive inheritance (PLA2G6 gene)

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Pathophysiology

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

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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

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Complications

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

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Management

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