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Clinical features

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There is a spectrum of disease, but most commonly the patient presents aged between 1 and 4 years with:

  • progressive motor impairment - inability to walk, secondary to weakness
  • progressive mental deterioration
  • end stage disease is associated with quadriparesis, myoclonic seizures and nystagmus

There are juvenile and adult forms of this condition where onset is much later.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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