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Clinical features

Authoring team

Clinical features include:

  • normal development for the first two years of life, which then begins to slow and progress to dementia
  • retinitis pigmentosa, visual loss and eventually blindness
  • fits - myoclonic jerking
  • ataxia
  • spastic weakness
  • athetosis

Ultimately there is death in late childhood.

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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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