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GTR Home > Tests > Huntington Disease (HD) Mutation by PCR

Indication

This is a clinical test intended for Help: Diagnosis, Pre-symptomatic

Clinical summary

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Imported from GeneReviews

Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years, and the median survival time is 15 to 18 years after onset.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Chorea
  • Depression
  • Gliosis
  • Rigidity
  • Seizure
  • Hyperreflexia
  • Bradykinesia
  • Personality changes
  • Abnormality of eye movement
  • Dementia
  • Cerebellar atrophy
  • Gait ataxia
  • Neuronal loss in central nervous system
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Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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adult symptomatic individuals; adults with family history of HD

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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