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GTR Home > Tests > Spinocerebellar ataxia type 3

Indication

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

Clinical summary

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Imported from GeneReviews

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Ptosis
  • Cerebellar ataxia
  • Dysphagia
  • Diplopia
  • Dysarthria
  • Abnormal autonomic nervous system physiology
  • Dystonic disorder
  • Proptosis
  • Fasciculations
  • Gliosis
  • Rigidity
  • Spasticity
  • Babinski sign
  • Muscle spasm
  • Chronic pain
  • Abnormal electrooculogram
  • External ophthalmoplegia
  • Bradykinesia
  • Abnormality of extrapyramidal motor function
  • Parkinsonism
  • Gaze-evoked nystagmus
  • Progressive cerebellar ataxia
  • Truncal ataxia
  • Dementia
  • Absent Achilles reflex
  • Cerebellar atrophy
  • Limb ataxia
  • Impaired vibratory sensation
  • Supranuclear ophthalmoplegia
  • Dysmetric saccades
  • Urinary bladder sphincter dysfunction
  • Postural instability
  • Dilated fourth ventricle
  • Distal amyotrophy
  • Facial-lingual fasciculations
  • Spinocerebellar tract degeneration
  • Impaired horizontal smooth pursuit
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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