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Exome

  • GTR Test IDHelp: GTR000530118.2
  • Last updated: 2021-12-08
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Spinocerebellar ataxia type 1
Offered by DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA.

Indication

This is a clinical test intended for Help: Predictive, Therapeutic management, Risk Assessment, Diagnosis, Screening, Drug Response, Prognostic

Clinical summary

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Imported from GeneReviews

Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of up-gaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Chorea
  • Dysphagia
  • Dysarthria
  • Fasciculations
  • Hypotonia
  • Spasticity
  • Nystagmus
  • Olivopontocerebellar atrophy
  • Optic atrophy
  • Paresthesia
  • Peripheral neuropathy
  • Babinski sign
  • Muscle spasm
  • Spinocerebellar atrophy
  • Muscle weakness
  • Hyperreflexia
  • Proximal muscle weakness
  • Abnormality of extrapyramidal motor function
  • Areflexia
  • Dysmetria
  • Dysdiadochokinesis
  • Scanning speech
  • Cognitive impairment
  • Progressive cerebellar ataxia
  • Distal muscle weakness
  • Truncal ataxia
  • Skeletal muscle atrophy
  • Optic disc pallor
  • Limb ataxia
  • Impaired vibratory sensation
  • Slow saccadic eye movements
  • Supranuclear ophthalmoplegia
  • Dysmetric saccades
  • Impaired pain sensation
  • Urinary bladder sphincter dysfunction
  • Dilated fourth ventricle
  • Distal amyotrophy
  • Decreased sensory nerve conduction velocity
  • Impaired proprioception
  • Generalized hypotonia
  • Decreased motor nerve conduction velocity
  • Spinocerebellar tract degeneration
  • Impaired horizontal smooth pursuit
  • Impaired distal tactile sensation
  • Decreased amplitude of sensory action potentials
  • Dorsal column degeneration
  • Bulbar palsy
  • Gaze-evoked nystagmus
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Inheritance pattern

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Autosomal dominant inheritance

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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