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GTR Home > Tests > Spinocerebellar ataxia, autosomal recessive 1, 606002, Autosomal recessive (Spinocerebellar ataxia with axonal neuropathy type 2) (MLPA)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Chorea
  • Dysphagia
  • Dysarthria
  • Dystonic disorder
  • Nystagmus
  • Scoliosis
  • Strabismus
  • Tremor
  • Polyneuropathy
  • Abnormal pyramidal sign
  • Areflexia
  • Elevated circulating alpha-fetoprotein concentration
  • Conjunctival telangiectasia
  • Head tremor
  • Elevated circulating creatine kinase concentration
  • Distal muscle weakness
  • Hyporeflexia
  • Pes cavus
  • Cerebellar atrophy
  • Limb ataxia
  • Gait ataxia
  • Peripheral axonal neuropathy
  • Saccadic smooth pursuit
  • Progressive gait ataxia
  • Distal amyotrophy
  • Pontocerebellar atrophy
  • Impaired distal vibration sensation
  • Impaired proprioception
  • Decreased motor nerve conduction velocity
  • Reduced tendon reflexes
  • Oculomotor apraxia
  • Chronic axonal neuropathy
  • Impaired distal tactile sensation
  • Increased circulating antibody level
  • Gaze-evoked nystagmus
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Conditions tested

Target population

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Spinocerebellar ataxia, autosomal recessive 1, 606002, Autosomal recessive (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Not provided

Clinical utility

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Not provided

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