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Disease characteristics

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 3
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses.

Associated genes

Clinical features

  • Babinski sign
  • Absent Achilles reflex
  • Dysmetric saccades
  • Truncal ataxia
  • Dysarthria
  • Urinary bladder sphincter dysfunction
  • Postural instability
  • Dilated fourth ventricle
  • Dysphagia
  • Progressive cerebellar ataxia
  • Facial-lingual fasciculations
  • Proptosis
  • Impaired horizontal smooth pursuit
  • Chronic pain
  • Ptosis
  • External ophthalmoplegia
  • Supranuclear ophthalmoplegia
  • Gaze-evoked nystagmus
  • Diplopia
  • Dementia
  • Ataxia
  • Spasticity
  • Cerebellar atrophy
  • Parkinsonism
  • Dystonia
  • Rigidity
  • Bradykinesia
  • Limb ataxia
  • Gliosis
  • Fasciculations
  • Dysautonomia
  • Impaired vibratory sensation
  • Spinocerebellar tract degeneration
  • Muscle cramps
  • Distal amyotrophy
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