Table 2.

Select Features of Adolescent- or Adult-Onset SCA7

Feature% of Persons w/FeatureComment
Cerebellar ataxia 100%Unsteady gait; finger-to-nose dysmetria
Dysarthria 100%Garbled or slurred speech
Dysphagia 40%Difficulty swallowing
Oculomotor
abnormalities 		80%
  • Slowed ocular saccades
  • Ophthalmoplegia
Motor neuron
degeneration 		100%
  • Upper motor neuron involvement (hyperreflexia, spasticity); may resemble hereditary spastic paraplegia.
  • Lower motor neuron involvement (fasciculations, weakness w/muscle wasting, areflexia, distal sensory loss)
Sensory loss 40%↓ sensation to light touch, pinprick, &/or joint position
Restless leg
syndrome 		35%Discomfort in legs resulting in uncontrollable urge to move one’s legs, typically worse in evening or nighttime
Cognitive decline 20%Impaired executive function
Behavior disorder/
Psychosis 		10%
  • Altered mentation
  • Impaired reality testing
Cone-rod
dystrophy 		70%
  • Loss of central vision & color vision
  • Abnormal fundoscopic exam

From: Spinocerebellar Ataxia Type 7

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