Spinocerebellar ataxia 30; sca30

SPINOCEREBELLAR ATAXIA 30; SCA30

INHERITANCE

  • Autosomal dominant
    HEAD & NECK
    Eyes
  • Hypermetric saccades
  • Gaze-evoked nystagmus (1 patient)
    NEUROLOGIC
    Central Nervous System
  • Ataxia, gait and appendicular
  • Dysarthria
  • Hyperreflexia, lower limbs, mild
  • Cerebellar atrophy
    MISCELLANEOUS
  • Adult onset (45 to 76 years)
  • Insidious onset
  • Slow progression
  • One family has been reported (as of 4/2010)

Creation Date: Cassandra L. Kniffin : 4/20/2010
Edit History: joanna : 07/28/2011

http://omim.org/clinicalSynopsis/613371

Yet another genetic late onset ataxia.:smirk:xB