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Sandhoff disease, adult form

ORPHA:309169 · Clinical subtype · Subtype of disorder

HPO 表現型（共 19 項）

Obligate (100%)(1)

  • Reduced beta-hexosaminidase B activityHP:0033978

Frequent (79-30%)(9)

  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Gait ataxiaHP:0002066
  • Mental deteriorationHP:0001268
  • Proximal lower limb muscle weaknessHP:0008994
  • Sensory axonal neuropathyHP:0003390
  • SpasticityHP:0001257
  • TremorHP:0001337
  • Upper limb muscle weaknessHP:0003484

Occasional (29-5%)(9)

  • AnxietyHP:0000739
  • Diminished deep tendon reflexHP:0001315
  • DystoniaHP:0001332
  • Elevated circulating creatine kinase activityHP:0003236
  • FasciculationsHP:0002380
  • Focal dystoniaHP:0004373
  • Muscle fiber atrophyHP:0100295
  • Muscle spasmHP:0003394
  • StutteringHP:0025268