← 返回搜尋

Early-onset cerebellar ataxia with retained tendon reflexes

ORPHA:1177 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(1)

  • Progressive cerebellar ataxiaHP:0002073

Frequent (79-30%)(10)

  • Abnormal pyramidal signHP:0007256
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Hyperactive patellar reflexHP:0007083
  • Jerky ocular pursuit movementsHP:0008003
  • Lower limb hypertoniaHP:0006895
  • NystagmusHP:0000639
  • Progressive gait ataxiaHP:0007240
  • Somatic sensory dysfunctionHP:0003474
  • Upper limb hyperreflexiaHP:0007350

Occasional (29-5%)(9)

  • Abnormal EKGHP:0003115
  • Cognitive impairmentHP:0100543
  • Decreased/absent ankle reflexesHP:0200101
  • Generalized amyotrophyHP:0003700
  • Impaired visuospatial constructive cognitionHP:0010794
  • Lower limb muscle weaknessHP:0007340
  • Lower limb spasticityHP:0002061
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650

Excluded (0%)(4)

  • CardiomyopathyHP:0001638
  • Diabetes mellitusHP:0000819
  • Multiple skeletal anomaliesHP:0005775
  • Optic atrophyHP:0000648