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Ataxia with vitamin E deficiency

ORPHA:96 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(7)

  • Abnormal pyramidal signHP:0007256
  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • Babinski signHP:0003487
  • Decreased circulating vitamin E concentrationHP:0100513
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830

Frequent (79-30%)(14)

  • Abnormal speech patternHP:0002167
  • Cerebellar atrophyHP:0001272
  • ClumsinessHP:0002312
  • DysarthriaHP:0001260
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • Gait disturbanceHP:0001288
  • Head titubationHP:0002599
  • Impaired proprioceptionHP:0010831
  • NyctalopiaHP:0000662
  • NystagmusHP:0000639
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650
  • Sensory neuropathyHP:0000763

Occasional (29-5%)(15)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of visual evoked potentialsHP:0000649
  • ArrhythmiaHP:0011675
  • Developmental regressionHP:0002376
  • Diabetes mellitusHP:0000819
  • DystoniaHP:0001332
  • Hemiplegia/hemiparesisHP:0004374
  • HypertoniaHP:0001276
  • Hypertrophic cardiomyopathyHP:0001639
  • Mental deteriorationHP:0001268
  • Positive Romberg signHP:0002403
  • Skeletal muscle atrophyHP:0003202
  • TremorHP:0001337
  • Urinary urgencyHP:0000012
  • Visual impairmentHP:0000505

Very rare (<4-1%)(1)

  • Pigmentary retinopathyHP:0000580