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Friedreich ataxia

ORPHA:95 · Disease · Disorder

HPO 表現型（共 53 項）

Obligate (100%)(1)

  • Gait ataxiaHP:0002066

Very frequent (99-80%)(6)

  • Babinski signHP:0003487
  • DysarthriaHP:0001260
  • Gait imbalanceHP:0002141
  • Hand muscle atrophyHP:0009130
  • Impaired proprioceptionHP:0010831
  • Limb ataxiaHP:0002070

Frequent (79-30%)(28)

  • Abnormal EKGHP:0003115
  • Abnormal foot morphologyHP:0001760
  • Abnormal saccadic eye movementsHP:0000570
  • Abnormality of central motor conductionHP:0012079
  • Abnormality of the autonomic nervous systemHP:0002270
  • AcrocyanosisHP:0001063
  • Areflexia of lower limbsHP:0002522
  • CardiomyopathyHP:0001638
  • Cervical spinal cord atrophyHP:0010873
  • ClumsinessHP:0002312
  • DysmetriaHP:0001310
  • FallsHP:0002527
  • Impaired vibratory sensationHP:0002495
  • Impaired visually enhanced vestibulo-ocular reflexHP:0030183
  • Inflammation of the large intestineHP:0002037
  • Intention tremorHP:0002080
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Pes cavusHP:0001761
  • Poor fine motor coordinationHP:0007010
  • Restless legsHP:0012452
  • ScoliosisHP:0002650
  • Sensory axonal neuropathyHP:0003390
  • Talipes equinovarusHP:0001762
  • Urinary bladder sphincter dysfunctionHP:0002839
  • Urinary urgencyHP:0000012

Occasional (29-5%)(17)

  • AnxietyHP:0000739
  • Cerebellar atrophyHP:0001272
  • Decreased motor nerve conduction velocityHP:0003431
  • DepressionHP:0000716
  • Diabetes mellitusHP:0000819
  • DysdiadochokinesisHP:0002075
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • DystoniaHP:0001332
  • Hearing impairmentHP:0000365
  • Inability to walkHP:0002540
  • Incomprehensible speechHP:0002546
  • Reduced bone mineral densityHP:0004349
  • Reduced visual acuityHP:0007663
  • Sleep apneaHP:0010535
  • SpasticityHP:0001257
  • Square-wave jerksHP:0025402

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

  • ChoreaHP:0002072