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Autosomal dominant dopa-responsive dystonia

ORPHA:98808 · Disease · Disorder

HPO 表現型（共 34 項）

Frequent (79-30%)(22)

  • Abnormal substantia nigra morphologyHP:0045007
  • Abnormality of extrapyramidal motor functionHP:0002071
  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • Babinski signHP:0003487
  • Brisk reflexesHP:0001348
  • Decreased CSF homovanillic acid concentrationHP:0003785
  • DepressionHP:0000716
  • FatigueHP:0012378
  • Focal dystoniaHP:0004373
  • Gait ataxiaHP:0002066
  • Hearing impairmentHP:0000365
  • Limb dystoniaHP:0002451
  • Lower limb hyperreflexiaHP:0002395
  • ParkinsonismHP:0001300
  • Pes cavusHP:0001761
  • Postural tremorHP:0002174
  • RigidityHP:0002063
  • Sleep disturbanceHP:0002360
  • Talipes equinovarusHP:0001762
  • TorticollisHP:0000473
  • Transient hyperphenylalaninemiaHP:0008297

Occasional (29-5%)(11)

  • BradykinesiaHP:0002067
  • Compulsive behaviorsHP:0000722
  • Generalized dystoniaHP:0007325
  • Horizontal nystagmusHP:0000666
  • HypertensionHP:0000822
  • HypothyroidismHP:0000821
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Paresis of extensor muscles of the big toeHP:0002601
  • Progressive flexion contracturesHP:0005876
  • Rheumatoid arthritisHP:0001370
  • ScoliosisHP:0002650

Excluded (0%)(1)

  • Intellectual disabilityHP:0001249