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Familial or sporadic hemiplegic migraine

ORPHA:569 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(6)

  • Abnormal speech patternHP:0002167
  • EEG abnormalityHP:0002353
  • Focal motor seizureHP:0011153
  • Focal sensory seizureHP:0011157
  • Migraine with auraHP:0002077
  • Muscle weaknessHP:0001324

Frequent (79-30%)(23)

  • Cerebral edemaHP:0002181
  • Complex febrile seizureHP:0011172
  • ConfusionHP:0001289
  • CSF lymphocytic pleiocytosisHP:0200149
  • CSF pleocytosisHP:0012229
  • DiplopiaHP:0000651
  • Dissociated sensory lossHP:0010835
  • DysarthriaHP:0001260
  • Facial ticsHP:0011468
  • Focal manual automatism seizureHP:0032900
  • Focal pedal automatism seizureHP:0032901
  • Hearing impairmentHP:0000365
  • HemiparesisHP:0001269
  • Increased CSF protein concentrationHP:0002922
  • Involuntary movementsHP:0004305
  • MetamorphopsiaHP:0012508
  • ParesthesiaHP:0003401
  • PhotopsiaHP:0030786
  • Postural instabilityHP:0002172
  • Progressive gait ataxiaHP:0007240
  • ScotomaHP:0000575
  • Tongue fasciculationsHP:0001308
  • VertigoHP:0002321

Occasional (29-5%)(17)

  • Alien limb phenomenonHP:0032506
  • AphasiaHP:0002381
  • Cerebellar atrophyHP:0001272
  • ComaHP:0001259
  • Decreased vigilanceHP:0032044
  • Distal upper limb muscle weaknessHP:0008959
  • EEG with generalized sharp slow wavesHP:0011199
  • Facial paralysisHP:0007209
  • Gaze-evoked horizontal nystagmusHP:0007979
  • HemiplegiaHP:0002301
  • Impaired temperature sensationHP:0010829
  • Language impairmentHP:0002463
  • Nuchal rigidityHP:0031179
  • Seesaw nystagmusHP:0012044
  • Spontaneous pain sensationHP:0010833
  • TinnitusHP:0000360
  • Vertical nystagmusHP:0010544

Very rare (<4-1%)(5)

  • Amaurosis fugaxHP:0100576
  • EEG with focal sharp wavesHP:0011196
  • First dorsal interossei muscle weaknessHP:0003392
  • Intellectual disabilityHP:0001249
  • Status epilepticusHP:0002133