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Autosomal spastic paraplegia type 58

ORPHA:397946 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(7)

  • Abnormal cerebral white matter morphologyHP:0002500
  • DysarthriaHP:0001260
  • FasciculationsHP:0002380
  • Gait ataxiaHP:0002066
  • HypodontiaHP:0000668
  • Lower limb hyperreflexiaHP:0002395
  • Spastic ataxiaHP:0002497

Frequent (79-30%)(14)

  • Babinski signHP:0003487
  • ChoreaHP:0002072
  • ClonusHP:0002169
  • Distal amyotrophyHP:0003693
  • DysmetriaHP:0001310
  • Erratic myoclonusHP:0025357
  • Frequent fallsHP:0002359
  • Horizontal nystagmusHP:0000666
  • MicrocephalyHP:0000252
  • Peripheral demyelinationHP:0011096
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • TitubationHP:0030187
  • TremorHP:0001337

Occasional (29-5%)(7)

  • Abnormal pyramidal signHP:0007256
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Intention tremorHP:0002080
  • Mild intellectual disabilityHP:0001256
  • Tip-toe gaitHP:0030051
  • Unsteady gaitHP:0002317

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

  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Peripheral neuropathyHP:0009830
  • Reduced visual acuityHP:0007663
  • TorticollisHP:0000473