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Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

ORPHA:2590 · Disease · Disorder

HPO 表現型（共 33 項）

Obligate (100%)(1)

  • SeizureHP:0001250

Very frequent (99-80%)(5)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal lower motor neuron morphologyHP:0002366
  • Functional motor deficitHP:0004302
  • Lower limb muscle weaknessHP:0007340
  • MyoclonusHP:0001336

Frequent (79-30%)(10)

  • Atonic seizureHP:0010819
  • Atypical behaviorHP:0000708
  • ClumsinessHP:0002312
  • Frequent fallsHP:0002359
  • Gait disturbanceHP:0001288
  • Generalized myoclonic seizureHP:0002123
  • Recurrent aspiration pneumoniaHP:0002100
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • TremorHP:0001337
  • Typical absence seizureHP:0011147

Occasional (29-5%)(11)

  • Bilateral tonic-clonic seizure with generalized onsetHP:0025190
  • Eyelid myoclonusHP:0025097
  • High-frequency sensorineural hearing impairmentHP:0001757
  • Inability to walkHP:0002540
  • Limb myoclonusHP:0045084
  • Mental deteriorationHP:0001268
  • Myoclonic status epilepticusHP:0032667
  • Respiratory failureHP:0002878
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Waddling gaitHP:0002515

Very rare (<4-1%)(2)

  • DysphagiaHP:0002015
  • Intellectual disabilityHP:0001249

Excluded (0%)(4)

  • Flexion contractureHP:0001371
  • HepatosplenomegalyHP:0001433
  • Hoarse voiceHP:0001609
  • Skin noduleHP:0200036