← 返回搜尋

Synaptic congenital myasthenic syndrome

ORPHA:98915 · Etiological subtype · Subtype of disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(3)

  • EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHP:0003403
  • Generalized muscle weaknessHP:0003324
  • Proximal muscle weaknessHP:0003701

Frequent (79-30%)(23)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal synaptic transmission at the neuromuscular junctionHP:0003398
  • Bilateral ptosisHP:0001488
  • Decreased size of nerve terminalsHP:0003443
  • Distal muscle weaknessHP:0002460
  • DysphagiaHP:0002015
  • Facial palsyHP:0010628
  • Global developmental delayHP:0001263
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • MyopathyHP:0003198
  • Neck muscle weaknessHP:0000467
  • OphthalmoparesisHP:0000597
  • Poor head controlHP:0002421
  • Poor suckHP:0002033
  • Prolonged miniature endplate currentsHP:0003436
  • PtosisHP:0000508
  • Respiratory distressHP:0002098
  • Respiratory insufficiencyHP:0002093
  • Scapular wingingHP:0003691
  • Unfavorable response of muscle weakness to acetylcholine esterase inhibitorsHP:0030203
  • Waddling gaitHP:0002515
  • Weak cryHP:0001612

Occasional (29-5%)(17)

  • Abnormality of the kneeHP:0002815
  • AreflexiaHP:0001284
  • Axial muscle weaknessHP:0003327
  • Easy fatigabilityHP:0003388
  • High palateHP:0000218
  • HypoventilationHP:0002791
  • Impaired masticationHP:0005216
  • Intellectual disabilityHP:0001249
  • Limited extraocular movementsHP:0007941
  • Muscle weaknessHP:0001324
  • Neonatal respiratory distressHP:0002643
  • Recurrent lower respiratory tract infectionsHP:0002783
  • ScoliosisHP:0002650
  • Skeletal muscle atrophyHP:0003202
  • Sleep apneaHP:0010535
  • Slow pupillary light responseHP:0030211
  • Type 1 muscle fiber predominanceHP:0003803

Very rare (<4-1%)(11)

  • Abnormal facial shapeHP:0001999
  • Exertional dyspneaHP:0002875
  • Frequent fallsHP:0002359
  • Hand muscle weaknessHP:0030237
  • Limited wrist extensionHP:0006251
  • Mandibular prognathiaHP:0000303
  • Pulmonary arterial hypertensionHP:0002092
  • Right ventricular hypertrophyHP:0001667
  • Talipes equinovarusHP:0001762
  • Triangular mouthHP:0000207
  • Type 2 muscle fiber atrophyHP:0003554