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Proximal spinal muscular atrophy

ORPHA:70 · Disease · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(2)

  • Proximal muscle weaknessHP:0003701
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(21)

  • AreflexiaHP:0001284
  • Axial muscle weaknessHP:0003327
  • Bulbar palsyHP:0001283
  • Difficulty climbing stairsHP:0003551
  • Difficulty runningHP:0009046
  • Diminished deep tendon reflexHP:0001315
  • Distal muscle weaknessHP:0002460
  • DysphagiaHP:0002015
  • FatigueHP:0012378
  • Gait disturbanceHP:0001288
  • Inability to walkHP:0002540
  • Intercostal muscle weaknessHP:0004878
  • Neonatal respiratory distressHP:0002643
  • Poor suckHP:0002033
  • Quadriceps muscle weaknessHP:0003731
  • Recurrent aspiration pneumoniaHP:0002100
  • Recurrent infections due to aspirationHP:0004891
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Tongue fasciculationsHP:0001308
  • Triceps weaknessHP:0031108
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(24)

  • Absent patellar reflexesHP:0006844
  • Atrial septal defectHP:0001631
  • ConstipationHP:0002019
  • Decreased fetal movementHP:0001558
  • Difficulty standingHP:0003698
  • Distal lower limb muscle weaknessHP:0009053
  • Distal upper limb muscle weaknessHP:0008959
  • Facial diplegiaHP:0001349
  • Flexion contractureHP:0001371
  • Gastroesophageal refluxHP:0002020
  • GastroparesisHP:0002578
  • Global developmental delayHP:0001263
  • Hip dislocationHP:0002827
  • HypotoniaHP:0001252
  • HypoventilationHP:0002791
  • Knee flexion contractureHP:0006380
  • Motor delayHP:0001270
  • Multiple joint contracturesHP:0002828
  • Neonatal hypotoniaHP:0001319
  • Poor head controlHP:0002421
  • Respiratory failureHP:0002878
  • Restrictive ventilatory defectHP:0002091
  • ScoliosisHP:0002650
  • Thoracic kyphosisHP:0002942

Very rare (<4-1%)(3)

  • BradycardiaHP:0001662
  • Elbow flexion contractureHP:0002987
  • Metabolic acidosisHP:0001942