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Autosomal dominant adult-onset proximal spinal muscular atrophy

ORPHA:209335 · Disease · Disorder

HPO 表現型（共 20 項）

Frequent (79-30%)(9)

  • AreflexiaHP:0001284
  • Difficulty climbing stairsHP:0003551
  • EMG: neuropathic changesHP:0003445
  • FasciculationsHP:0002380
  • FatigueHP:0012378
  • Gowers signHP:0003391
  • Loss of ambulationHP:0002505
  • Muscle spasmHP:0003394
  • Proximal amyotrophyHP:0007126

Occasional (29-5%)(10)

  • Calf muscle hypertrophyHP:0008981
  • Elevated circulating creatine kinase activityHP:0003236
  • Joint stiffnessHP:0001387
  • Lower limb muscle weaknessHP:0007340
  • MyotoniaHP:0002486
  • Shuffling gaitHP:0002362
  • TalipesHP:0001883
  • TremorHP:0001337
  • Upper limb muscle weaknessHP:0003484
  • Waddling gaitHP:0002515

Excluded (0%)(1)

  • Bulbar signsHP:0002483