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Alpha-B crystallin-related late-onset myopathy

ORPHA:399058 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • Progressive distal muscle weaknessHP:0009063

Frequent (79-30%)(12)

  • Abnormal circulating creatine kinase activityHP:0040081
  • Accumulation of muscle fiber desminHP:0030225
  • Autophagic vacuolesHP:0003736
  • Axial muscle weaknessHP:0003327
  • EMG: myopathic abnormalitiesHP:0003458
  • Foot dorsiflexor weaknessHP:0009027
  • HyporeflexiaHP:0001265
  • Increased variability in muscle fiber diameterHP:0003557
  • Limb-girdle muscle weaknessHP:0003325
  • Muscle fiber inclusion bodiesHP:0100299
  • Neck muscle weaknessHP:0000467
  • Posterior capsular cataractHP:0100020

Occasional (29-5%)(6)

  • CardiomyopathyHP:0001638
  • Facial diplegiaHP:0001349
  • Gait disturbanceHP:0001288
  • Muscle stiffnessHP:0003552
  • Progressive proximal muscle weaknessHP:0009073
  • Respiratory insufficiency due to muscle weaknessHP:0002747