← 返回搜尋

Distal myotilinopathy

ORPHA:98911 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(8)

  • Abnormal muscle fiber myotilinHP:0030226
  • Gait disturbanceHP:0001288
  • HyporeflexiaHP:0001265
  • Pelvic girdle muscle weaknessHP:0003749
  • Peripheral neuropathyHP:0009830
  • Progressive distal muscle weaknessHP:0009063
  • Proximal muscle weaknessHP:0003701
  • Shoulder girdle muscle weaknessHP:0003547

Frequent (79-30%)(20)

  • Autophagic vacuolesHP:0003736
  • Difficulty climbing stairsHP:0003551
  • Difficulty standingHP:0003698
  • Distal amyotrophyHP:0003693
  • Distal muscle weaknessHP:0002460
  • DysarthriaHP:0001260
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • Fatty replacement of skeletal muscleHP:0012548
  • Foot dorsiflexor weaknessHP:0009027
  • Hip flexor weaknessHP:0012515
  • Hypernasal speechHP:0001611
  • Inability to walkHP:0002540
  • Increased endomysial connective tissueHP:0100297
  • Increased variability in muscle fiber diameterHP:0003557
  • Limited elbow flexionHP:0006376
  • Limited knee flexion/extensionHP:0005085
  • Loss of ability to walk in first decadeHP:0006794
  • Multiple joint contracturesHP:0002828
  • Muscle stiffnessHP:0003552

Occasional (29-5%)(9)

  • Abnormal respiratory system physiologyHP:0002795
  • CardiomyopathyHP:0001638
  • DysphagiaHP:0002015
  • Facial hypotoniaHP:0000297
  • Progressive proximal muscle weaknessHP:0009073
  • Reduced maximal inspiratory pressureHP:0012496
  • Reduced vital capacityHP:0002792
  • Respiratory failureHP:0002878
  • Respiratory insufficiencyHP:0002093