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FLNC-related handgrip and calf weakness-distal myopathy

ORPHA:63273 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(5)

  • Exercise-induced myalgiaHP:0003738
  • Gait disturbanceHP:0001288
  • Hyporeflexia of lower limbsHP:0002600
  • Inability to walkHP:0002540
  • Intrinsic hand muscle atrophyHP:0008954

Frequent (79-30%)(7)

  • Difficulty runningHP:0009046
  • Distal lower limb muscle weaknessHP:0009053
  • Finger flexor weaknessHP:0031177
  • Foot dorsiflexor weaknessHP:0009027
  • Gait imbalanceHP:0002141
  • Hip flexor weaknessHP:0012515
  • Limited knee flexionHP:0006389

Occasional (29-5%)(7)

  • Abnormality of the cardiovascular systemHP:0001626
  • CardiomyopathyHP:0001638
  • Decreased finger mobilityHP:0006135
  • Distal upper limb muscle weaknessHP:0008959
  • Fatiguable weakness of proximal limb musclesHP:0030200
  • Proximal lower limb muscle weaknessHP:0008994
  • Weakness of facial musculatureHP:0030319

Excluded (0%)(3)

  • DysphagiaHP:0002015
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Somatic sensory dysfunctionHP:0003474