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TK2-related mitochondrial DNA maintenance defect, myopathic form

ORPHA:254875 · Disease · Disorder

HPO 表現型（共 39 項）

Obligate (100%)(1)

  • MyopathyHP:0003198

Very frequent (99-80%)(4)

  • Generalized hypotoniaHP:0001290
  • Motor deteriorationHP:0002333
  • Muscle weaknessHP:0001324
  • Respiratory insufficiencyHP:0002093

Frequent (79-30%)(20)

  • Chronic fatigueHP:0012432
  • Developmental regressionHP:0002376
  • Difficulty standingHP:0003698
  • Distal muscle weaknessHP:0002460
  • Exercise intoleranceHP:0003546
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Gait disturbanceHP:0001288
  • Generalized muscle weaknessHP:0003324
  • Generalized-onset seizureHP:0002197
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Infantile encephalopathyHP:0007105
  • Motor delayHP:0001270
  • Progressive proximal muscle weaknessHP:0009073
  • Recurrent pneumoniaHP:0006532
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(12)

  • Bilateral ptosisHP:0001488
  • Bulbar palsyHP:0001283
  • Cognitive impairmentHP:0100543
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Infantile sensorineural hearing impairmentHP:0008610
  • MyalgiaHP:0003326
  • OphthalmoparesisHP:0000597
  • Progressive external ophthalmoplegiaHP:0000590
  • Severe sensorineural hearing impairmentHP:0008625
  • Ventilator dependence with inability to weanHP:0005946
  • Weakness of facial musculatureHP:0030319

Very rare (<4-1%)(2)

  • ScoliosisHP:0002650
  • Spinal muscular atrophyHP:0007269