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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ORPHA:52430 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(9)

  • Distal muscle weaknessHP:0002460
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • HyperlordosisHP:0003307
  • Increased variability in muscle fiber diameterHP:0003557
  • Proximal muscle weaknessHP:0003701
  • Rimmed vacuolesHP:0003805
  • Ubiquitin-positive cerebral inclusion bodiesHP:0012083
  • Waddling gaitHP:0002515

Frequent (79-30%)(7)

  • Abnormality of the vertebral columnHP:0000925
  • Brain atrophyHP:0012444
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Frontotemporal dementiaHP:0002145
  • Hip painHP:0030838
  • OsteolysisHP:0002797
  • Short statureHP:0004322

Occasional (29-5%)(26)

  • Abnormal calvaria morphologyHP:0002683
  • Abnormal long bone morphologyHP:0011314
  • Abnormal motor neuron morphologyHP:0002450
  • Amyotrophic lateral sclerosisHP:0007354
  • AphasiaHP:0002381
  • Calvarial hyperostosisHP:0004490
  • CardiomyopathyHP:0001638
  • CataractHP:0000518
  • Congestive heart failureHP:0001635
  • Cranial nerve compressionHP:0001293
  • DyscalculiaHP:0002442
  • EMG: chronic denervation signsHP:0003444
  • EMG: neuropathic changesHP:0003445
  • FasciculationsHP:0002380
  • Fatty replacement of skeletal muscleHP:0012548
  • Generalized amyotrophyHP:0003700
  • Hepatic steatosisHP:0001397
  • Increased susceptibility to fracturesHP:0002659
  • Intellectual disabilityHP:0001249
  • Language impairmentHP:0002463
  • Motor axonal neuropathyHP:0007002
  • MutismHP:0002300
  • Sensory axonal neuropathyHP:0003390
  • Upper motor neuron dysfunctionHP:0002493
  • Urinary bladder sphincter dysfunctionHP:0002839
  • Weakness of muscles of respirationHP:0004347

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

  • Pathologic fractureHP:0002756