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Glycogen storage disease due to acid maltase deficiency

ORPHA:365 · Disease · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(4)

  • Decreased circulating acid maltase activityHP:0034932
  • Muscle weaknessHP:0001324
  • OligosacchariduriaHP:0010471
  • Progressive proximal muscle weaknessHP:0009073

Frequent (79-30%)(31)

  • AreflexiaHP:0001284
  • CamptocormiaHP:0100595
  • CardiomegalyHP:0001640
  • Delayed speech and language developmentHP:0000750
  • Difficulty climbing stairsHP:0003551
  • Elevated circulating alanine aminotransferase concentrationHP:0031964
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • Exercise intoleranceHP:0003546
  • Exertional dyspneaHP:0002875
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • Feeding difficulties in infancyHP:0008872
  • Gait disturbanceHP:0001288
  • Glycogen accumulation in muscle fiber lysosomesHP:0030231
  • Gowers signHP:0003391
  • Growth delayHP:0001510
  • Heart murmurHP:0030148
  • HepatomegalyHP:0002240
  • Hypomimic faceHP:0000338
  • HyporeflexiaHP:0001265
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Left ventricular hypertrophyHP:0001712
  • Lower limb muscle weaknessHP:0007340
  • Motor delayHP:0001270
  • MyalgiaHP:0003326
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory insufficiencyHP:0002093
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Respiratory tract infectionHP:0011947
  • Tongue fasciculationsHP:0001308

Occasional (29-5%)(32)

  • Abnormal internal carotid artery morphologyHP:3000062
  • Basilar artery calcificationHP:0031310
  • Chronic painHP:0012532
  • Cranial nerve paralysisHP:0006824
  • Diaphragmatic weaknessHP:0009113
  • Dilatation of the cerebral arteryHP:0004944
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Facial hypotoniaHP:0000297
  • Fatigable weakness of respiratory musclesHP:0030196
  • Fatigable weakness of swallowing musclesHP:0030195
  • Floppy infantHP:0008947
  • Generalized muscle weaknessHP:0003324
  • Hearing impairmentHP:0000365
  • HyperlordosisHP:0003307
  • Hypertrophic cardiomyopathyHP:0001639
  • Impaired masticationHP:0005216
  • Inability to walkHP:0002540
  • Left ventricular outflow tract obstructionHP:0032092
  • MacroglossiaHP:0000158
  • OrthopneaHP:0012764
  • OsteoporosisHP:0000939
  • PtosisHP:0000508
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • ScoliosisHP:0002650
  • Shortened PR intervalHP:0005165
  • Sleep apneaHP:0010535
  • Thoracic aortic aneurysmHP:0012727
  • Tongue muscle weaknessHP:0000183
  • Transient ischemic attackHP:0002326
  • VasculitisHP:0002633

Very rare (<4-1%)(5)

  • AtelectasisHP:0100750
  • Bowel incontinenceHP:0002607
  • Cognitive impairmentHP:0100543
  • Flexion contractureHP:0001371
  • Motor axonal neuropathyHP:0007002