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Plectin-related limb-girdle muscular dystrophy R17

ORPHA:254361 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(1)

  • Progressive proximal muscle weaknessHP:0009073

Frequent (79-30%)(11)

  • Axial muscle atrophyHP:0040287
  • Difficulty climbing stairsHP:0003551
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • Frequent fallsHP:0002359
  • Gowers signHP:0003391
  • Limb-girdle muscle weaknessHP:0003325
  • Loss of ambulationHP:0002505
  • Motor delayHP:0001270
  • Pelvic girdle muscle weaknessHP:0003749
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(13)

  • Achilles tendon contractureHP:0001771
  • AreflexiaHP:0001284
  • Bilateral facial palsyHP:0430025
  • Bilateral ptosisHP:0001488
  • Calf muscle hypertrophyHP:0008981
  • Delayed gross motor developmentHP:0002194
  • Distal lower limb muscle weaknessHP:0009053
  • DysphagiaHP:0002015
  • Generalized muscle weaknessHP:0003324
  • Global developmental delayHP:0001263
  • Hypernasal speechHP:0001611
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Proximal upper limb muscle hypertrophyHP:0040266

Very rare (<4-1%)(8)

  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the respiratory systemHP:0002086
  • AtelectasisHP:0100750
  • Complete right bundle branch blockHP:0011712
  • Decreased cervical spine flexion due to contractures of posterior cervical musclesHP:0004631
  • Exertional dyspneaHP:0002875
  • Pulmonary fibrosisHP:0002206
  • Unusual bronchiolitisHP:0011950

Excluded (0%)(2)

  • Abnormality of the skinHP:0000951
  • Anti-neuromuscular Junction acetylcholine receptor antibody positivityHP:0030208