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Typical nemaline myopathy

ORPHA:171436 · Disease · Disorder

HPO 表現型（共 39 項）

Frequent (79-30%)(13)

  • Axial muscle weaknessHP:0003327
  • Facial palsyHP:0010628
  • Fatigable weakness of distal limb musclesHP:0030198
  • Foot dorsiflexor weaknessHP:0009027
  • Gait disturbanceHP:0001288
  • High palateHP:0000218
  • HyporeflexiaHP:0001265
  • Increased variability in muscle fiber diameterHP:0003557
  • Limb-girdle muscle weaknessHP:0003325
  • Neck flexor weaknessHP:0003722
  • Neonatal hypotoniaHP:0001319
  • Respiratory insufficiencyHP:0002093
  • Type 1 muscle fiber predominanceHP:0003803

Occasional (29-5%)(25)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Elevated circulating creatine kinase activityHP:0003236
  • Facial diplegiaHP:0001349
  • Fatigable weakness of respiratory musclesHP:0030196
  • Fatiguable weakness of proximal limb musclesHP:0030200
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • Genu valgumHP:0002857
  • Genu varumHP:0002970
  • Hip dislocationHP:0002827
  • HyperlordosisHP:0003307
  • HypokinesiaHP:0002375
  • MicrognathiaHP:0000347
  • MyopathyHP:0003198
  • Narrow chestHP:0000774
  • Narrow faceHP:0000275
  • Nemaline bodiesHP:0003798
  • Nocturnal hypoventilationHP:0002877
  • Pectus excavatumHP:0000767
  • PolyhydramniosHP:0001561
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Spinal rigidityHP:0003306
  • Waddling gaitHP:0002515

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

  • KyphosisHP:0002808