← 返回搜尋

Bethlem muscular dystrophy

ORPHA:610 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(6)

  • EMG: myopathic abnormalitiesHP:0003458
  • Flexion contractureHP:0001371
  • Muscle weaknessHP:0001324
  • Muscular dystrophyHP:0003560
  • Progressive proximal muscle weaknessHP:0009073
  • Reduced muscle collagen VIHP:0030095

Frequent (79-30%)(12)

  • Ankle flexion contractureHP:0006466
  • Camptodactyly of fingerHP:0100490
  • Distal muscle weaknessHP:0002460
  • Elevated circulating creatine kinase activityHP:0003236
  • Gait disturbanceHP:0001288
  • Increased muscle lipid contentHP:0009058
  • Interphalangeal joint contracture of fingerHP:0001220
  • Limb-girdle muscle weaknessHP:0003325
  • Multiple joint contracturesHP:0002828
  • Neck muscle weaknessHP:0000467
  • Quadriceps muscle weaknessHP:0003731
  • Wrist flexion contractureHP:0001239

Occasional (29-5%)(20)

  • Abnormality of the respiratory systemHP:0002086
  • Achilles tendon contractureHP:0001771
  • Axial muscle weaknessHP:0003327
  • Cigarette-paper scarsHP:0001073
  • Curved toe phalanxHP:0010176
  • Elbow flexion contractureHP:0002987
  • Foot dorsiflexor weaknessHP:0009027
  • Generalized amyotrophyHP:0003700
  • Gowers signHP:0003391
  • HyperkeratosisHP:0000962
  • HypoventilationHP:0002791
  • Joint hypermobilityHP:0001382
  • Keratosis pilarisHP:0032152
  • Lumbar hyperlordosisHP:0002938
  • Reduced maximal expiratory pressureHP:0012497
  • Rimmed vacuolesHP:0003805
  • Scapular wingingHP:0003691
  • ScoliosisHP:0002650
  • Spinal rigidityHP:0003306
  • Waddling gaitHP:0002515