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Presynaptic congenital myasthenic syndrome

ORPHA:98914 · Etiological subtype · Subtype of disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(10)

  • DysphagiaHP:0002015
  • Fatigable weaknessHP:0003473
  • Feeding difficultiesHP:0011968
  • Frontalis muscle weaknessHP:0004661
  • Intermittent episodes of respiratory insufficiency due to muscle weaknessHP:0004889
  • Neck muscle weaknessHP:0000467
  • Poor suckHP:0002033
  • Proximal muscle weaknessHP:0003701
  • PtosisHP:0000508
  • Sudden episodic apneaHP:0002882

Frequent (79-30%)(20)

  • Apneic episodes precipitated by illness, fatigue, stressHP:0002872
  • Arthrogryposis multiplex congenitaHP:0002804
  • AtaxiaHP:0001251
  • Bulbar palsyHP:0001283
  • Central sleep apneaHP:0010536
  • Choking episodesHP:0030842
  • CyanosisHP:0000961
  • Decreased fetal movementHP:0001558
  • Easy fatigabilityHP:0003388
  • EMG: impaired neuromuscular transmissionHP:0100285
  • Episodic respiratory distressHP:0004885
  • Gait disturbanceHP:0001288
  • Generalized muscle weaknessHP:0003324
  • Hypernasal speechHP:0001611
  • Intellectual disabilityHP:0001249
  • Muscle fiber atrophyHP:0100295
  • Nasal regurgitationHP:0011469
  • Neuropathic spinal arthropathyHP:0008443
  • OphthalmoplegiaHP:0000602
  • Recurrent respiratory infectionsHP:0002205

Occasional (29-5%)(20)

  • AreflexiaHP:0001284
  • Distal amyotrophyHP:0003693
  • Distal lower limb muscle weaknessHP:0009053
  • DysphoniaHP:0001618
  • EMG: myopathic abnormalitiesHP:0003458
  • High palateHP:0000218
  • HypotoniaHP:0001252
  • KyphoscoliosisHP:0002751
  • Limb-girdle muscle weaknessHP:0003325
  • Long faceHP:0000276
  • Motor delayHP:0001270
  • Narrow jawHP:0012801
  • Pes cavusHP:0001761
  • Poor head controlHP:0002421
  • SeizureHP:0001250
  • Spinal rigidityHP:0003306
  • StridorHP:0010307
  • Tip-toe gaitHP:0030051
  • Waddling gaitHP:0002515
  • Weak cryHP:0001612

Very rare (<4-1%)(17)

  • Congenital hip dislocationHP:0001374
  • DiplopiaHP:0000651
  • EEG with polyspike wave complexesHP:0002392
  • EsotropiaHP:0000565
  • Gastroesophageal refluxHP:0002020
  • HyporeflexiaHP:0001265
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • MicroretrognathiaHP:0000308
  • Motor polyneuropathyHP:0007178
  • NystagmusHP:0000639
  • Obstructive sleep apneaHP:0002870
  • Pectus carinatumHP:0000768
  • PolyhydramniosHP:0001561
  • Respiratory arrestHP:0005943
  • Sensorineural hearing impairmentHP:0000407
  • Staring gazeHP:0025401

Excluded (0%)(1)

  • Anti-neuromuscular Junction acetylcholine receptor antibody positivityHP:0030208