Myasthenic syndrome, congenital, 1B, fast-channel
- Synonyms
- Fast-Channel Congenital Myasthenia Syndrome
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (57 available)
Clinical features
Help- Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Limb muscle weakness
Limb muscle weakness
- MedGen UID: 107956
- Concept ID: C0587246
- Finding: Finding
Abnormality of limbs
- Limb muscle weakness
- Abnormality of the digestive system
- Abnormality of the eye
- Ophthalmoparesis
Ophthalmoparesis
- MedGen UID: 155551
- Concept ID: C0751401
- Finding: Sign or Symptom
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ophthalmoparesis
- Abnormality of the immune system
- Anti-acetylcholine receptor antibody positivity
Anti-acetylcholine receptor antibody positivity
- MedGen UID: 868186
- Concept ID: C4022578
- Finding: Finding
Abnormality of the immune system
- Anti-acetylcholine receptor antibody positivity
- Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
- MedGen UID: 1830310
- Concept ID: C5779613
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- MedGen UID: 892749
- Concept ID: C4021728
- Finding: Finding
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized muscle weakness
Generalized muscle weakness
- MedGen UID: 155433
- Concept ID: C0746674
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Gowers sign
Gowers sign
- MedGen UID: 65865
- Concept ID: C0234182
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Neck muscle weakness
Neck muscle weakness
- MedGen UID: 66808
- Concept ID: C0240479
- Finding: Finding
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy
- MedGen UID: 355249
- Concept ID: C1864580
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Weakness of facial musculature
Weakness of facial musculature
- MedGen UID: 98103
- Concept ID: C0427055
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Abnormality of the nervous system
- Bulbar palsy
Bulbar palsy
- MedGen UID: 898626
- Concept ID: C4082299
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Decreased miniature endplate potentials
Decreased miniature endplate potentials
- MedGen UID: 381306
- Concept ID: C1853952
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Easy fatigability
Easy fatigability
- MedGen UID: 373253
- Concept ID: C1837098
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Bulbar palsy
- Abnormality of the respiratory system
- Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness
- MedGen UID: 812797
- Concept ID: C3806467
- Finding: Finding
Abnormality of the respiratory system
- Respiratory insufficiency due to muscle weakness
- Abnormality of the voice
- Weak cry
Weak cry
- MedGen UID: 65892
- Concept ID: C0234860
- Finding: Finding
Abnormality of the voice
- Weak cry
- Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
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