Congenital myasthenic syndrome 12
- Synonyms
- MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; Myasthenia, congenital, 12, with tubular aggregates
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Mildly elevated creatine kinase
Mildly elevated creatine kinase
- MedGen UID: 342469
- Concept ID: C1850309
- Finding: Finding
Abnormality of metabolism/homeostasis
- Mildly elevated creatine kinase
- 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
- Retinoschisis
Retinoschisis
- MedGen UID: 56292
- Concept ID: C0152439
- Finding: Disease or Syndrome
Abnormality of the eye
- Ophthalmoparesis
- 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
- Gowers sign
Gowers sign
- MedGen UID: 65865
- Concept ID: C0234182
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle spasm
Muscle spasm
- MedGen UID: 52431
- Concept ID: C0037763
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Neck muscle weakness
Neck muscle weakness
- MedGen UID: 66808
- Concept ID: C0240479
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal amyotrophy
Proximal amyotrophy
- MedGen UID: 342591
- Concept ID: C1850794
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Abnormality of the nervous system
- Easy fatigability
Easy fatigability
- MedGen UID: 373253
- Concept ID: C1837098
- Finding: Finding
Abnormality of the nervous system
- Fatigable weakness
Fatigable weakness
- MedGen UID: 451076
- Concept ID: C0947912
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Easy fatigability
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