Congenital myasthenic syndrome 9
- Synonyms
- Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Summary
Available tests
Clinical tests (22 available)
Clinical features
Help- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Ophthalmoplegia
Ophthalmoplegia
- MedGen UID: 45205
- Concept ID: C0029089
- Finding: Sign or Symptom
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Ophthalmoplegia
- 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
- 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
- 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
- Easy fatigability
- Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory insufficiency
- Abnormality of the voice
- Hypernasal speech
Hypernasal speech
- MedGen UID: 107884
- Concept ID: C0566620
- Finding: Finding
Abnormality of the voice
- Hypernasal speech
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