Congenital myasthenic syndrome 4A
- Synonyms
- CONGENITAL MYASTHENIC SYNDROME TYPE Ia1; MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE; Myasthenic syndrome, congenital, 4a, slow-channel
Summary
Available tests
Clinical features
Help- 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
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
- 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
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- 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
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- 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
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- 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
- 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
- Generalized hypotonia due to defect at the neuromuscular junction
Generalized hypotonia due to defect at the neuromuscular junction
- MedGen UID: 343014
- Concept ID: C1853950
- Finding: Finding
Abnormality of the nervous system
- Bulbar palsy
- Abnormality of the respiratory system
- Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress
- MedGen UID: 812792
- Concept ID: C3806462
- Finding: Finding
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
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
- Sudden episodic apnea
Sudden episodic apnea
- MedGen UID: 871194
- Concept ID: C4025671
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Apneic episodes precipitated by illness, fatigue, stress
- Abnormality of the voice
- Weak cry
Weak cry
- MedGen UID: 65892
- Concept ID: C0234860
- Finding: Finding
Abnormality of the voice
- Weak cry
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