Congenital myasthenic syndrome 1A
- Synonyms
- CMS IIa; MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; Myasthenic syndrome, congenital, type IIa
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (11 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
- Impaired mastication
Impaired mastication
- MedGen UID: 66779
- Concept ID: C0239043
- Finding: Finding
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Lower limb muscle weakness
Lower limb muscle weakness
- MedGen UID: 324478
- Concept ID: C1836296
- Finding: Finding
Abnormality of limbs
- Upper limb muscle weakness
Upper limb muscle weakness
- MedGen UID: 305607
- Concept ID: C1698196
- Finding: Finding
Abnormality of limbs
- Lower 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
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- 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
- 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
- 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
- Diaphragmatic weakness
Diaphragmatic weakness
- MedGen UID: 101067
- Concept ID: C0521532
- Finding: Finding
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
- Hand muscle atrophy
Hand muscle atrophy
- MedGen UID: 116091
- Concept ID: C0239830
- Finding: Finding
Abnormality of the musculoskeletal system
- Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy
- MedGen UID: 351202
- Concept ID: C1864716
- Finding: Finding
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
- Diaphragmatic weakness
- Abnormality of the nervous system
- Decreased size of nerve terminals
Decreased size of nerve terminals
- MedGen UID: 871144
- Concept ID: C4025615
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Fatigable weakness
Fatigable weakness
- MedGen UID: 451076
- Concept ID: C0947912
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Prolonged miniature endplate currents
Prolonged miniature endplate currents
- MedGen UID: 350370
- Concept ID: C1864238
- Finding: Finding
Abnormality of the nervous system
- Decreased size of nerve terminals
- Abnormality of the respiratory system
- Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness
- MedGen UID: 813355
- Concept ID: C3807025
- Finding: Finding
Abnormality of the respiratory system
- Intermittent episodes of respiratory insufficiency due to muscle weakness
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