congenital myasthenic syndromes
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
neuromuscular junction
|
| gptkbp:cause |
muscle weakness
|
| gptkbp:diagnosedBy |
genetic testing
electromyography |
| gptkbp:differentialDiagnosis |
gptkb:Lambert-Eaton_myasthenic_syndrome
gptkb:myasthenia_gravis |
| gptkbp:firstDescribed |
1977
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital myasthenic syndromes
|
| gptkbp:ICD-10_code |
G70.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
CHAT gene
CHRNE gene COLQ gene DOK7 gene RAPSN gene |
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
ptosis
ophthalmoplegia fatigable muscle weakness |
| gptkbp:treatment |
gptkb:3,4-diaminopyridine
acetylcholinesterase inhibitors beta-2 adrenergic agonists |
| gptkbp:bfsParent |
gptkb:3,4-diaminopyridine
gptkb:pentameric_ligand-gated_ion_channels |
| gptkbp:bfsLayer |
7
|