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Myasthenia, congenital, refractory to acetylcholinesterase inhibitors

MedGen UID:
338127
•Concept ID:
C1850806
•
Disease or Syndrome
Synonym: Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors
 
Monarch Initiative: MONDO:0009687
OMIM®: 254190

Clinical features

From HPO
Fatigable weakness
MedGen UID:
451076
•Concept ID:
C0947912
•
Disease or Syndrome
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
See: Feature record | Search on this feature
Proximal muscle weakness
MedGen UID:
113169
•Concept ID:
C0221629
•
Finding
A lack of strength of the proximal muscles.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
External ophthalmoplegia
MedGen UID:
57662
•Concept ID:
C0162292
•
Disease or Syndrome
Paralysis of the external ocular muscles.
See: Feature record | Search on this feature
Congenital ptosis
MedGen UID:
78612
•Concept ID:
C0266573
•
Congenital Abnormality
The drooping of the upper or lower eyelid that is present at the time of birth.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Italian recommendations for the diagnosis and treatment of myasthenia gravis.
Evoli A, Antonini G, Antozzi C, DiMuzio A, Habetswallner F, Iani C, Inghilleri M, Liguori R, Mantegazza R, Massa R, Pegoraro E, Ricciardi R, Rodolico C
Neurol Sci 2019 Jun;40(6):1111-1124. Epub 2019 Feb 18 doi: 10.1007/s10072-019-03746-1. PMID: 30778878

Recent clinical studies

Etiology

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.
Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK
J Clin Neurosci 2020 Feb;72:468-471. Epub 2019 Dec 10 doi: 10.1016/j.jocn.2019.12.007. PMID: 31831253

Diagnosis

Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia.
Di L, Chen H, Lu Y, Selcen D, Engel AG, Da Y, Shen XM
Neurology 2020 Nov 17;95(20):e2781-e2793. Epub 2020 Sep 9 doi: 10.1212/WNL.0000000000010734. PMID: 32907971Free PMC Article
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.
Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK
J Clin Neurosci 2020 Feb;72:468-471. Epub 2019 Dec 10 doi: 10.1016/j.jocn.2019.12.007. PMID: 31831253
Italian recommendations for the diagnosis and treatment of myasthenia gravis.
Evoli A, Antonini G, Antozzi C, DiMuzio A, Habetswallner F, Iani C, Inghilleri M, Liguori R, Mantegazza R, Massa R, Pegoraro E, Ricciardi R, Rodolico C
Neurol Sci 2019 Jun;40(6):1111-1124. Epub 2019 Feb 18 doi: 10.1007/s10072-019-03746-1. PMID: 30778878
Selective response to rituximab in a young child with MuSK-associated myasthenia gravis.
Govindarajan R, Iyadurai SJ, Connolly A, Zaidman C
Neuromuscul Disord 2015 Aug;25(8):651-2. Epub 2015 Apr 22 doi: 10.1016/j.nmd.2015.03.014. PMID: 25998611

Therapy

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.
Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK
J Clin Neurosci 2020 Feb;72:468-471. Epub 2019 Dec 10 doi: 10.1016/j.jocn.2019.12.007. PMID: 31831253
Selective response to rituximab in a young child with MuSK-associated myasthenia gravis.
Govindarajan R, Iyadurai SJ, Connolly A, Zaidman C
Neuromuscul Disord 2015 Aug;25(8):651-2. Epub 2015 Apr 22 doi: 10.1016/j.nmd.2015.03.014. PMID: 25998611
A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors.
Triggs WJ, Beric A, Butler IJ, Roongta SM
Muscle Nerve 1992 Mar;15(3):267-72. doi: 10.1002/mus.880150302. PMID: 1313543

Clinical prediction guides

A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors.
Triggs WJ, Beric A, Butler IJ, Roongta SM
Muscle Nerve 1992 Mar;15(3):267-72. doi: 10.1002/mus.880150302. PMID: 1313543

Supplemental Content

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