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congenital myasthenic syndrome 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Ptosis, and Weak cry; and common findings: Gowers sign, High palate, Poor suck, and Tube feeding and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Low muscle tone (hypotonia), Gowers sign, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Lungs and breathing	3	Respiratory tract infection, Difficulty breathing (respiratory insufficiency), Neonatal respiratory distress
Pregnancy and birth	3	Decreased fetal movement, Neonatal hypotonia, Neonatal respiratory distress
Head and neck	2	High palate, Long face
Growth and development	1	Failure to thrive
Digestive system	1	Feeding difficulties
Brain and nerves	1	Fatigue
Lab test results	1	Anti-neuromuscular Junction acetylcholine receptor antibody positivity
Eyes	1	Ptosis

Age of onset: newborn period.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital myasthenic syndrome 11.

127 publications have been identified in PubMed for congenital myasthenic syndrome 11. Kisho has analyzed 68 by research type. Research spans Basic Science / Preclinical (35%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Laboratory research	24	35%
Research summaries	14	21%
Disease patterns and progression	8	12%
Testing and diagnosis research	7	10%
Patient case studies	6	9%
Clinical study results	5	7%
Other research	3	4%
New treatment approaches	1	1%

Recent Publications

Zhang K (2026). [PMID: 41176539](https://pubmed.ncbi.nlm.nih.gov/41176539/). *Acta Pharmacol Sin*. [Basic Science / Preclinical]
Ge X (2026). [PMID: 40841706](https://pubmed.ncbi.nlm.nih.gov/40841706/). *Acta Pharmacol Sin*. [Basic Science / Preclinical]
Ho K (2026). [PMID: 42146855](https://pubmed.ncbi.nlm.nih.gov/42146855/). *Brain Commun*. [Gene Therapy / Novel Therapeutics]
Mercurio M (2026). [PMID: 41562109](https://pubmed.ncbi.nlm.nih.gov/41562109/). *JSES Int*. [Other]
Ramdas S (2026). [PMID: 41630153](https://pubmed.ncbi.nlm.nih.gov/41630153/). *Brain*. [Review / Meta-Analysis]
Christensen EW (2026). [PMID: 41031940](https://pubmed.ncbi.nlm.nih.gov/41031940/). *AJR Am J Roentgenol*. [Epidemiology / Natural History]
Bulut N (2026). [PMID: 42090667](https://pubmed.ncbi.nlm.nih.gov/42090667/). *Rev Assoc Med Bras (1992)*. [Clinical Trial Publication]
Akçay AA (2026). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clin Genet*. [Basic Science / Preclinical]
Boonyasiri A (2025). [PMID: 40449589](https://pubmed.ncbi.nlm.nih.gov/40449589/). *Clin Microbiol Infect*. [Basic Science / Preclinical]
Kulsirichawaroj P (2025). [PMID: 40494860](https://pubmed.ncbi.nlm.nih.gov/40494860/). *Pediatr Res*. [Diagnostic / Biomarker]

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congenital myasthenic syndrome 11

Overview

Clinical Presentation

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Genetic Landscape

Diagnosis

Prognosis

Research Landscape

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congenital myasthenic syndrome 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team