Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital myopathy with myasthenic-like onset - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy with myasthenic-like onset

MONDO:0018528

Overview

Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for congenital myopathy with myasthenic-like onset has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 myopathy with myasthenic-like onset.

4 publications have been identified in PubMed for congenital myopathy with myasthenic-like onset. Research spans Case Report / Case Series (75%) and Diagnostic / Biomarker (25%).

Recent Publications

Jose A (2026). [PMID: 41999517](https://pubmed.ncbi.nlm.nih.gov/41999517/). *Neurogenetics*. [Case Report / Case Series]
Finsterer J (2025). [PMID: 40330390](https://pubmed.ncbi.nlm.nih.gov/40330390/). *Cureus*. [Case Report / Case Series]
Kulsirichawaroj P (2025). [PMID: 40494860](https://pubmed.ncbi.nlm.nih.gov/40494860/). *Pediatric research*. [Diagnostic / Biomarker]
Lail G (2024). [PMID: 38484275](https://pubmed.ncbi.nlm.nih.gov/38484275/). *Neurology*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 12:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:424107

GARD

Genetic and Rare Diseases Info Center

GARD:21783

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

congenital myopathy with myasthenic-like onset

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team