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A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.
Biomarker and diagnostic research for RYR1-related myopathy has been reported in the published literature.
1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE2. Research is primarily industry-sponsored.
29 publications have been identified in PubMed for RYR1-related myopathy. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (17%), and Gene Therapy / Novel Therapeutics (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 31% |
Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 8:12 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Common questions about RYR1-related myopathy
Patient case studies | 5 | 17% |
New treatment approaches | 5 | 17% |
Testing and diagnosis research | 3 | 10% |
Disease patterns and progression | 3 | 10% |
Research summaries | 2 | 7% |
Clinical study results | 2 | 7% |
Varma P (2026). [PMID: 42182215](https://pubmed.ncbi.nlm.nih.gov/42182215/). *bioRxiv*. [Diagnostic / Biomarker]
Robinson RL (2026). [PMID: 42120542](https://pubmed.ncbi.nlm.nih.gov/42120542/). *Eur J Hum Genet*. [Review / Meta-Analysis]
Sarıkaya Uzan G (2026). [PMID: 41675683](https://pubmed.ncbi.nlm.nih.gov/41675683/). *Molecular syndromology*. [Case Report / Case Series]
Ruiz A (2025). [PMID: 39946277](https://pubmed.ncbi.nlm.nih.gov/39946277/). *Human molecular genetics*. [Basic Science / Preclinical]
Onofre-Oliveira P (2025). [PMID: 40273816](https://pubmed.ncbi.nlm.nih.gov/40273816/). *Neuromuscular disorders : NMD*. [Epidemiology / Natural History]
Miotto MC (2025). [PMID: 40512792](https://pubmed.ncbi.nlm.nih.gov/40512792/). *Proceedings of the National Academy of Sciences of the United States of America*. [Gene Therapy / Novel Therapeutics]
Shimazaki R (2025). [PMID: 41270518](https://pubmed.ncbi.nlm.nih.gov/41270518/). *Neuromuscular disorders : NMD*. [Basic Science / Preclinical]
Ying EZ (2025). [PMID: 40192509](https://pubmed.ncbi.nlm.nih.gov/40192509/). *Human molecular genetics*. [Diagnostic / Biomarker]
Godbout K (2025). [PMID: 40243436](https://pubmed.ncbi.nlm.nih.gov/40243436/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]
Shimomura R (2025). [PMID: 40311547](https://pubmed.ncbi.nlm.nih.gov/40311547/). *Brain & development*. [Case Report / Case Series]