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RYR1-related disorder

MedGen UID:
893366
•Concept ID:
CN239331
•
Disease or Syndrome
Synonyms: RYR1-related condition; RYR1-related disorders

Professional guidelines

PubMed

Targeting ryanodine receptors with allopurinol and xanthine derivatives for the treatment of cardiac and musculoskeletal weakness disorders.
Miotto MC, Luna-Figueroa E, Tchagou C, Bahlouli L, Reiken S, Dridi H, Liu Y, Weninger G, Marks AR
Proc Natl Acad Sci U S A 2025 Jun 17;122(24):e2422082122. Epub 2025 Jun 13 doi: 10.1073/pnas.2422082122. PMID: 40512792Free PMC Article
Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.
Zhao Q, Li X, Liu L, Zhang X, Pan X, Yao H, Ma Y, Tan B
BMC Med Genomics 2022 Sep 21;15(1):202. doi: 10.1186/s12920-022-01358-x. PMID: 36131268Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article

Recent clinical studies

Etiology

Exercise capacity in RYR1-related myopathies.
Chin LMK, Todd JJ, Chrismer IC, Witherspoon JW, Jain M, Waite M, Meilleur KG, Drinkard B, Lawal TA
Orphanet J Rare Dis 2025 Sep 24;20(1):485. doi: 10.1186/s13023-025-04013-7. PMID: 40993798Free PMC Article
NAD(+) dyshomeostasis in RYR1-related myopathies.
Lawal TA, Riekhof W, Groom L, Varma P, Chrismer IC, Kokkinis A, Grunseich C, Witherspoon JW, Razaqyar MS, Sinaii N, Meilleur KG, Xiang L, Buzkova J, Euro L, Mohassel P, Dirksen RT, Todd JJ
Skelet Muscle 2025 Aug 22;15(1):22. doi: 10.1186/s13395-025-00390-6. PMID: 40846977Free PMC Article
Pancreatitis in RYR1-related disorders.
Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H
Neuromuscul Disord 2023 Oct;33(10):769-775. Epub 2023 Sep 16 doi: 10.1016/j.nmd.2023.09.003. PMID: 37783627
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ
Eur J Neurol 2015 Jul;22(7):1094-112. Epub 2015 May 11 doi: 10.1111/ene.12713. PMID: 25960145
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article

Diagnosis

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
van de Camp SAJH, Stinissen L, Huseth A, Simon B, Ryan J, Sarkozy A, Van Petegem F, Goldberg MF, Jungbluth H, Böhm J, Oortwijn W, Dirksen RT, Voermans NC
J Neuromuscul Dis 2024;11(5):1067-1083. doi: 10.3233/JND-240029. PMID: 39150833Free PMC Article
Pancreatitis in RYR1-related disorders.
Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H
Neuromuscul Disord 2023 Oct;33(10):769-775. Epub 2023 Sep 16 doi: 10.1016/j.nmd.2023.09.003. PMID: 37783627
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E
Acta Neuropathol Commun 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. PMID: 35428369Free PMC Article
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I
Neuromuscul Disord 2021 Oct;31(10):968-977. Epub 2021 Sep 17 doi: 10.1016/j.nmd.2021.08.015. PMID: 34627702
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article

Therapy

Exercise capacity in RYR1-related myopathies.
Chin LMK, Todd JJ, Chrismer IC, Witherspoon JW, Jain M, Waite M, Meilleur KG, Drinkard B, Lawal TA
Orphanet J Rare Dis 2025 Sep 24;20(1):485. doi: 10.1186/s13023-025-04013-7. PMID: 40993798Free PMC Article
Targeting ryanodine receptors with allopurinol and xanthine derivatives for the treatment of cardiac and musculoskeletal weakness disorders.
Miotto MC, Luna-Figueroa E, Tchagou C, Bahlouli L, Reiken S, Dridi H, Liu Y, Weninger G, Marks AR
Proc Natl Acad Sci U S A 2025 Jun 17;122(24):e2422082122. Epub 2025 Jun 13 doi: 10.1073/pnas.2422082122. PMID: 40512792Free PMC Article
Treatments for RYR1-related disorders.
Raga S, Voermans N, Perez-Neri I, Dowling J, Jungbluth H, Baranello G, Servais L, Tillema A, Wilmshurst J
Cochrane Database Syst Rev 2024 Dec 10;12(12):CD014439. doi: 10.1002/14651858.CD014439. PMID: 39655671Free PMC Article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.
Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M, Elliott JS, Tounkara F, Kuo A, Shelton MO, Allen C, Cosgrove MM, Linton M, Michael D, Jain MS, Waite M, Drinkard B, Wakim PG, Dowling JJ, Bönnemann CG, Emile-Backer M, Meilleur KG
Neurology 2020 Mar 31;94(13):e1434-e1444. Epub 2020 Jan 15 doi: 10.1212/WNL.0000000000008872. PMID: 31941795Free PMC Article

Prognosis

Exercise capacity in RYR1-related myopathies.
Chin LMK, Todd JJ, Chrismer IC, Witherspoon JW, Jain M, Waite M, Meilleur KG, Drinkard B, Lawal TA
Orphanet J Rare Dis 2025 Sep 24;20(1):485. doi: 10.1186/s13023-025-04013-7. PMID: 40993798Free PMC Article
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F
Neurology 2023 Oct 10;101(15):e1495-e1508. Epub 2023 Aug 29 doi: 10.1212/WNL.0000000000207723. PMID: 37643885Free PMC Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E
Acta Neuropathol Commun 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. PMID: 35428369Free PMC Article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article

Clinical prediction guides

NAD(+) dyshomeostasis in RYR1-related myopathies.
Lawal TA, Riekhof W, Groom L, Varma P, Chrismer IC, Kokkinis A, Grunseich C, Witherspoon JW, Razaqyar MS, Sinaii N, Meilleur KG, Xiang L, Buzkova J, Euro L, Mohassel P, Dirksen RT, Todd JJ
Skelet Muscle 2025 Aug 22;15(1):22. doi: 10.1186/s13395-025-00390-6. PMID: 40846977Free PMC Article
Pancreatitis in RYR1-related disorders.
Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H
Neuromuscul Disord 2023 Oct;33(10):769-775. Epub 2023 Sep 16 doi: 10.1016/j.nmd.2023.09.003. PMID: 37783627
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E
Acta Neuropathol Commun 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. PMID: 35428369Free PMC Article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article

Recent systematic reviews

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review.
Kruijt N, van den Bersselaar LR, Wijma J, Verbeeck W, Coenen MJH, Neville J, Snoeck M, Kamsteeg EJ, Jungbluth H, Kramers C, Voermans NC
Neuromuscul Disord 2020 Dec;30(12):949-958. Epub 2020 Oct 31 doi: 10.1016/j.nmd.2020.10.010. PMID: 33250373

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