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Myopathy Secondary to Glycogen Storage Disorder

MedGen UID:
1711004
•Concept ID:
C5238803
•
Finding

Definition

A myopathy that was caused by a primary disorder of glycogen storage. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyopathy Secondary to Glycogen Storage Disorder

Professional guidelines

PubMed

The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.
Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A
Orphanet J Rare Dis 2024 Apr 22;19(1):173. doi: 10.1186/s13023-024-03160-7. PMID: 38649872Free PMC Article
Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
American Association of Neuromuscular & Electrodiagnostic Medicine
Muscle Nerve 2009 Jul;40(1):149-60. doi: 10.1002/mus.21393. PMID: 19533647

Recent clinical studies

Etiology

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators
Neurology 2022 Aug 1;99(5):e536-e548. doi: 10.1212/WNL.0000000000200746. PMID: 35618441Free PMC Article
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Primary periodic paralyses.
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562
Autophagic vacuolar myopathies.
Nishino I
Curr Neurol Neurosci Rep 2003 Jan;3(1):64-9. doi: 10.1007/s11910-003-0040-y. PMID: 12507414

Diagnosis

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M
J Inherit Metab Dis 2024 Mar;47(2):255-269. Epub 2023 Nov 27 doi: 10.1002/jimd.12692. PMID: 38012812
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.
Famili DT, Fernandez-Garcia MA, Vanegas M, Goldberg MF, Voermans N, Quinlivan R, Jungbluth H
Neuromuscul Disord 2023 Nov;33(11):866-872. Epub 2023 Sep 27 doi: 10.1016/j.nmd.2023.09.007. PMID: 37919205
Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).
Üsküdar Cansu D, Erdoğan B, Korkmaz C
Clin Rheumatol 2019 Oct;38(10):2941-2948. Epub 2019 May 1 doi: 10.1007/s10067-019-04572-8. PMID: 31044384
Primary periodic paralyses.
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562
Lactic acidosis in childhood.
Israels S, Haworth JC, Dunn HG, Applegarth DA
Adv Pediatr 1976;22:267-303. PMID: 178159

Therapy

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators
Neurology 2022 Aug 1;99(5):e536-e548. doi: 10.1212/WNL.0000000000200746. PMID: 35618441Free PMC Article
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A, Damiano C, Strollo S, Minopoli N, Indrieri A, Polishchuk E, Zappa F, Nusco E, Fecarotta S, Porto C, Coletta M, Iacono R, Moracci M, Polishchuk R, Medina DL, Imbimbo P, Monti DM, De Matteis MA, Parenti G
EMBO Mol Med 2021 Nov 8;13(11):e14434. Epub 2021 Oct 4 doi: 10.15252/emmm.202114434. PMID: 34606154Free PMC Article
Creatine for treating muscle disorders.
Kley RA, Vorgerd M, Tarnopolsky MA
Cochrane Database Syst Rev 2007 Jan 24;(1):CD004760. doi: 10.1002/14651858.CD004760.pub2. PMID: 17253521

Prognosis

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M
J Inherit Metab Dis 2024 Mar;47(2):255-269. Epub 2023 Nov 27 doi: 10.1002/jimd.12692. PMID: 38012812
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators
Neurology 2022 Aug 1;99(5):e536-e548. doi: 10.1212/WNL.0000000000200746. PMID: 35618441Free PMC Article
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).
Üsküdar Cansu D, Erdoğan B, Korkmaz C
Clin Rheumatol 2019 Oct;38(10):2941-2948. Epub 2019 May 1 doi: 10.1007/s10067-019-04572-8. PMID: 31044384

Clinical prediction guides

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M
J Inherit Metab Dis 2024 Mar;47(2):255-269. Epub 2023 Nov 27 doi: 10.1002/jimd.12692. PMID: 38012812
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators
Neurology 2022 Aug 1;99(5):e536-e548. doi: 10.1212/WNL.0000000000200746. PMID: 35618441Free PMC Article
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Myogenic hyperuricemia: what can we learn from metabolic myopathies?
Mineo I, Tarui S
Muscle Nerve Suppl 1995;3:S75-81. doi: 10.1002/mus.880181416. PMID: 7603532

Recent systematic reviews

Creatine for treating muscle disorders.
Kley RA, Vorgerd M, Tarnopolsky MA
Cochrane Database Syst Rev 2007 Jan 24;(1):CD004760. doi: 10.1002/14651858.CD004760.pub2. PMID: 17253521

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