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Lipid storage myopathy

MedGen UID:
140821
Concept ID:
C0410214
Disease or Syndrome
Synonym: Muscular lipidosis
SNOMED CT: Lipid storage myopathy (240095001)
 
Orphanet: ORPHA206953

Professional guidelines

PubMed

Bhai SF, Vissing J
Muscle Nerve 2023 Sep;68(3):250-256. Epub 2023 May 25 doi: 10.1002/mus.27840. PMID: 37226557
Kleefeld F, von Renesse A, Dittmayer C, Harms L, Radke J, Radbruch H, Goebel HH, Pache F, Schneider U, Schuelke M, Uruha A, Stenzel W
Neuropathol Appl Neurobiol 2022 Feb;48(1):e12731. Epub 2021 May 21 doi: 10.1111/nan.12731. PMID: 33969514
Angelini C
J Neurol 1976 Nov 26;214(1):1-11. doi: 10.1007/BF00313485. PMID: 62824

Recent clinical studies

Etiology

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Missaglia S, Tavian D, Angelini C
Crit Rev Biochem Mol Biol 2021 Aug;56(4):360-372. Epub 2021 Apr 7 doi: 10.1080/10409238.2021.1908952. PMID: 33823724
Xu HL, Lian YJ, Chen X, Zhang L, Cheng X
Chin Med J (Engl) 2019 Aug 5;132(15):1876-1878. doi: 10.1097/CM9.0000000000000310. PMID: 31306230Free PMC Article
Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ
Muscle Nerve 2017 Sep;56(3):479-485. Epub 2017 Mar 21 doi: 10.1002/mus.25501. PMID: 27935074
Angelini C
Biochim Biophys Acta 2015 Apr;1852(4):615-21. Epub 2014 Jul 2 doi: 10.1016/j.bbadis.2014.06.031. PMID: 24997454

Diagnosis

Bhai SF, Vissing J
Muscle Nerve 2023 Sep;68(3):250-256. Epub 2023 May 25 doi: 10.1002/mus.27840. PMID: 37226557
Tein I
Handb Clin Neurol 2013;113:1675-88. doi: 10.1016/B978-0-444-59565-2.00035-6. PMID: 23622388
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T
Eur J Pediatr 2011 Nov;170(11):1365-7. Epub 2011 Sep 23 doi: 10.1007/s00431-011-1575-6. PMID: 21947198
Liang WC, Nishino I
Curr Neurol Neurosci Rep 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. PMID: 21046290
Johnson MA, Fulthorpe JJ, Hudgson P
Acta Neuropathol 1973 Apr 18;24(2):97-106. doi: 10.1007/BF00684832. PMID: 4715530

Therapy

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Paul P, Vazquez Do Campo R, Liewluck T, Naddaf E
Neuromuscul Disord 2021 Jun;31(6):546-550. Epub 2021 Mar 22 doi: 10.1016/j.nmd.2021.03.004. PMID: 33903020
Patten BM, Shabot JM, Alperin J, Dodson RF
Ann Intern Med 1977 Oct;87(4):417-21. doi: 10.7326/0003-4819-87-4-417. PMID: 907240
Johnson MA, Fulthorpe JJ, Hudgson P
Acta Neuropathol 1973 Apr 18;24(2):97-106. doi: 10.1007/BF00684832. PMID: 4715530
Engel AG, Siekert RG
Arch Neurol 1972 Aug;27(2):174-81. doi: 10.1001/archneur.1972.00490140078011. PMID: 5040634

Prognosis

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Wen B, Tang S, Lv X, Li D, Xu J, Olsen RKJ, Zhao Y, Li W, Wang T, Shao K, Zhao D, Yan C
Hum Mol Genet 2022 Mar 31;31(7):1115-1129. doi: 10.1093/hmg/ddab308. PMID: 34718578
Missaglia S, Tavian D, Angelini C
Crit Rev Biochem Mol Biol 2021 Aug;56(4):360-372. Epub 2021 Apr 7 doi: 10.1080/10409238.2021.1908952. PMID: 33823724
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T
Eur J Pediatr 2011 Nov;170(11):1365-7. Epub 2011 Sep 23 doi: 10.1007/s00431-011-1575-6. PMID: 21947198

Clinical prediction guides

Sadeh M, Dory A, Lev D, Yosovich K, Dabby R
J Neurol Sci 2024 Jan 15;456:122808. Epub 2023 Nov 24 doi: 10.1016/j.jns.2023.122808. PMID: 38043332
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H
Turk J Med Sci 2022 Aug;52(4):1256-1265. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5431. PMID: 36326420Free PMC Article
Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ
Muscle Nerve 2017 Sep;56(3):479-485. Epub 2017 Mar 21 doi: 10.1002/mus.25501. PMID: 27935074
Pinelli P, Poloni M, Nappi G, Scelsi R
Eur Neurol 1975;13(3):273-84. doi: 10.1159/000114683. PMID: 1149751
Engel AG, Angelini C
Science 1973 Mar 2;179(4076):899-902. doi: 10.1126/science.179.4076.899. PMID: 4687787

Recent systematic reviews

Ma J, Zhang H, Liang F, Li G, Pang X, Zhao R, Wang J, Chang X, Guo J, Zhang W
Orphanet J Rare Dis 2024 Feb 16;19(1):72. doi: 10.1186/s13023-024-03072-6. PMID: 38365830Free PMC Article

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