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Intervertebral disc disorder(IDD)

MedGen UID:
57852
Concept ID:
C0158252
Disease or Syndrome
Synonyms: IDD; Intervertebral disc disease; Lumbar disk degenerative disorder
SNOMED CT: Disorder of intervertebral disc (36427004); Intervertebral disc disorder (36427004)
 
Genes (locations): ASPN (9q22.31); CILP (15q22.31); COL11A1 (1p21.1); COL9A3 (20q13.33); THBS2 (6q27)
 
Monarch Initiative: MONDO:0044339
OMIM®: 603932

Definition

Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (Matsui et al., 1998; Battie et al., 1995; Sambrook et al., 1999). [from OMIM]

Additional description

From MedlinePlus Genetics
Intervertebral disc disease is a common condition characterized by the breakdown (degeneration) of one or more of the discs that separate the bones of the spine (vertebrae), causing pain in the back or neck and frequently in the legs and arms. The intervertebral discs provide cushioning between vertebrae and absorb pressure put on the spine.

While the discs in the lower (lumbar) region of the spine are most often affected in intervertebral disc disease, any part of the spine can have disc degeneration. Depending on the location of the affected disc or discs, intervertebral disc disease can cause periodic or chronic pain in the back or neck. Pain is often worse when sitting, bending, twisting, or lifting objects.

Degenerated discs are prone to out-pouching (herniation); the protruding disc can press against one of the spinal nerves that run from the spinal cord to the rest of the body. This pressure causes pain, weakness, and numbness in the back and legs. Herniated discs often cause nerve pain called sciatica that travels along the sciatic nerve, which runs from the lower back down the length of each leg.

As a disc degenerates, small bony outgrowths (bone spurs) may form at the edges of the affected vertebrae. These bone spurs may pinch (compress) the spinal nerves, leading to weakness or numbness in the arms or legs. If the bone spurs compress the spinal cord, affected individuals can develop problems with walking and bladder and bowel control. Over time, a degenerating disc may break down completely and leave no space between vertebrae, which can result in impaired movement, pain, and nerve damage.  https://medlineplus.gov/genetics/condition/intervertebral-disc-disease

Professional guidelines

PubMed

Cho SK, Jung SY, Choi S, Im SG, Kim H, Choi WS, Jang EJ, Sung YK
Arthritis Res Ther 2019 Nov 4;21(1):222. doi: 10.1186/s13075-019-2004-x. PMID: 31685008Free PMC Article

Recent clinical studies

Etiology

Liu C, Ran J, Hou B, Li Y, Morelli JN, Li X
J Orthop Res 2024 Jan;42(1):183-192. Epub 2023 Aug 8 doi: 10.1002/jor.25656. PMID: 37408137
Zhao X, Yang Y, Yue R, Su C
PLoS One 2023;18(3):e0283014. Epub 2023 Mar 16 doi: 10.1371/journal.pone.0283014. PMID: 36928028Free PMC Article
Henkel C, Styrkársdóttir U, Thorleifsson G, Stefánsdóttir L, Björnsdóttir G, Banasik K, Brunak S, Erikstrup C, Dinh KM, Hansen TF, Nielsen KR, Bruun MT, Dowsett J, Brodersen T; DBDS Genomic Consortium, Thorgeirsson TE, Gromov K, Boesen MP, Ullum H, Ostrowski SR, Pedersen OB, Stefánsson K, Troelsen A
Ann Rheum Dis 2023 Mar;82(3):384-392. Epub 2022 Nov 14 doi: 10.1136/ard-2022-223199. PMID: 36376028
Shimizu Y, Hayakawa H, Takada M, Okada T, Kiyama M
PLoS One 2021;16(8):e0256281. Epub 2021 Aug 17 doi: 10.1371/journal.pone.0256281. PMID: 34403451Free PMC Article
Elsamadicy AA, Sergesketter AR, Frakes MD, Lad SP
Neurosurgery 2018 Nov 1;83(5):997-1006. doi: 10.1093/neuros/nyx565. PMID: 29325137

Diagnosis

Zhao X, Yang Y, Yue R, Su C
PLoS One 2023;18(3):e0283014. Epub 2023 Mar 16 doi: 10.1371/journal.pone.0283014. PMID: 36928028Free PMC Article
Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E, Oddsson A, Zink F, Lund SH, Nawaz MS, Bragi Walters G, Skuladottir AT, Gudjonsson SA, Einarsson G, Halldorsson GH, Bjarnadottir V, Sveinbjornsson G, Helgadottir A, Styrkarsdottir U, Gudmundsson LJ, Pedersen OB, Hansen TF, Werge T, Banasik K, Troelsen A, Skou ST, Thørner LW, Erikstrup C, Nielsen KR, Mikkelsen S; DBDS Genetic Consortium; GO Consortium, Jonsdottir I, Bjornsson A, Olafsson IH, Ulfarsson E, Blondal J, Vikingsson A, Brunak S, Ostrowski SR, Ullum H, Thorsteinsdottir U, Stefansson H, Gudbjartsson DF, Thorgeirsson TE, Stefansson K
Nat Commun 2022 Feb 2;13(1):634. doi: 10.1038/s41467-022-28167-1. PMID: 35110524Free PMC Article
Chou MC, Huang JY, Hung YM, Perng WT, Chang R, Wei JC
J Formos Med Assoc 2021 Oct;120(10):1897-1906. Epub 2021 Jan 7 doi: 10.1016/j.jfma.2020.12.019. PMID: 33423898
Segal Z, Radinsky K, Elad G, Marom G, Beladev M, Lewis M, Ehrenberg B, Gillis P, Korn L, Koren G
Pharmacol Res Perspect 2020 Dec;8(6):e00669. doi: 10.1002/prp2.669. PMID: 33200572Free PMC Article
Elsamadicy AA, Sergesketter AR, Frakes MD, Lad SP
Neurosurgery 2018 Nov 1;83(5):997-1006. doi: 10.1093/neuros/nyx565. PMID: 29325137

Therapy

Liu C, Ran J, Hou B, Li Y, Morelli JN, Li X
J Orthop Res 2024 Jan;42(1):183-192. Epub 2023 Aug 8 doi: 10.1002/jor.25656. PMID: 37408137
Zhao X, Yang Y, Yue R, Su C
PLoS One 2023;18(3):e0283014. Epub 2023 Mar 16 doi: 10.1371/journal.pone.0283014. PMID: 36928028Free PMC Article
Chou MC, Huang JY, Hung YM, Perng WT, Chang R, Wei JC
J Formos Med Assoc 2021 Oct;120(10):1897-1906. Epub 2021 Jan 7 doi: 10.1016/j.jfma.2020.12.019. PMID: 33423898
Segal Z, Radinsky K, Elad G, Marom G, Beladev M, Lewis M, Ehrenberg B, Gillis P, Korn L, Koren G
Pharmacol Res Perspect 2020 Dec;8(6):e00669. doi: 10.1002/prp2.669. PMID: 33200572Free PMC Article
Lai FY, Nath M, Hamby SE, Thompson JR, Nelson CP, Samani NJ
BMC Med 2018 Oct 25;16(1):187. doi: 10.1186/s12916-018-1175-7. PMID: 30355295Free PMC Article

Prognosis

Zhao X, Yang Y, Yue R, Su C
PLoS One 2023;18(3):e0283014. Epub 2023 Mar 16 doi: 10.1371/journal.pone.0283014. PMID: 36928028Free PMC Article
Segal Z, Radinsky K, Elad G, Marom G, Beladev M, Lewis M, Ehrenberg B, Gillis P, Korn L, Koren G
Pharmacol Res Perspect 2020 Dec;8(6):e00669. doi: 10.1002/prp2.669. PMID: 33200572Free PMC Article
Best MJ, Buller LT, Falakassa J, Vecchione D
Iowa Orthop J 2015;35:147-55. PMID: 26361458Free PMC Article
Infante-Rivard C, Lortie M
Occup Environ Med 1996 Jul;53(7):488-94. doi: 10.1136/oem.53.7.488. PMID: 8704875Free PMC Article

Clinical prediction guides

Zhao X, Yang Y, Yue R, Su C
PLoS One 2023;18(3):e0283014. Epub 2023 Mar 16 doi: 10.1371/journal.pone.0283014. PMID: 36928028Free PMC Article
Pfau A, López-Cayuqueo KI, Scherer N, Wuttke M, Wernstedt A, González Fassrainer D, Smith DE, van de Kamp JM, Ziegeler K, Eckardt KU, Luft FC, Aronson PS, Köttgen A, Jentsch TJ, Knauf F
J Clin Invest 2023 Feb 1;133(3) doi: 10.1172/JCI161849. PMID: 36719378Free PMC Article
Shimizu Y, Hayakawa H, Takada M, Okada T, Kiyama M
PLoS One 2021;16(8):e0256281. Epub 2021 Aug 17 doi: 10.1371/journal.pone.0256281. PMID: 34403451Free PMC Article
Chou MC, Huang JY, Hung YM, Perng WT, Chang R, Wei JC
J Formos Med Assoc 2021 Oct;120(10):1897-1906. Epub 2021 Jan 7 doi: 10.1016/j.jfma.2020.12.019. PMID: 33423898
Segal Z, Radinsky K, Elad G, Marom G, Beladev M, Lewis M, Ehrenberg B, Gillis P, Korn L, Koren G
Pharmacol Res Perspect 2020 Dec;8(6):e00669. doi: 10.1002/prp2.669. PMID: 33200572Free PMC Article

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