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Myelopathy

MedGen UID:
11550
Concept ID:
C0037928
Disease or Syndrome
Synonyms: Spinal cord disease; Spinal cord disorder
SNOMED CT: Spinal cord disease (48522003); Neurologic myelopathy (48522003); Spinal cord disorder (48522003); MP - Myelopathy (48522003); Myelopathy (48522003)
 
HPO: HP:0002196
Monarch Initiative: MONDO:0002545

Definition

A non neoplastic or neoplastic disorder that affects the spinal cord. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelopathy

Conditions with this feature

HTLV-1-associated myelopathy-tropical spastic paraparesis
MedGen UID:
18298
Concept ID:
C0030481
Disease or Syndrome
A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs.
Ossification of the posterior longitudinal ligament of the spine
MedGen UID:
355447
Concept ID:
C1865343
Disease or Syndrome
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016).
Mucolipidosis type II
MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MedGen UID:
934642
Concept ID:
C4310675
Disease or Syndrome
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.

Professional guidelines

PubMed

McCormick JR, Sama AJ, Schiller NC, Butler AJ, Donnally CJ 3rd
J Am Board Fam Med 2020 Mar-Apr;33(2):303-313. doi: 10.3122/jabfm.2020.02.190195. PMID: 32179614
Woods BI, Hilibrand AS
J Spinal Disord Tech 2015 Jun;28(5):E251-9. doi: 10.1097/BSD.0000000000000284. PMID: 25985461
Cohen SP
Mayo Clin Proc 2015 Feb;90(2):284-99. doi: 10.1016/j.mayocp.2014.09.008. PMID: 25659245

Recent clinical studies

Etiology

Montalvo M, Flanagan EP
Handb Clin Neurol 2024;200:193-201. doi: 10.1016/B978-0-12-823912-4.00017-7. PMID: 38494277
Fletcher AM, Bhattacharyya S
Continuum (Minneap Minn) 2024 Feb 1;30(1):133-159. doi: 10.1212/CON.0000000000001393. PMID: 38330476
Walker MA
Semin Neurol 2021 Jun;41(3):303-308. Epub 2021 Mar 4 doi: 10.1055/s-0041-1725153. PMID: 33663004
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Melancia JL, Francisco AF, Antunes JL
Handb Clin Neurol 2014;119:541-9. doi: 10.1016/B978-0-7020-4086-3.00035-7. PMID: 24365318

Diagnosis

Levy M
Continuum (Minneap Minn) 2024 Feb 1;30(1):180-198. doi: 10.1212/CON.0000000000001382. PMID: 38330478Free PMC Article
Fletcher AM, Bhattacharyya S
Continuum (Minneap Minn) 2024 Feb 1;30(1):133-159. doi: 10.1212/CON.0000000000001393. PMID: 38330476
Williams J, D'Amore P, Redlich N, Darlow M, Suwak P, Sarkovich S, Bhandutia AK
Orthop Clin North Am 2022 Oct;53(4):509-521. Epub 2022 Sep 14 doi: 10.1016/j.ocl.2022.05.007. PMID: 36208893
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Zhovtis Ryerson L, Herbert J, Howard J, Kister I
J Neurol Sci 2014 Nov 15;346(1-2):43-50. Epub 2014 Sep 19 doi: 10.1016/j.jns.2014.09.015. PMID: 25263600

Therapy

Chuang K
Continuum (Minneap Minn) 2024 Feb 1;30(1):224-242. doi: 10.1212/CON.0000000000001383. PMID: 38330480
Mustafa R, Zalewski NL, Flanagan EP, Kumar N
Semin Neurol 2022 Dec;42(6):723-734. Epub 2022 Nov 23 doi: 10.1055/a-1985-0124. PMID: 36417994
Asakly S, Magen-Rimon R, Ighbariya A, Marjih-Shallufi M, Ben-Porat T, Ravid S, Eran A, Gepstein V, Hanna S, Weiss R
Obes Facts 2021;14(4):431-439. Epub 2021 Jul 26 doi: 10.1159/000515374. PMID: 34311464Free PMC Article
Ghogawala Z, Terrin N, Dunbar MR, Breeze JL, Freund KM, Kanter AS, Mummaneni PV, Bisson EF, Barker FG 2nd, Schwartz JS, Harrop JS, Magge SN, Heary RF, Fehlings MG, Albert TJ, Arnold PM, Riew KD, Steinmetz MP, Wang MC, Whitmore RG, Heller JG, Benzel EC
JAMA 2021 Mar 9;325(10):942-951. doi: 10.1001/jama.2021.1233. PMID: 33687463Free PMC Article
Albert TJ, Vacarro A
Spine (Phila Pa 1976) 1998 Dec 15;23(24):2738-45. doi: 10.1097/00007632-199812150-00014. PMID: 9879099

Prognosis

El Khoury M, Mowforth OD, El Khoury A, Partha-Sarathi C, Hirayama Y, Davies BM, Kotter MR
Br J Neurosurg 2022 Jun;36(3):340-345. Epub 2022 Feb 8 doi: 10.1080/02688697.2022.2033701. PMID: 35132923
Alves ÓL
Neurosurg Clin N Am 2021 Oct;32(4):437-448. Epub 2021 Jul 29 doi: 10.1016/j.nec.2021.05.002. PMID: 34538470
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Lin MS, Kung WM, Chiu WT, Lyu RK, Chen CJ, Chen TY
J Neurosurg Spine 2010 Jun;12(6):629-34. doi: 10.3171/2009.12.SPINE09431. PMID: 20515348
Sastre-Garriga J, Montalban X
Lupus 2003;12(12):877-82. doi: 10.1191/0961203303lu496oa. PMID: 14714905

Clinical prediction guides

de Dios E, Laesser M, Björkman-Burtscher IM, Lindhagen L, MacDowall A
Eur Spine J 2022 Dec;31(12):3433-3442. Epub 2022 Sep 2 doi: 10.1007/s00586-022-07359-9. PMID: 36053323
Pescatori L, Tropeano MP, Visocchi M, Grasso G, Ciappetta P
World Neurosurg 2020 Aug;140:548-555. doi: 10.1016/j.wneu.2020.03.100. PMID: 32797986
Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG
Spine (Phila Pa 1976) 2015 Jun 15;40(12):E675-93. doi: 10.1097/BRS.0000000000000913. PMID: 25839387
Nardone R, Höller Y, Storti M, Lochner P, Tezzon F, Golaszewski S, Brigo F, Trinka E
World J Gastroenterol 2014 Mar 14;20(10):2578-85. doi: 10.3748/wjg.v20.i10.2578. PMID: 24627593Free PMC Article
Huang YL, Chen CJ
Neuroimaging Clin N Am 2011 Nov;21(4):939-50, ix-x. doi: 10.1016/j.nic.2011.07.009. PMID: 22032508

Recent systematic reviews

Zara P, Dinoto A, Carta S, Floris V, Turilli D, Budhram A, Ferrari S, Milia S, Solla P, Mariotto S, Flanagan EP, Lopez Chiriboga AS, Sechi E
Eur J Neurol 2023 Oct;30(10):3367-3376. Epub 2023 Jul 19 doi: 10.1111/ene.15983. PMID: 37433584Free PMC Article
Youssef JA, Heiner AD, Montgomery JR, Tender GC, Lorio MP, Morreale JM, Phillips FM
Spine J 2019 Oct;19(10):1714-1729. Epub 2019 May 7 doi: 10.1016/j.spinee.2019.04.019. PMID: 31075361
Phan K, Scherman DB, Xu J, Leung V, Virk S, Mobbs RJ
Eur Spine J 2017 Jan;26(1):94-103. Epub 2016 Jun 24 doi: 10.1007/s00586-016-4671-5. PMID: 27342611
Shriver MF, Lubelski D, Sharma AM, Steinmetz MP, Benzel EC, Mroz TE
Spine J 2016 Feb;16(2):168-81. Epub 2015 Oct 26 doi: 10.1016/j.spinee.2015.10.032. PMID: 26515401
Bartels RH, van Tulder MW, Moojen WA, Arts MP, Peul WC
Eur Spine J 2015 Apr;24 Suppl 2:160-7. Epub 2013 Apr 11 doi: 10.1007/s00586-013-2771-z. PMID: 23575659

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