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Paraplegia

MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
Synonym: Severe or complete loss of motor function in the lower extremities and lower portions of the trunk
SNOMED CT: Paraplegia (60389000); Paralysis of both lower limbs (60389000); Lower paraplegia (60389000); Paraplegia (complete or partial paralysis of legs) (60389000)
 
HPO: HP:0010550
Monarch Initiative: MONDO:0003757

Definition

Severe or complete weakness of both lower extremities with sparing of the upper extremities. [from HPO]

Conditions with this feature

Intradural spinal arachnoid cyst
MedGen UID:
83372
Concept ID:
C0344485
Disease or Syndrome
Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.
MASA syndrome
MedGen UID:
162894
Concept ID:
C0795953
Disease or Syndrome
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.
Hereditary spastic paraplegia 15
MedGen UID:
341387
Concept ID:
C1849128
Disease or Syndrome
Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive spasticity that begins in the lower extremities and is associated with several manifestations resulting from central and peripheral nervous system dysfunction. While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.
Hereditary spastic paraplegia 4
MedGen UID:
401097
Concept ID:
C1866855
Disease or Syndrome
Spastic paraplegia 4 (SPG4; also known as SPAST-HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. Sphincter disturbances are very common. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable.
Hereditary spastic paraplegia 34
MedGen UID:
437069
Concept ID:
C2677897
Disease or Syndrome
A pure form of hereditary spastic paraplegia with late childhood to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.
Familial amyloid neuropathy
MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.
Hereditary spastic paraplegia 3A
MedGen UID:
419393
Concept ID:
C2931355
Disease or Syndrome
Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MedGen UID:
865814
Concept ID:
C4017377
Disease or Syndrome
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
MIRAGE syndrome
MedGen UID:
924576
Concept ID:
C4284088
Disease or Syndrome
MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.

Professional guidelines

PubMed

Upchurch GR Jr, Escobar GA, Azizzadeh A, Beck AW, Conrad MF, Matsumura JS, Murad MH, Perry RJ, Singh MJ, Veeraswamy RK, Wang GJ
J Vasc Surg 2021 Jan;73(1S):55S-83S. Epub 2020 Jul 3 doi: 10.1016/j.jvs.2020.05.076. PMID: 32628988
Wang B, Gao W, Hao D
Curr Drug Targets 2020;21(4):320-327. doi: 10.2174/1389450120666191002151637. PMID: 31577205
Tweedy SM, Beckman EM, Geraghty TJ, Theisen D, Perret C, Harvey LA, Vanlandewijck YC
J Sci Med Sport 2017 Feb;20(2):108-115. Epub 2016 Mar 9 doi: 10.1016/j.jsams.2016.02.001. PMID: 27185457

Recent clinical studies

Etiology

Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Panza E, Meyyazhagan A, Orlacchio A
Exp Neurol 2022 Nov;357:114203. Epub 2022 Aug 13 doi: 10.1016/j.expneurol.2022.114203. PMID: 35970204
Murala S, Nagarajan E, Bollu PC
Neurol Sci 2021 Mar;42(3):883-894. Epub 2021 Jan 13 doi: 10.1007/s10072-020-04981-7. PMID: 33439395
Shribman S, Reid E, Crosby AH, Houlden H, Warner TT
Lancet Neurol 2019 Dec;18(12):1136-1146. Epub 2019 Jul 31 doi: 10.1016/S1474-4422(19)30235-2. PMID: 31377012
Blackstone C
Handb Clin Neurol 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7. PMID: 29478605

Diagnosis

Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Meyyazhagan A, Orlacchio A
Int J Mol Sci 2022 Feb 1;23(3) doi: 10.3390/ijms23031697. PMID: 35163618Free PMC Article
Murala S, Nagarajan E, Bollu PC
Neurol Sci 2021 Mar;42(3):883-894. Epub 2021 Jan 13 doi: 10.1007/s10072-020-04981-7. PMID: 33439395
Shribman S, Reid E, Crosby AH, Houlden H, Warner TT
Lancet Neurol 2019 Dec;18(12):1136-1146. Epub 2019 Jul 31 doi: 10.1016/S1474-4422(19)30235-2. PMID: 31377012
Baker JH, Silver JR
J Neurol Neurosurg Psychiatry 1987 Apr;50(4):375-82. doi: 10.1136/jnnp.50.4.375. PMID: 3585346Free PMC Article

Therapy

Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ
J Clin Invest 2023 May 15;133(10) doi: 10.1172/JCI164575. PMID: 36951961Free PMC Article
Paganoni S, Watkins C, Cawson M, Hendrix S, Dickson SP, Knowlton N, Timmons J, Manuel M, Cudkowicz M
Muscle Nerve 2022 Aug;66(2):136-141. Epub 2022 May 31 doi: 10.1002/mus.27569. PMID: 35508892Free PMC Article
Haubert LL, Mulroy SJ, Eberly VJ, Gronley JK, Hatchett PE, Conners SG
Top Spinal Cord Inj Rehabil 2021 Fall;27(4):40-52. Epub 2021 Jun 30 doi: 10.46292/sci20-00013. PMID: 34866887Free PMC Article
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030
Mulroy SJ, Thompson L, Kemp B, Hatchett PP, Newsam CJ, Lupold DG, Haubert LL, Eberly V, Ge TT, Azen SP, Winstein CJ, Gordon J; Physical Therapy Clinical Research Network (PTClinResNet)
Phys Ther 2011 Mar;91(3):305-24. Epub 2011 Feb 3 doi: 10.2522/ptj.20100182. PMID: 21292803

Prognosis

Cheng Z, Xu J, Guo Y
Heart Surg Forum 2021 May 25;24(3):E487-E492. doi: 10.1532/hsf.3731. PMID: 34173757
Papakonstantinou NA, Antonopoulos CN, Baikoussis NG, Kakisis I, Geroulakos G
Heart Lung Circ 2019 Feb;28(2):213-222. Epub 2018 Jun 11 doi: 10.1016/j.hlc.2018.04.306. PMID: 30056013
Nienaber CA, Rousseau H, Eggebrecht H, Kische S, Fattori R, Rehders TC, Kundt G, Scheinert D, Czerny M, Kleinfeldt T, Zipfel B, Labrousse L, Ince H; INSTEAD Trial
Circulation 2009 Dec 22;120(25):2519-28. Epub 2009 Dec 7 doi: 10.1161/CIRCULATIONAHA.109.886408. PMID: 19996018
Schneider F, Putzier M
Spine (Phila Pa 1976) 2002 Dec 15;27(24):E545-7. doi: 10.1097/00007632-200212150-00026. PMID: 12486366
Moon MS
Spine (Phila Pa 1976) 1997 Aug 1;22(15):1791-7. doi: 10.1097/00007632-199708010-00022. PMID: 9259793

Clinical prediction guides

Jacobi H, Weiler M, Sam G, Heiland S, Hayes JM, Bendszus M, Schüle R, Hayes JC
Eur J Neurol 2023 Aug;30(8):2442-2452. Epub 2023 May 26 doi: 10.1111/ene.15841. PMID: 37154411
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Darios F, Coarelli G, Durr A
Curr Opin Neurobiol 2022 Feb;72:8-14. Epub 2021 Aug 14 doi: 10.1016/j.conb.2021.07.005. PMID: 34403957
Hsu SL, Hsueh HW, Chen SY, Chang YY, Tan S, Hong CT, Tsai YS, Yu KW, Wu HM, Liao YC, Soong BW, Hu CJ, Lan MY, Lee YC
Parkinsonism Relat Disord 2021 Jun;87:87-91. Epub 2021 May 11 doi: 10.1016/j.parkreldis.2021.05.004. PMID: 34015694
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z
Clin Genet 2021 Jul;100(1):51-58. Epub 2021 Mar 18 doi: 10.1111/cge.13955. PMID: 33713342

Recent systematic reviews

Pozza DH, Tavares I, Cruz CD, Fonseca S
Int J Mol Sci 2023 Feb 28;24(5) doi: 10.3390/ijms24054665. PMID: 36902095Free PMC Article
Santos LV, Pereira ET, Reguera-García MM, Oliveira CEP, Moreira OC
J Bodyw Mov Ther 2022 Jan;29:154-160. Epub 2021 Oct 12 doi: 10.1016/j.jbmt.2021.09.031. PMID: 35248264
Crowley E, Harrison AJ, Lyons M
Sports Med 2017 Nov;47(11):2285-2307. doi: 10.1007/s40279-017-0730-2. PMID: 28497283
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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