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Cerebral palsy, spastic quadriplegic, 2(CPSQ2)

MedGen UID:
442880
Concept ID:
C2752061
Disease or Syndrome
Synonym: CPSQ2
 
Gene (location): KANK1 (9p24.3)
 
Monarch Initiative: MONDO:0013033
OMIM®: 612900

Definition

Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (605388), and mixed (Gustavson et al., 1969). Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy See also CPSQ3 (617008), caused by mutation in the ADD3 gene (601568) on 10q24. Related phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), spastic paraplegia-52 (SPG52; 614067), and neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA; 619026). [from OMIM]

Clinical features

From HPO
Cerebral palsy
MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Lundy CT, Doherty GM, Fairhurst CB
Dev Med Child Neurol 2009 Sep;51(9):705-10. Epub 2009 Apr 21 doi: 10.1111/j.1469-8749.2009.03315.x. PMID: 19459910
Bachrach SJ, Kecskemethy HH, Harcke HT, Lark RK, Miller F, Henderson RC
J Clin Densitom 2006 Apr-Jun;9(2):167-74. Epub 2006 Mar 27 doi: 10.1016/j.jocd.2005.11.003. PMID: 16785077
Steinbok P, Gustavsson B, Kestle JR, Reiner A, Cochrane DD
J Neurosurg 1995 Jul;83(1):18-26. doi: 10.3171/jns.1995.83.1.0018. PMID: 7782840

Recent clinical studies

Etiology

Karim T, Dossetor R, Huong Giang NT, Dung TQ, Son TV, Hoa NX, Tuyet NH, Van Anh NT, Chau CM, Bang NV, Badawi N, Khandaker G, Elliott E
Disabil Rehabil 2022 Jun;44(13):3081-3088. Epub 2021 Jan 4 doi: 10.1080/09638288.2020.1854872. PMID: 33397164
Fortin O, Ng P, Dorais M, Koclas L, Pigeon N, Shevell M, Oskoui M
Can J Neurol Sci 2021 May;48(3):400-407. Epub 2020 Sep 11 doi: 10.1017/cjn.2020.199. PMID: 32912375
Siriwat R, Deerojanawong J, Sritippayawan S, Hantragool S, Cheanprapai P
Respir Care 2018 Feb;63(2):187-193. Epub 2017 Oct 24 doi: 10.4187/respcare.05663. PMID: 29066586
Longo M, Hankins GD
Minerva Ginecol 2009 Oct;61(5):421-9. PMID: 19749673
Hankins GD, Speer M
Obstet Gynecol 2003 Sep;102(3):628-36. doi: 10.1016/s0029-7844(03)00574-x. PMID: 12962954

Diagnosis

Cooper MS, Mackay MT, Dagia C, Fahey MC, Howell KB, Reddihough D, Reid S, Harvey AS
Brain 2023 Feb 13;146(2):587-599. doi: 10.1093/brain/awac274. PMID: 35871494
Fortin O, Ng P, Dorais M, Koclas L, Pigeon N, Shevell M, Oskoui M
Can J Neurol Sci 2021 May;48(3):400-407. Epub 2020 Sep 11 doi: 10.1017/cjn.2020.199. PMID: 32912375
Caselli TB, Lomazi EA, Montenegro MAS, Bellomo-Brandão MA
Arq Gastroenterol 2017 Jul-Sept;54(3):201-205. Epub 2017 Jul 6 doi: 10.1590/S0004-2803.201700000-32. PMID: 28723982
Longo M, Hankins GD
Minerva Ginecol 2009 Oct;61(5):421-9. PMID: 19749673
Hankins GD, Speer M
Obstet Gynecol 2003 Sep;102(3):628-36. doi: 10.1016/s0029-7844(03)00574-x. PMID: 12962954

Therapy

Siriwat R, Deerojanawong J, Sritippayawan S, Hantragool S, Cheanprapai P
Respir Care 2018 Feb;63(2):187-193. Epub 2017 Oct 24 doi: 10.4187/respcare.05663. PMID: 29066586
Rushton PRP, Nasto LA, Aujla RK, Ammar A, Grevitt MP, Vloeberghs MH
Eur Spine J 2017 Jun;26(6):1652-1657. Epub 2016 May 6 doi: 10.1007/s00586-016-4598-x. PMID: 27154169
Vernon-Roberts A, Wells J, Grant H, Alder N, Vadamalayan B, Eltumi M, Sullivan PB
Dev Med Child Neurol 2010 Dec;52(12):1099-105. Epub 2010 Oct 21 doi: 10.1111/j.1469-8749.2010.03789.x. PMID: 20964670
Longo M, Hankins GD
Minerva Ginecol 2009 Oct;61(5):421-9. PMID: 19749673
Nelson KB, Grether JK
Am J Obstet Gynecol 1998 Aug;179(2):507-13. doi: 10.1016/s0002-9378(98)70387-4. PMID: 9731861

Prognosis

Cooper MS, Mackay MT, Dagia C, Fahey MC, Howell KB, Reddihough D, Reid S, Harvey AS
Brain 2023 Feb 13;146(2):587-599. doi: 10.1093/brain/awac274. PMID: 35871494
Karampalis C, Tsirikos AI
Bone Joint J 2014 Jun;96-B(6):800-6. doi: 10.1302/0301-620X.96B6.33020. PMID: 24891582
Simard-Tremblay E, Shevell M, Dagenais L; REPACQ Consortium
J Child Neurol 2010 Jun;25(6):669-73. Epub 2009 Sep 30 doi: 10.1177/0883073809342590. PMID: 19794101
Longo M, Hankins GD
Minerva Ginecol 2009 Oct;61(5):421-9. PMID: 19749673
Hankins GD, Speer M
Obstet Gynecol 2003 Sep;102(3):628-36. doi: 10.1016/s0029-7844(03)00574-x. PMID: 12962954

Clinical prediction guides

Fortin O, Ng P, Dorais M, Koclas L, Pigeon N, Shevell M, Oskoui M
Can J Neurol Sci 2021 May;48(3):400-407. Epub 2020 Sep 11 doi: 10.1017/cjn.2020.199. PMID: 32912375
Siriwat R, Deerojanawong J, Sritippayawan S, Hantragool S, Cheanprapai P
Respir Care 2018 Feb;63(2):187-193. Epub 2017 Oct 24 doi: 10.4187/respcare.05663. PMID: 29066586
Caselli TB, Lomazi EA, Montenegro MAS, Bellomo-Brandão MA
Arq Gastroenterol 2017 Jul-Sept;54(3):201-205. Epub 2017 Jul 6 doi: 10.1590/S0004-2803.201700000-32. PMID: 28723982
Simard-Tremblay E, Shevell M, Dagenais L; REPACQ Consortium
J Child Neurol 2010 Jun;25(6):669-73. Epub 2009 Sep 30 doi: 10.1177/0883073809342590. PMID: 19794101
Venkateswaran S, Shevell MI
Dev Med Child Neurol 2008 Mar;50(3):216-22. Epub 2008 Feb 1 doi: 10.1111/j.1469-8749.2008.02033.x. PMID: 18248493

Recent systematic reviews

Tonmukayakul U, Le LK, Mudiyanselage SB, Engel L, Bucholc J, Mulhern B, Carter R, Mihalopoulos C
Qual Life Res 2019 Jan;28(1):1-12. Epub 2018 Aug 2 doi: 10.1007/s11136-018-1955-8. PMID: 30073470

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