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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 behavior, 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
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by 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
Kundu GK, Ahmed S, Akhter S, Islam S
Mymensingh Med J 2020 Jan;29(1):121-128. PMID: 31915347
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
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
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

Ulusaloglu AC, Asma A, Bowen JR, Yorgova P, Howard JJ, Shrader MW, Shah SA
J Pediatr Orthop 2022 Aug 1;42(7):e736-e741. Epub 2022 Jun 1 doi: 10.1097/BPO.0000000000002173. PMID: 35650685
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
Pozin I, Bdolah-Abram T, Ben-Pazi H
J Child Neurol 2014 Apr;29(4):534-7. Epub 2013 Jan 24 doi: 10.1177/0883073812473645. PMID: 23349519
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

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
Ulusaloglu AC, Asma A, Bowen JR, Yorgova P, Howard JJ, Shrader MW, Shah SA
J Pediatr Orthop 2022 Aug 1;42(7):e736-e741. Epub 2022 Jun 1 doi: 10.1097/BPO.0000000000002173. PMID: 35650685
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

Al Amrani F, Sébire G, Chen MF, Wintermark P, Saint-Martin C
Pediatr Neurol 2022 Jan;126:74-79. Epub 2021 Oct 4 doi: 10.1016/j.pediatrneurol.2021.09.020. PMID: 34740136
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
Stadskleiv K, Jahnsen R, Andersen GL, von Tetzchner S
Dev Neurorehabil 2018 Feb;21(2):108-120. Epub 2017 Feb 21 doi: 10.1080/17518423.2017.1282054. PMID: 28632466
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
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

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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