U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cerebral palsy, spastic quadriplegic, 3(CPSQ3)

MedGen UID:
934734
Concept ID:
C4310767
Disease or Syndrome
Synonym: CPSQ3
 
Gene (location): ADD3 (10q25.1-25.2)
 
Monarch Initiative: MONDO:0014862
OMIM®: 617008

Definition

Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. [from NCBI]

Additional descriptions

From NCBI curation
Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.
From OMIM
Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development (summary by Verkerk et al., 2009).  http://www.omim.org/entry/612936

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Spastic diplegia
MedGen UID:
44181
Concept ID:
C0023882
Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Gray matter heterotopia
MedGen UID:
452349
Concept ID:
C0266491
Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Supranuclear gaze palsy
MedGen UID:
314030
Concept ID:
C1720037
Disease or Syndrome
A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
Convergence-retraction nystagmus
MedGen UID:
754425
Concept ID:
C2939429
Disease or Syndrome
Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral palsy, spastic quadriplegic, 3

Professional guidelines

PubMed

Abdelmageed S, Dalmage M, Mossner JM, Trierweiler R, Krater T, Raskin JS
Neurosurg Focus 2024 Jun;56(6):E9. doi: 10.3171/2024.3.FOCUS2472. PMID: 38823052
Erasmus CE, Van Hulst K, Van Den Hoogen FJ, Van Limbeek J, Roeleveld N, Veerman EC, Rotteveel JJ, Jongerius PH
Dev Med Child Neurol 2010 Jun;52(6):e114-8. Epub 2010 Feb 12 doi: 10.1111/j.1469-8749.2009.03601.x. PMID: 20163435
Gornall P, Hitchcock E, Kirkland IS
Dev Med Child Neurol 1975 Jun;17(3):279-86. doi: 10.1111/j.1469-8749.1975.tb04663.x. PMID: 1107096

Suggested Reading

PubMed

Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisán-Ruiz C, Houlden H
Ann Neurol 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971. PMID: 23836506Free PMC Article

Recent clinical studies

Etiology

Keough JR, Irvine B, Kelly D, Wrightson J, Comaduran Marquez D, Kinney-Lang E, Kirton A
J Neuroeng Rehabil 2024 Apr 24;21(1):61. doi: 10.1186/s12984-024-01349-2. PMID: 38658998Free PMC Article
Aydin K; Turkish Cerebral Palsy Study Group
Clin Nutr ESPEN 2018 Aug;26:27-34. Epub 2018 May 31 doi: 10.1016/j.clnesp.2018.05.002. PMID: 29908679
Erkin G, Culha C, Ozel S, Kirbiyik EG
Int J Rehabil Res 2010 Sep;33(3):218-24. doi: 10.1097/MRR.0b013e3283375e10. PMID: 20216224
Chen KH, Chen CY, Hsu HC, Chen CL, Lin CH, Hsieh WC, Chen CM, Hong JP
Chang Gung Med J 2009 Nov-Dec;32(6):628-35. PMID: 20035642
Nelson KB, Lynch JK
Lancet Neurol 2004 Mar;3(3):150-8. doi: 10.1016/S1474-4422(04)00679-9. PMID: 14980530

Diagnosis

Srivastava S, Koh HY, Smith L, Poduri A; Boston Children's Hospital Neurology Phenotyping and Referral Group
Pediatr Neurol 2024 Aug;157:79-86. Epub 2024 May 31 doi: 10.1016/j.pediatrneurol.2024.05.016. PMID: 38901369
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
Cho HK, Jang SH, Lee E, Kim SY, Kim S, Kwon YH, Son SM
AJNR Am J Neuroradiol 2013 Mar;34(3):650-4. Epub 2012 Sep 13 doi: 10.3174/ajnr.A3272. PMID: 22976239Free PMC Article
Nelson KB, Lynch JK
Lancet Neurol 2004 Mar;3(3):150-8. doi: 10.1016/S1474-4422(04)00679-9. PMID: 14980530
Pfister AA, Roberts AG, Taylor HM, Noel-Spaudling S, Damian MM, Charles PD
Arch Phys Med Rehabil 2003 Dec;84(12):1808-12. doi: 10.1016/s0003-9993(03)00368-x. PMID: 14669188

Therapy

Keough JR, Irvine B, Kelly D, Wrightson J, Comaduran Marquez D, Kinney-Lang E, Kirton A
J Neuroeng Rehabil 2024 Apr 24;21(1):61. doi: 10.1186/s12984-024-01349-2. PMID: 38658998Free PMC Article
Rahman K, Rahman MM, Fatema K
Mymensingh Med J 2021 Jul;30(3):678-683. PMID: 34226455
Longo M, Hankins GD
Minerva Ginecol 2009 Oct;61(5):421-9. PMID: 19749673
Hu GC, Chuang YC, Liu JP, Chien KL, Chen YM, Chen YF
Clin Rehabil 2009 Jan;23(1):64-71. doi: 10.1177/0269215508097861. PMID: 19114438
Senaran H, Shah SA, Presedo A, Dabney KW, Glutting JW, Miller F
Spine (Phila Pa 1976) 2007 Oct 1;32(21):2348-54. doi: 10.1097/BRS.0b013e3181557252. PMID: 17906577

Prognosis

Joseph L, May M, Thomas M, Smerdon C, Tozer S, Bialasiewicz S, McKenna R, Sargent P, Kynaston A, Heney C, Clark JE
Pediatr Infect Dis J 2019 Jan;38(1):1-5. doi: 10.1097/INF.0000000000002136. PMID: 30204658
Erkin G, Culha C, Ozel S, Kirbiyik EG
Int J Rehabil Res 2010 Sep;33(3):218-24. doi: 10.1097/MRR.0b013e3283375e10. PMID: 20216224
Chen KH, Chen CY, Hsu HC, Chen CL, Lin CH, Hsieh WC, Chen CM, Hong JP
Chang Gung Med J 2009 Nov-Dec;32(6):628-35. PMID: 20035642
Knaus A, Terjesen T
Acta Orthop 2009 Feb;80(1):32-6. doi: 10.1080/17453670902804935. PMID: 19234884Free PMC Article
Hurvitz EA, Leonard C, Ayyangar R, Nelson VS
Dev Med Child Neurol 2003 Jun;45(6):364-70. doi: 10.1017/s0012162203000707. PMID: 12785436

Clinical prediction guides

Keough JR, Irvine B, Kelly D, Wrightson J, Comaduran Marquez D, Kinney-Lang E, Kirton A
J Neuroeng Rehabil 2024 Apr 24;21(1):61. doi: 10.1186/s12984-024-01349-2. PMID: 38658998Free PMC Article
Rauf W, Sarmad S, Khan I, Jawad M
J Pak Med Assoc 2021 Mar;71(3):801-805. doi: 10.47391/JPMA.1213. PMID: 34057924
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
Álvarez Zaragoza C, Vasquez-Garibay EM, García Contreras AA, Larrosa Haro A, Romero Velarde E, Rea Rosas A, Cabrales de Anda JL, Vega Olea IF
Nutr Hosp 2019 Jul 1;36(3):517-525. doi: 10.20960/nh.2262. PMID: 30958686
Arrowsmith F, Allen J, Gaskin K, Somerville H, Clarke S, O'Loughlin E
Dev Med Child Neurol 2010 Nov;52(11):1043-7. doi: 10.1111/j.1469-8749.2010.03702.x. PMID: 20497453

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
Samijn B, Van Laecke E, Renson C, Hoebeke P, Plasschaert F, Vande Walle J, Van den Broeck C
Neurourol Urodyn 2017 Mar;36(3):541-549. Epub 2016 Feb 19 doi: 10.1002/nau.22982. PMID: 26894322

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...