MCID: SPS004
MIFTS: 34

Spastic Quadriplegia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Spastic Quadriplegia

MalaCards integrated aliases for Spastic Quadriplegia:

Name: Spastic Quadriplegia 12 51 14 69
Spastic Quadriplegic Cerebral Palsy 12 49 69
Cerebral Palsy, Quadriplegic, Infantile 69
Quadriplegic Infantile Cerebral Palsy 12
Tetraplegic Infantile Cerebral Palsy 12
Cerebral Palsy Spastic Quadriplegic 49
Spastic Quadriplegia Cerebral Palsy 49
Spastic Tetraplegia Cerebral Palsy 49
Quadriplegic Cerebral Palsy 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10970
ICD9CM 34 343.2
MeSH 41 D002547
SNOMED-CT 64 192953000 275468009
ICD10 32 G80.0

Summaries for Spastic Quadriplegia

Disease Ontology : 12 A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.

MalaCards based summary : Spastic Quadriplegia, also known as spastic quadriplegic cerebral palsy, is related to pelizaeus-merzbacher disease and mitochondrial complex ii deficiency, and has symptoms including opisthotonus and muscle spasticity. An important gene associated with Spastic Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4). The drug Baclofen has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotype is nervous system.

Wikipedia : 72 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Related Diseases for Spastic Quadriplegia

Diseases related to Spastic Quadriplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 31.9 PLP1 SLC16A2
2 mitochondrial complex ii deficiency 30.9 SDHAF1 SDHD
3 cerebral palsy 29.8 KANK1 PLP1
4 quadriplegia 28.6 ELOVL4 KANK1 PLP1 SDHD SLC16A2 SPTAN1
5 cerebral palsy, spastic quadriplegic, 1 12.6
6 ichthyosis, spastic quadriplegia, and mental retardation 12.4
7 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.1
8 microcephaly with spastic quadriplegia 12.1
9 absent eyebrows and eyelashes with mental retardation 11.6
10 microcephaly, seizures, spasticity, and brain calcifications 11.0
11 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.0
12 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 11.0
13 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 11.0
14 inherited congenital spastic tetraplegia 11.0
15 argininemia 11.0
16 allan-herndon-dudley syndrome 11.0
17 cerebral palsy, spastic quadriplegic, 2 11.0
18 epileptic encephalopathy, early infantile, 5 11.0
19 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.0
20 immunodeficiency 49 11.0
21 epileptic encephalopathy, early infantile, 53 11.0
22 encephalocele 11.0
23 spasticity 10.6
24 cerebritis 10.2
25 pelizaeus-merzbacher-like disease 10.1 PLP1 SLC16A2
26 spastic cerebral palsy 10.1 PLP1 SLC16A2
27 alacrima, achalasia, and mental retardation syndrome 10.1
28 scoliosis 10.1
29 microcephaly 10.0
30 ichthyosis 10.0
31 cervicitis 10.0
32 neurofibromatosis, type iv, of riccardi 9.8
33 down syndrome 9.8
34 metachromatic leukodystrophy 9.8
35 retinitis pigmentosa 9.8
36 aging 9.8
37 leber congenital amaurosis 4 9.8
38 episodic pain syndrome, familial, 1 9.8
39 arthrogryposis multiplex congenita, neurogenic, with myelin defect 9.8
40 west syndrome 9.8
41 ichthyosis lamellar 1 9.8
42 leukodystrophy 9.8
43 congenital ichthyosiform erythroderma 9.8
44 epilepsy 9.8
45 retinitis 9.8
46 duodenitis 9.8
47 myoclonus 9.8
48 kearns-sayre syndrome 9.4 SDHAF1 SDHD

Graphical network of the top 20 diseases related to Spastic Quadriplegia:



Diseases related to Spastic Quadriplegia

Symptoms & Phenotypes for Spastic Quadriplegia

UMLS symptoms related to Spastic Quadriplegia:


opisthotonus, muscle spasticity

MGI Mouse Phenotypes related to Spastic Quadriplegia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 ARG1 ELOVL4 PLP1 SDHD SLC16A2 SPTAN1

Drugs & Therapeutics for Spastic Quadriplegia

Drugs for Spastic Quadriplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 4 1134-47-0 2284

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Unknown status NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

Anatomical Context for Spastic Quadriplegia

MalaCards organs/tissues related to Spastic Quadriplegia:

38
Bone, Skin, Brain, Spinal Cord

Publications for Spastic Quadriplegia

Articles related to Spastic Quadriplegia:

(show all 47)
# Title Authors Year
1
Correspondence: Skeletal Maturation and Mineralization of Children with Moderate to Severe Spastic Quadriplegia. ( 28571225 )
2017
2
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. ( 29254829 )
2017
3
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. ( 28503735 )
2017
4
The benefits of a comprehensive rehabilitation program in patients diagnosed with spastic quadriplegia. ( 27974931 )
2016
5
Correlations between risk factors and functional evolution in patients with spastic quadriplegia. ( 27453749 )
2016
6
Orthodontic treatment and follow-up of a patient with cerebral palsy and spastic quadriplegia. ( 27692425 )
2016
7
Skeletal Maturation and Mineralisation of Children with Moderate to Severe Spastic Quadriplegia. ( 27504366 )
2016
8
Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection. ( 24715871 )
2014
9
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia. ( 22639992 )
2012
10
A patient with altered consciousness and spastic quadriplegia. ( 21476222 )
2011
11
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. ( 22100072 )
2011
12
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. ( 20493457 )
2010
13
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. ( 19453595 )
2009
14
Effect of nutritional support in children with spastic quadriplegia. ( 18940556 )
2008
15
Etiologic profile of spastic quadriplegia in children. ( 18358417 )
2008
16
Proximal femoral resection and articulated hip distraction with an external fixator for the treatment of painful spastic hip dislocations in pediatric patients with spastic quadriplegia. ( 18043374 )
2008
17
Etiologic profile of spastic quadriplegia in children. ( 17765809 )
2007
18
Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump. ( 18007255 )
2007
19
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. ( 12920088 )
2003
20
Proximal femoral resection for subluxation or dislocation of the hip in spastic quadriplegia. ( 12828396 )
2003
21
Prevalence of reduced bone mass in children and adults with spastic quadriplegia. ( 12549750 )
2003
22
Pictorial CME. Spastic quadriplegia due to cervical cord compression. ( 11924575 )
2002
23
Spasticity management in the child with spastic quadriplegia. ( 11851741 )
2001
24
Resolution: a 15-year-old with spastic quadriplegia and a 60 degree scoliosis should have a posterior spinal fusion with instrumentation. The American Academy for Cerebral Palsy and Developmental Medicine 50th anniversary meeting debate. ( 9593501 )
1998
25
Bone density and other possible predictors of fracture risk in children and adolescents with spastic quadriplegia. ( 9183259 )
1997
26
Cost analysis of continuous intrathecal baclofen versus selective functional posterior rhizotomy in the treatment of spastic quadriplegia associated with cerebral palsy. ( 7547458 )
1995
27
Changes in hip migration after selective dorsal rhizotomy for spastic quadriplegia in cerebral palsy. ( 7897515 )
1995
28
Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities. ( 7619196 )
1995
29
Selective intrathecal phenol block to improve activities of daily living in patients with spastic quadriplegia. A preliminary report. ( 7970851 )
1994
30
Effect of hosiery on skin temperature in spastic quadriplegia. A preliminary study. ( 8040808 )
1994
31
Temporomandibular joint contracture in spastic quadriplegia: effect on oral-motor skills. ( 8005359 )
1994
32
Spastic quadriplegia in Western Australia. II: Pedigrees and family patterns of birthweight and gestational age. ( 8462754 )
1993
33
Spastic quadriplegia in Western Australia: a genetic epidemiological study. I: Case population and perinatal risk factors. ( 8385035 )
1993
34
Decrease in gastric emptying time and episodes of regurgitation in children with spastic quadriplegia fed a whey-based formula. ( 1552396 )
1992
35
Energy and nutrient intakes of children with spastic quadriplegia. ( 1960614 )
1991
36
Upper extremity inhibitive casting in a boy with spastic quadriplegia. ( 2353723 )
1990
37
Goniometric reliability for a child with spastic quadriplegia. ( 3998138 )
1985
38
Enhancement of two motor functions of the lower extremity in a child with spastic quadriplegia. ( 3966079 )
1985
39
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. ( 589850 )
1977
40
Spastic quadriplegia due to electric shock. ( 4713989 )
1973
41
Spastic quadriplegia due to electric shock. ( 4720779 )
1973
42
Progressive spastic quadriplegia. ( 5978124 )
1966
43
Spastic quadriplegia in a case of generalized neurofibromatosis. ( 4955595 )
1966
44
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. ( 13594021 )
1958
45
Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. ( 13394671 )
1957
46
The association of congenital spastic quadriplegia and androgenic precocity in four patients. ( 15436558 )
1950
47
Case of Spastic Quadriplegia following Injury of the Spinal Cord in the Upper Cervical Region, showing certain unusual Reflex Phenomena. ( 19981155 )
1920

Variations for Spastic Quadriplegia

Copy number variations for Spastic Quadriplegia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246804 9 125800000 132500000 Microdeletion STXBP1 Spastic Quadriplegia
2 247705 9 130689850 130689869 Microdeletion SPTAN1 Spastic Quadriplegia

Expression for Spastic Quadriplegia

Search GEO for disease gene expression data for Spastic Quadriplegia.

Pathways for Spastic Quadriplegia

GO Terms for Spastic Quadriplegia

Cellular components related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 specific granule lumen GO:0035580 8.62 ARG1 SPTAN1

Sources for Spastic Quadriplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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