MCID: SPS004
MIFTS: 38

Spastic Quadriplegia malady

Categories: Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Spastic Quadriplegia

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Aliases & Descriptions for Spastic Quadriplegia:

Name: Spastic Quadriplegia 11 49 13 67
Spastic Quadriplegic Cerebral Palsy 11 47 67
Cerebral Palsy, Quadriplegic, Infantile 67
Quadriplegic Infantile Cerebral Palsy 11
Tetraplegic Infantile Cerebral Palsy 11
 
Spastic Quadriplegia Cerebral Palsy 47
Cerebral Palsy Spastic Quadriplegic 47
Spastic Tetraplegia Cerebral Palsy 47
Quadriplegic Cerebral Palsy 67

Classifications:



External Ids:

Disease Ontology11 DOID:10970
ICD9CM31 343.2
MeSH38 D002547
ICD1029 G80.0

Summaries for Spastic Quadriplegia

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Disease Ontology:11 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 cerebral palsy, spastic quadriplegic, 1 and ichthyosis, spastic quadriplegia, and mental retardation, and has symptoms including muscle spasticity, opisthotonus and paraplegia, flaccid. An important gene associated with Spastic Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways are Citrate cycle (TCA cycle) and Carbon metabolism. Affiliated tissues include spinal cord, bone and skin, and related mouse phenotype nervous system.

Wikipedia:70 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Related Diseases for Spastic Quadriplegia

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral palsy, spastic quadriplegic, 112.5
2ichthyosis, spastic quadriplegia, and mental retardation12.3
3spastic quadriplegia, retinitis pigmentosa, and mental retardation12.0
4microcephaly with spastic quadriplegia11.9
5pelizaeus-merzbacher disease11.2
6absent eyebrows and eyelashes with mental retardation10.9
7ichthyosis, spastic qudraplegia and mental retardation10.9
8inherited congenital spastic tetraplegia10.9
9spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome10.9
10argininemia10.9
11cerebral palsy, spastic quadriplegic, 210.9
12epileptic encephalopathy, early infantile, 510.9
13mitochondrial complex ii deficiency10.9
14allan-herndon-dudley syndrome10.9
15quadriplegia10.6
16spasticity10.6
17pelvic dysplasia arthrogryposis of lower limbs10.2PLP1, SLC16A2
18cerebritis10.1
19cerebral palsy10.0
20scoliosis10.0
21neuroendocrine carcinoma of the cervix9.9SDHA, SDHD
22paraganglioma and gastric stromal sarcoma9.9SDHA, SDHD
23microcephaly9.9
24cervicitis9.9
25lung abscess9.9SDHA, SDHD
26mercaptolactate-cysteine disulfiduria9.9SDHA, SDHD
27hidrotic ectodermal dysplasia 29.8SDHA, SDHD
28steroid-induced glaucoma9.8SDHA, SDHD
29metachromatic leukodystrophy9.7
30west syndrome9.7
31retinitis pigmentosa9.7
32leukodystrophy9.7
33down syndrome9.7
34congenital ichthyosiform erythroderma9.7
35retinitis9.7
36duodenitis9.7
37intellectual disability9.7
38myoclonus9.7
39charcot-marie-tooth disease9.6KANK1, PLP1
40endocrine gland cancer9.6SDHA, SDHD
41glycogen storage disease ib9.5SDHA, SDHAF1, SDHD
42mental retardation with spastic paraplegia9.5SDHA, SDHAF1, SDHD
43tumor predisposition syndrome9.5SDHA, SDHD
44leigh syndrome9.3SDHA, SDHAF1, SDHD
45salpingo-oophoritis7.2ARG1, ELOVL4, KANK1, PLP1, SDHA, SDHAF1
46thyroid crisis7.2ARG1, ELOVL4, KANK1, PLP1, SDHA, SDHAF1

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



Diseases related to spastic quadriplegia

Symptoms for Spastic Quadriplegia

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UMLS symptoms related to Spastic Quadriplegia:


muscle spasticity, opisthotonus, paraplegia, flaccid, flaccid quadriplegia

Drugs & Therapeutics for Spastic Quadriplegia

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BaclofenapprovedPhase 4951134-47-02284
Synonyms:
( inverted question mark)-Baclofen
(+-)-Baclofen
(+/-)- beta-(Aminoethyl)-4- chlorobenzenepropanoic acid
(+/-)-BACLOFEN
(+/-)-beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
(?)-Baclofen
1134-47-0
4-Amino-3-(4-chlorophenyl)butanoic acid
4-Amino-3-(4-chlorophenyl)butyric acid
62594-36-9
AB00051921
AC-4530
AC1L1DC6
ASTA Medica Brand of Baclofen
AWD, Baclofen
Alphapharm Brand of Baclofen
Apo Baclofen
Apo-Baclofen
ApoBaclofen
Apotex Brand of Baclofen
Ashbourne Brand of Baclofen
Athena Brand of Baclofen
Atrofen
B 5399
B3343
B5399_SIGMA
BPBio1_000012
BPBio1_000750
BRD-A84174873-001-05-2
BRN 2104494
BSPBio_000010
BSPBio_001880
Ba 34647
Ba-34,647
Ba-34647
Ba34,647
Ba34647
Baclofen (JP15/USP/INN)
Baclofen (R,S)
Baclofen AWD
Baclofen Alphapharm Brand
Baclofen Apotex Brand
Baclofen Ashbourne Brand
Baclofen Athena Brand
Baclofen Ciba-Geigy Brand
Baclofen Irex Brand
Baclofen Isis Brand
Baclofen Medtronic Brand
Baclofen Novartis Brand
Baclofen Nu-Pharm Brand
Baclofen Pharmascience Brand
Baclofen [USAN:INN:BAN:JAN]
Baclofene
Baclofene Irex
Baclofene [INN-French]
Baclofene-Irex
BaclofeneIrex
Baclofeno
Baclofeno [INN-Spanish]
Baclofenum
Baclofenum [INN-Latin]
Baclon
Baclophen
Baclospas
Benzenepropanoic acid, beta-(aminomethyl)-4-chloro-(9CI)
Biomol-NT_000251
C 34647Ba
C10H12ClNO2
CCRIS 3722
CHEBI:2972
CHEMBL701
CIBA-34,647-BA
CIBA34,647BA
CID2284
Chlorophenyl GABA
Ciba 34,647-Ba
Ciba Geigy Brand of Baclofen
Ciba-Geigy Brand of Baclofen
Clofen
D001418
D00241
DB00181
DL-4-Amino-3-P-chlorophenylbutanoic acid
DL-4-Amino-3-p-chlorophenylbutanoic acid
DL-Baclofen
 
DivK1c_000001
EINECS 214-486-9
EU-0100163
GABA, Chlorophenyl
Gabalon
Gen Baclofen
Gen-Baclofen
GenBaclofen
Genpharm
HMS1568A12
HMS1920E21
HMS2091M03
HMS500A03
I01-1934
IDI1_000001
Irex Brand of Baclofen
Isis Brand of Baclofen
KBio1_000001
KBio2_000466
KBio2_003034
KBio2_005602
KBio3_001380
KBioGR_000650
KBioSS_000466
Kemstro
Kemstro (TN)
L000002
LS-77134
Lebic
Lioresal
Lioresal (TN)
Lioresal Intrathecal
Lopac0_000163
MLS000028480
Medtronic Brand of Baclofen
MolPort-002-051-370
NCGC00015156-05
NCGC00015156-12
NCGC00023843-03
NCGC00024579-03
NCGC00024579-04
NCGC00024579-05
NCGC00024579-06
NINDS_000001
NSC329137
Novartis Brand of Baclofen
Nu Baclo
Nu Pharm Brand of Baclofen
Nu-Baclo
Nu-Baclofen
Nu-Pharm Brand of Baclofen
NuBaclo
Oprea1_440627
PCP-GABA
PMS Baclofen
PMSBaclofen
Pharmascience Brand of Baclofen
Pms-Baclofen
Prestwick0_000085
Prestwick1_000085
Prestwick2_000085
Prestwick3_000085
Prestwick_85
SMP1_000036
SMR000058294
SPBio_000044
SPBio_001949
SPECTRUM1500135
STK535284
STOCK2S-30552
Spectrum2_000092
Spectrum3_000310
Spectrum4_000245
Spectrum5_000852
Spectrum_000066
UNII-H789N3FKE8
UPCMLD-DP142
UPCMLD-DP142:001
baclofen
beta-(4-Chlorophenyl)gaba
beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
beta-(Aminomethyl)-P-chlorohydrocinnamic acid
beta-(Aminomethyl)-p-chlorohydrocinnamic acid
beta-(P-Chlorophenyl)-gamma-aminobutyric acid
beta-(p-Chlorophenyl)-gamma-aminobutyric acid
gamma-Amino-beta-(P-chlorophenyl)butyric acid
gamma-Amino-beta-(p-chlorophenyl)butyric acid
2
AcetylcholineapprovedPhase 477651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
3Peripheral Nervous System AgentsPhase 422776
4Neurotransmitter AgentsPhase 417734
5onabotulinumtoxinAPhase 4626
6Neuromuscular AgentsPhase 41129
7Cholinergic AgentsPhase 43846
8abobotulinumtoxinAPhase 4626
9Botulinum ToxinsPhase 4669
10Botulinum Toxins, Type APhase 4630
11incobotulinumtoxinAPhase 4635

Interventional clinical trials:

idNameStatusNCT IDPhase
1Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?Unknown statusNCT00752934Phase 4
2Investigating Botulinum Toxin A to Treat Acute Neck/Upper Shoulder Pain Following a New Spinal Cord Injury.CompletedNCT00320281Phase 4
3MEOPA to Improve Physical Therapy Results After Multilevel SurgeryCompletedNCT00632528Phase 3
4Study of the Impact of the Use of a Corset on the Respiratory Function of Patients With Spinal Cord InjuryWithdrawnNCT01569360Phase 3
5The Effects of Passive Gait Training in Complete Motor Spinal Cord Injury (SCI)CompletedNCT01349478Phase 1, Phase 2
6The Safety of ahSC in Chronic SCI With RehabilitationRecruitingNCT02354625Phase 1
7Therapeutic Potential of Myofascial Structural Integration in Children With Cerebral PalsyCompletedNCT01815814
8Medico-economical Impact of the Brindley Neurosurgical Technique in FranceCompletedNCT00221767

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

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Anatomical Context for Spastic Quadriplegia

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MalaCards organs/tissues related to Spastic Quadriplegia:

35
Spinal cord, Bone, Skin

Animal Models for Spastic Quadriplegia or affiliated genes

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MGI Mouse Phenotypes related to Spastic Quadriplegia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.9ARG1, ELOVL4, PLP1, SDHD, SLC16A2, SPTAN1

Publications for Spastic Quadriplegia

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Articles related to Spastic Quadriplegia:

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

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Copy number variations for Spastic Quadriplegia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12468049125800000132500000MicrodeletionSTXBP1Spastic Quadriplegia
22477059130689850130689869MicrodeletionSPTAN1Spastic Quadriplegia

Expression for genes affiliated with Spastic Quadriplegia

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Search GEO for disease gene expression data for Spastic Quadriplegia.

Pathways for genes affiliated with Spastic Quadriplegia

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Pathways related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3SDHA, SDHD
2
Show member pathways
8.9ARG1, SDHA, SDHD

GO Terms for genes affiliated with Spastic Quadriplegia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.3SDHA, SDHD

Biological processes related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:00060999.3SDHA, SDHD

Molecular functions related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:00001049.3SDHA, SDHD

Sources for Spastic Quadriplegia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet