MCID: SPS004
MIFTS: 39

Spastic Quadriplegia malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Spastic Quadriplegia

Aliases & Descriptions for Spastic Quadriplegia:

Name: Spastic Quadriplegia 12 52 14 69
Spastic Quadriplegic Cerebral Palsy 12 50 69
Cerebral Palsy, Quadriplegic, Infantile 69
Quadriplegic Infantile Cerebral Palsy 12
Tetraplegic Infantile Cerebral Palsy 12
Cerebral Palsy Spastic Quadriplegic 50
Spastic Quadriplegia Cerebral Palsy 50
Spastic Tetraplegia Cerebral Palsy 50
Quadriplegic Cerebral Palsy 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10970
ICD9CM 35 343.2
MeSH 42 D002547
SNOMED-CT 64 192953000 275468009
ICD10 33 G80.0
UMLS 69 C0154697

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 cerebral palsy, spastic quadriplegic, 1 and ichthyosis, spastic quadriplegia, and mental retardation, and has symptoms including muscle spasticity, opisthotonus and flaccid quadriplegia. An important gene associated with Spastic Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Carbon metabolism. The drugs Baclofen and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spinal cord, and related phenotype is nervous system.

Wikipedia : 71 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 50)
id Related Disease Score Top Affiliating Genes
1 cerebral palsy, spastic quadriplegic, 1 12.5
2 ichthyosis, spastic quadriplegia, and mental retardation 12.3
3 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.0
4 microcephaly with spastic quadriplegia 11.9
5 pelizaeus-merzbacher disease 11.2
6 inherited congenital spastic tetraplegia 10.9
7 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 10.9
8 absent eyebrows and eyelashes with mental retardation 10.9
9 ichthyosis, spastic qudraplegia and mental retardation 10.9
10 argininemia 10.9
11 immunodeficiency 49 10.9
12 cerebral palsy, spastic quadriplegic, 2 10.9
13 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 10.9
14 epileptic encephalopathy, early infantile, 5 10.9
15 mitochondrial complex ii deficiency 10.9
16 allan-herndon-dudley syndrome 10.9
17 spastic cerebral palsy 10.9
18 spasticity 10.6
19 quadriplegia 10.6
20 penttinen-aula syndrome 10.1 PLP1 SLC16A2
21 cerebritis 10.1
22 mohr-tranebjaerg syndrome 10.1 PLP1 SLC16A2
23 cerebral palsy 10.0
24 neuropathy, congenital, with arthrogryposis multiplex 10.0 SDHA SDHD
25 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.0 SDHA SDHD
26 cardiac arrest 10.0 SDHA SDHD
27 scoliosis 10.0
28 cowden syndrome 3 10.0 SDHA SDHD
29 isolated methylmalonic acidemia 9.9 SDHA SDHD
30 carotenemia 9.9 SDHA SDHD
31 microcephaly 9.9
32 ichthyosis 9.9
33 cervicitis 9.9
34 childhood type dermatomyositis 9.9 KANK1 PLP1
35 zollinger-ellison syndrome 9.9 SDHA SDHD
36 glycogen storage disease ic 9.8 SDHA SDHAF1 SDHD
37 leukodystrophy 9.7
38 down syndrome 9.7
39 congenital ichthyosiform erythroderma 9.7
40 metachromatic leukodystrophy 9.7
41 retinitis 9.7
42 duodenitis 9.7
43 neurofibromatosis 9.7
44 west syndrome 9.7
45 retinitis pigmentosa 9.7
46 intellectual disability 9.7
47 myoclonus 9.7
48 bjornstad syndrome 9.6 SDHA SDHAF1 SDHD
49 acute salpingitis 8.8 ARG1 ELOVL4 KANK1 PLP1 SDHA SDHAF1
50 prolapse of female genital organ 8.7 ARG1 ELOVL4 KANK1 PLP1 SDHA SDHAF1

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:


muscle spasticity, opisthotonus, flaccid quadriplegia

MGI Mouse Phenotypes related to Spastic Quadriplegia:

44
id 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):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 4 1134-47-0 2284
2
Acetylcholine Approved Phase 4 51-84-3 187
3 Cholinergic Agents Phase 4
4 Neuromuscular Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Peripheral Nervous System Agents Phase 4
7 abobotulinumtoxinA Phase 4
8 incobotulinumtoxinA Phase 4
9 onabotulinumtoxinA Phase 4
10 Botulinum Toxins Phase 4
11 Botulinum Toxins, Type A Phase 4
12
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Unknown status NCT00752934 Phase 4
2 Investigating Botulinum Toxin A to Treat Acute Neck/Upper Shoulder Pain Following a New Spinal Cord Injury. Completed NCT00320281 Phase 4
3 MEOPA to Improve Physical Therapy Results After Multilevel Surgery Completed NCT00632528 Phase 3
4 Study of the Impact of the Use of a Corset on the Respiratory Function of Patients With Spinal Cord Injury Withdrawn NCT01569360 Phase 3
5 The Effects of Passive Gait Training in Complete Motor Spinal Cord Injury (SCI) Completed NCT01349478 Phase 1, Phase 2
6 The Safety of ahSC in Chronic SCI With Rehabilitation Recruiting NCT02354625 Phase 1
7 Therapeutic Potential of Myofascial Structural Integration in Children With Cerebral Palsy Completed NCT01815814
8 Medico-economical Impact of the Brindley Neurosurgical Technique in France Completed NCT00221767
9 Functional Electrical Stimulation (FES) and Reconstructive Tetraplegia Hand and Arm Surgery Recruiting NCT03048331

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

Anatomical Context for Spastic Quadriplegia

MalaCards organs/tissues related to Spastic Quadriplegia:

39
Bone, Skin, Spinal Cord

Publications for Spastic Quadriplegia

Articles related to Spastic Quadriplegia:

(show all 44)
id Title Authors Year
1
Skeletal Maturation and Mineralisation of Children with Moderate to Severe Spastic Quadriplegia. ( 27504366 )
2016
2
The benefits of a comprehensive rehabilitation program in patients diagnosed with spastic quadriplegia. ( 27974931 )
2016
3
Correlations between risk factors and functional evolution in patients with spastic quadriplegia. ( 27453749 )
2016
4
Orthodontic treatment and follow-up of a patient with cerebral palsy and spastic quadriplegia. ( 27692425 )
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
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. ( 22100072 )
2011
8
A patient with altered consciousness and spastic quadriplegia. ( 21476222 )
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
Prevalence of reduced bone mass in children and adults with spastic quadriplegia. ( 12549750 )
2003
17
Proximal femoral resection for subluxation or dislocation of the hip in spastic quadriplegia. ( 12828396 )
2003
18
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. ( 12920088 )
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
Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities. ( 7619196 )
1995
24
Cost analysis of continuous intrathecal baclofen versus selective functional posterior rhizotomy in the treatment of spastic quadriplegia associated with cerebral palsy. ( 7547458 )
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
Temporomandibular joint contracture in spastic quadriplegia: effect on oral-motor skills. ( 8005359 )
1994
28
Effect of hosiery on skin temperature in spastic quadriplegia. A preliminary study. ( 8040808 )
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
Goniometric reliability for a child with spastic quadriplegia. ( 3998138 )
1985
35
Enhancement of two motor functions of the lower extremity in a child with spastic quadriplegia. ( 3966079 )
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. ( 4713989 )
1973
38
Spastic quadriplegia due to electric shock. ( 4720779 )
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

Copy number variations for Spastic Quadriplegia from CNVD:

7
id 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:

id Name GO ID Score Top Affiliating Genes
1 specific granule lumen GO:0035580 8.96 ARG1 SPTAN1
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHA SDHD

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

id Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 8.96 SDHA SDHD
2 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.62 SDHA SDHD

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.16 SDHA SDHD
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.96 SDHA SDHD
3 succinate dehydrogenase activity GO:0000104 8.62 SDHA SDHD

Sources for Spastic Quadriplegia

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