Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Spasticity

MalaCards integrated aliases for Spasticity:

Name: Spasticity 54 29 6


Summaries for Spasticity

NINDS : 54 Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might  interfere with movement, speech, or be associated with discomfort or pain.  Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.

MalaCards based summary : Spasticity is related to primary lateral sclerosis, adult, 1 and spastic paraplegia 33, autosomal dominant. An important gene associated with Spasticity is SACS (Sacsin Molecular Chaperone). The drugs Acetylcholine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes.

Wikipedia : 75 Spasticity (from Greek spasmos-, meaning 'drawing, pulling') is a feature of altered skeletal muscle... more...

Related Diseases for Spasticity

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 primary lateral sclerosis, adult, 1 10.6 SPG7 SPAST
2 spastic paraplegia 33, autosomal dominant 10.5 SPAST REEP1
3 spastic paraplegia 61, autosomal recessive 10.5 SPAST REEP1
4 spastic paraplegia 13, autosomal dominant 10.5 WASHC5 SPAST
5 spastic paraplegia 31, autosomal dominant 10.5 SPAST REEP1
6 spastic paraplegia 18, autosomal recessive 10.5 WASHC5 REEP1
7 spastic paraplegia 47, autosomal recessive 10.5 WASHC5 REEP1
8 spastic paraplegia 39, autosomal recessive 10.5 WASHC5 REEP1
9 spastic paraplegia 12, autosomal dominant 10.5 SPAST REEP1
10 spastic paraplegia 42, autosomal dominant 10.4 WASHC5 REEP1
11 spastic paraplegia 6, autosomal dominant 10.4 SPAST REEP1
12 spastic paraplegia 7, autosomal recessive 10.4 SPG7 SACS
13 spastic paraplegia 15, autosomal recessive 10.4 TECPR2 SPG7
14 masa syndrome 10.4 SPAST REEP1
15 spastic paraplegia 8, autosomal dominant 10.4 WASHC5 REEP1
16 vitamin e, familial isolated deficiency of 10.4 SPG7 SACS
17 spastic paraplegia 49, autosomal recessive 10.4 TECPR2 SPG7
18 spastic paraplegia 3, autosomal dominant 10.3 SPAST REEP1
19 spastic paraplegia 4, autosomal dominant 10.3 SPG7 SPAST REEP1
20 spastic paraplegia 30, autosomal recessive 10.2 WASHC5 REEP1 KIF1A
21 spinocerebellar ataxia, autosomal recessive 21 10.2 SPG7 CAPN1
22 spastic ataxia 10.1 SPG7 SACS
23 spastic paraplegia 76, autosomal recessive 10.1 SPG7 CAPN1
24 spastic paraplegia 73, autosomal dominant 10.0 SPG7 CAPN1
25 neuropathy, hereditary sensory and autonomic, type iia 10.0 SACS KIF1A
26 spastic paraparesis 9.9 TECPR2 SPG7 SPAST DDHD1
27 paraplegia 9.4 WASHC5 SPG7 SPAST REEP1 KIF1A DDHD1
28 hereditary spastic paraplegia 8.7 WASHC5 SPG7 SPAST SACS REEP1 KIF1A

Graphical network of the top 20 diseases related to Spasticity:

Diseases related to Spasticity

Symptoms & Phenotypes for Spasticity

Drugs & Therapeutics for Spasticity

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

(show top 50) (show all 295)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Ethanol Approved Phase 4 64-17-5 702
Clonidine Approved Phase 4 4205-90-7 2803
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Norepinephrine Approved Phase 4 51-41-2 439260
Acetaminophen Approved Phase 4 103-90-2 1983
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
Chlorzoxazone Approved Phase 4 95-25-0 2733
13 Cholinergic Agents Phase 4
14 Acetylcholine Release Inhibitors Phase 4
15 Botulinum Toxins Phase 4
16 Botulinum Toxins, Type A Phase 4
17 Anti-Infective Agents Phase 4
18 Anti-Infective Agents, Local Phase 4
19 Sympathomimetics Phase 4
20 Cardiotonic Agents Phase 4
21 Dihydroxyphenylalanine Phase 4
22 Liver Extracts Phase 4
23 Peripheral Nervous System Agents Phase 4
24 incobotulinumtoxinA Phase 4
25 Analgesics Phase 4
26 Psychotropic Drugs Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Adrenergic Agonists Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Sympatholytics Phase 4
31 Anticonvulsants Phase 4
32 Adrenergic Agents Phase 4
33 Central Nervous System Depressants Phase 4
34 Tranquilizing Agents Phase 4
35 Anti-Anxiety Agents Phase 4
36 rimabotulinumtoxinB Phase 4
37 Excitatory Amino Acid Antagonists Phase 4
38 Excitatory Amino Acids Phase 4
39 Antimanic Agents Phase 4
40 Antidepressive Agents Phase 4
41 Neurotransmitter Uptake Inhibitors Phase 4
42 Narcotics Phase 4
43 Analgesics, Opioid Phase 4
44 Antidepressive Agents, Second-Generation Phase 4
45 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
46 Venlafaxine Hydrochloride Phase 4
47 Neuromuscular Agents Phase 4
48 Adrenocorticotropic Hormone Phase 4
49 beta-endorphin Phase 4
50 Melanocyte-Stimulating Hormones Phase 4

Interventional clinical trials:

(show top 50) (show all 741)
# Name Status NCT ID Phase Drugs
1 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
2 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
3 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
4 A Randomized Controlled Trial of Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
5 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
6 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
7 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
8 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
9 Treatment for Alcohol Dependence With Gabapentin: A Double Blind Placebo Controlled Randomized Clinical Trial Unknown status NCT02771925 Phase 4 Gabapentin 2g/day divided in two doses for 24 weeks;Placebo 2g/day divided in two doses for 24 weeks
10 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
11 Impact of Injection Techniques on the Effectiveness of Botulinum Toxin for the Treatment of Post Stroke Upper Limb Spasticity Completed NCT02757404 Phase 4 Ultrasonography guidance injection of Meditoxin®.;Electrical stimulation guidance injection of Meditoxin®.;Manual needle placement injection of Meditoxin®.
12 A Prospective, Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of MEDITOXIN® in Treatment of Post Stroke Upper Limb Spasticity Completed NCT03908580 Phase 4 Meditoxin
13 Asian Multicentre, Double Blind, Randomised, Placebo Controlled Pilot Study, to Assess the Impact of Dysport® Intramuscular Injections When Administered Within the First 12 Weeks After Stroke on the Time to Spasticity Progression in Adult Subjects With Upper Limb Spasticity. Completed NCT02321436 Phase 4 Placebo
14 A 24-week Prospective, Multicentre, Randomised, Double-blind, Placebo Controlled Study of Dysport® Injection for the Treatment of Upper Limb Spasticity in Early Stroke. Completed NCT00234546 Phase 4 Placebo
15 A Prospective Phase IV, Multicentre, Placebo-controlled Study to Demonstrate Changes in the Quality of Life Following DYSPORT Intramuscular Injection in the Treatment of Upper Limb Spasticity in Adult Post-Stroke Patients Completed NCT00216411 Phase 4 Placebo
16 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
17 Hand Rehabilitation Using Botulinum Toxin and Functional Electrical Stimulation Among Stroke Patients With Limitation of Finger Extension Due to Spasticity- Pilot Study Completed NCT03549975 Phase 4 Botulinum Toxin Type A 100 unit/Vial (Product)
18 A Multicentre, Double-blind, Randomised, Parallel Group, Placebo-controlled Study of the Effect of Long-term Treatment With Sativex on Cognitive Function and Mood of Patients With Spasticity Due to Multiple Sclerosis Completed NCT01964547 Phase 4 Sativex;Placebo
19 Vanderbilt University Spasticity Management Program Evaluation Plan Completed NCT00179114 Phase 4 Botulinum Toxin Type A;Intrathecal baclofen administered by the Medtronic SyncroMed(TM) pump (ITB)
20 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
21 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Safety and Efficacy of MEDITOXIN® in Children With Cerebral Palsy Completed NCT01256021 Phase 4 Botulinum Toxin Type A
22 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
23 A Randomized, Controlled, Open-label, Parallel-group, Multi-center Study to Compare the Effect of Intrathecal Baclofen Therapy Versus Best Medical Treatment on Severe Spasticity in Post-stroke Patients After 6 Months Active Treatment Completed NCT01032239 Phase 4 intrathecal baclofen
24 Memantine for Spasticity in MS Patients Completed NCT00638027 Phase 4 placebo;memantine
25 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
26 Placebo-Controlled Trial of BOTOX® Versus Zanaflex® for the Treatment of Subjects With Post Stroke Upper Limb Spasticity Completed NCT00430196 Phase 4 BOTOX®;Zanaflex®
27 Effects of Repeated Use of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot in Stroke Patients: A Randomized Clinical Trial Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
28 An Efficacy Comparison of Botulinum Toxin A Injection Into Two Different Sites in Gastrocnemius Muscle for the Treatment of Spastic Patients, Randomized Controlled Trial Completed NCT01278576 Phase 4 BOTOX-A®
29 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
30 A Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Incobotulinumtoxin Type A for the Functional Improvement of Lower Extremity Spasticity in Patients With Multiple Sclerosis Completed NCT01968902 Phase 4
31 An International, Multicentre, Prospective, Single-Arm Study to Assess the Effect on Voluntary Movements of AbobotulinumtoxinA 1500 U Administered in Both Upper and Lower Limbs in Conjunction With a Guided Self-Rehabilitation Contract in Adult Subjects With Spastic Hemiparesis Completed NCT02969356 Phase 4
32 Preemptive Single Dose Tizanidine and Ultrasound Guided Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4 Placebo;Tizanidine;Bupivacaine;Saline
33 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
35 Botulinum Toxin A for the Treatment of Cervical/Shoulder Pain Following Acute Spinal Cord Injury. Completed NCT00320281 Phase 4 botulinum toxin A
36 A Controlled Trial of Venlafaxine XR for Major Depression After Spinal Cord Injury: A Multi-site Study Completed NCT00592384 Phase 4 venlafaxine XR;placebo
37 Does Postoperative Gabapentin Reduce Pain, Opioid Consumption & Anxiety & Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? Completed NCT00982800 Phase 4 Gabapentin;Placebo Sugar Pill
38 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Recruiting NCT02358005 Phase 4
39 Dose-response Relationship of Botullinum Toxin (DWP 450) for Finger Flexor Spasticity Recruiting NCT03517319 Phase 4 Normal Saline 0.9% 1.2 ml;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 15 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 30 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 50 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 70 U
40 Randomised Controlled Trial to Evaluate the Effect of a Self-rehabilitation Program in Addition to Usual Treatment for Spasticity (Repeated Botulinum Toxin Injections and Physiotherapy) on Impairment and Activity Limitation in Patients With Spastic Hemiparesis Following Stroke Recruiting NCT02944929 Phase 4
41 Imaging of 3D Innervation Zone Distribution in Spastic Muscles From High-density Surface Recruiting NCT03302741 Phase 4 Botulinum neurotoxin (BTX)
42 Study of the Effects on Motor Recovery of Early Post-stroke Spasticity Treatment: Double Blinded Comparison Between Botulinum Toxin and Baclofen. Recruiting NCT02462317 Phase 4 botulinum A toxin;Baclofen;Placebo toxin;placebo baclofen
43 The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination Recruiting NCT03367429 Phase 4 Botox
44 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
45 Short and Long Term Fampridine Treatment in Persons With Multiple Sclerosis: Cognitive and Motor Performances Recruiting NCT02849782 Phase 4 Fampridine
46 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
47 Analgetic Effects of Chlorzoxazone in Total Hip and Knee Arthroplasty Active, not recruiting NCT02405104 Phase 4 chlorzoxazone;Placebo
48 Botulinum Toxin Pyloroplasty to Reduce Postoperative Nausea and Vomiting After Sleeve Gastrectomy Enrolling by invitation NCT03701919 Phase 4 Botulinum toxin pyloroplasty;Normal saline pyloric injection
49 Research Assistant Doctor Not yet recruiting NCT03860662 Phase 4 Botox;Baclofen
50 Randomised, Evaluation-blinded, Crossover, Controlled Study Assessing the Antispastic Efficacy and Safety of Dynamic Night Hand Splinting in Adults With Post-stroke Hemiplegia Treated by Botulimum Toxin (Dysport®) - (a Pilot Study) Not yet recruiting NCT02888548 Phase 4

Search NIH Clinical Center for Spasticity

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Genetic Tests for Spasticity

Genetic tests related to Spasticity:

# Genetic test Affiliating Genes
1 Spasticity 29

Anatomical Context for Spasticity

MalaCards organs/tissues related to Spasticity:

Spinal Cord, Brain, Testes, Bone, Skeletal Muscle, Cortex, T Cells

Publications for Spasticity

Articles related to Spasticity:

(show top 50) (show all 10675)
# Title Authors PMID Year
Intrathecal Drug Delivery. 38
31435916 2020
Comparison of the effects of modified constraint-induced movement therapy and intensive conventional therapy with a botulinum-a toxin injection on upper limb motor function recovery in patients with stroke. 38
31032717 2019
[Dose and efficacy of botulinum toxin in pediatric patients with spasticity]. 38
31364149 2019
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. 38
31273323 2019
Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome. 38
31302377 2019
Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B. 38
30721447 2019
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families. 38
31281085 2019
Pre- and Postoperative Gait Analysis and Video for Selective Dorsal Rhizotomy in Spastic Diplegia: 2-Dimensional Operative Video. 38
30590806 2019
Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease). 38
31351215 2019
Late recovery of responsiveness after intra-thecal baclofen pump implantation and the role of diffuse pain and severe spasticity: a case report. 38
31267188 2019
Role of the BDNF-TrkB pathway in KCC2 regulation and rehabilitation following neuronal injury: A mini review. 38
30986502 2019
Predictors of functional and motor outcomes following upper limb robot-assisted therapy after stroke. 38
30932930 2019
Upper limb impairments, process skills, and outcome in children with unilateral cerebral palsy. 38
30775778 2019
Preoperative treatment of spasticity with botulinum neurotoxin A to reduce pain in cerebral palsy: is it worthwhile? 38
30761520 2019
Impact of Ankle-Foot Orthosis on Gait Efficiency in Ambulatory Children With Cerebral Palsy: A Systematic Review and Meta-analysis. 38
30920399 2019
A single session of bihemispheric transcranial direct current stimulation does not improve quadriceps muscle spasticity in people with chronic stroke. 38
31285163 2019
Selective peripheral neurolysis using high frequency ultrasound imaging: a novel approach in the treatment of spasticity. 38
29898589 2019
Excessive short-latency stretch reflexes in the calf muscles do not cause postural instability in patients with hereditary spastic paraplegia. 38
31163363 2019
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. 38
31203368 2019
Adverse Event Profiles of High Dose Botulinum Toxin Injections for Spasticity. 38
31408270 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. 38
31231989 2019
Rapidly progressive amyotrophic lateral sclerosis is associated with microglial reactivity and small heat shock protein expression in reactive astrocytes. 38
30346063 2019
Laparoscopic fundoplication for a child with abdominal intrathecal Baclofen pump. 38
31430037 2019
Illegal cannabis use is common among Danes with multiple sclerosis. 38
31129415 2019
Dietary Therapy in Secondary Progressive Multiple Sclerosis: A Case Report. 38
31428547 2019
Transcutaneous Spinal Cord Stimulation Induces Temporary Attenuation of Spasticity in Individuals with Spinal Cord Injury. 38
31333064 2019
Imbalanced Corticospinal and Reticulospinal Contributions to Spasticity in Humans with Spinal Cord Injury. 38
31413076 2019
Application device for THC:CBD oromucosal spray in the management of resistant spasticity: pre-production testing. 38
31393179 2019
Categorisation of goals set using Goal Attainment Scaling for treatment of leg spasticity: a multicentre analysis. 38
29558228 2019
When does spasticity in the upper limb develop after a first stroke? A nationwide observational study on 861 stroke patients. 38
31088768 2019
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. 38
31418091 2019
Factors associated with pain in adolescents with bilateral cerebral palsy. 38
30508224 2019
A neuropsychological and behavioral study of PLS. 38
31134825 2019
The post-stroke upper limb improvement effort survey (IMPETUS): asurvey of individuals with chronic stroke. 38
31386604 2019
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation. 38
31388754 2019
Upper limb surgery for severe spasticity after acquired brain injury improves ease of care. 38
31403871 2019
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. 38
30963395 2019
A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene. 38
31385551 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. 38
31270756 2019
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing. 38
31104286 2019
Intrathecal baclofen therapy for treatment of spasticity in infants and small children under 6 years of age. 38
31399764 2019
[Surgical "no-touch" distraction technique to correct pediatric scoliosis]. 38
31209504 2019
Botulinum Toxin in the Management of Children with Cerebral Palsy. 38
31257556 2019
Application of upper-limb dynamic pseudoelastic splinting in the treatment of stroke chronic patient: a pilot assessment. 38
31368833 2019
Nociceptor-dependent locomotor dysfunction after clinically-modeled hindlimb muscle stretching in adult rats with spinal cord injury. 38
30880143 2019
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review. 38
31064022 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. 38
31395947 2019
Balance Impairments in Patients with Human T-Cell Lymphotropic Virus Type 1 Infection. 38
31391511 2019
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 38
31410843 2019
Effects of combining modern recovery techniques with neurotrophic medication and standard treatment in stroke patients. 38
31100563 2019

Variations for Spasticity

ClinVar genetic disease variations for Spasticity:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;inv(2)(p23q31.3) inversion Pathogenic
2 Translocation Likely pathogenic
3 KIF7 NM_198525.3(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 15:90193067-90193067 15:89649836-89649836
4 CREBBP NM_001079846.1(CREBBP): c.6071_6081del (p.Ile2024fs) deletion Likely pathogenic rs1555471098 16:3778853-3778863 16:3728852-3728862
5 REEP1 NM_001164731.2(REEP1): c.524A> G (p.Ter175Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs587781248 2:86444224-86444224 2:86217101-86217101
6 SPAST NM_014946.3(SPAST): c.1276C> T (p.Leu426Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs1060502227 2:32361662-32361662 2:32136593-32136593
7 PMP22 NM_000304.4(PMP22): c.422T> G (p.Val141Gly) single nucleotide variant Uncertain significance rs1057518804 17:15134295-15134295 17:15230978-15230978
8 CACNA1A NM_001127221.1(CACNA1A): c.6128C> T (p.Thr2043Met) single nucleotide variant Uncertain significance rs563345694 19:13323262-13323262 19:13212448-13212448
9 46;XX;inv(6)(p24q11)dn inversion Uncertain significance
10 COL6A2 NM_001849.3(COL6A2): c.2008A> G (p.Thr670Ala) single nucleotide variant Uncertain significance 21:47545737-47545737 21:46125823-46125823

Expression for Spasticity

Search GEO for disease gene expression data for Spasticity.

Pathways for Spasticity

GO Terms for Spasticity

Cellular components related to Spasticity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.8 SPG7 SPAST KIF1A

Biological processes related to Spasticity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 8.8 SPG7 SPAST KIF1A

Molecular functions related to Spasticity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 SPAST REEP1 KIF1A

Sources for Spasticity

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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