Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Spasticity

MalaCards integrated aliases for Spasticity:

Name: Spasticity 53 29 6


Summaries for Spasticity

NINDS : 53 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 spastic paraplegia 16, x-linked and hereditary spastic paraplegia 30. An important gene associated with Spasticity is SPAST (Spastin). The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and cortex, and related phenotypes are growth/size/body region and embryo

Wikipedia : 74 Spasticity (from Greek spasmos- 'drawing, pulling') is a feature of altered skeletal muscle performance... more...

Related Diseases for Spasticity

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 16, x-linked 10.4 WASHC5 SPAST
2 hereditary spastic paraplegia 30 10.3 WASHC5 SPAST
3 spastic paraplegia 33, autosomal dominant 10.3 WASHC5 SPAST
4 pontocerebellar hypoplasia, type 7 10.3 SLC2A1 MECP2
5 spastic paraplegia 57, autosomal recessive 10.3 SACS ALS2
6 spastic ataxia 4 10.3 SACS AFG3L2
7 spastic paraplegia 48, autosomal recessive 10.2 WASHC5 SPAST
8 spinocerebellar ataxia, autosomal recessive 14 10.2 SACS AFG3L2
9 spastic paraplegia 12, autosomal dominant 10.2 WASHC5 SPAST
10 spastic paraplegia 39, autosomal recessive 10.2 WASHC5 SPAST
11 electroclinical syndrome 10.2 STXBP1 SLC2A1 MECP2
12 landau-kleffner syndrome 10.2 STXBP1 MECP2
13 lennox-gastaut syndrome 10.2 STXBP1 SLC2A1 MECP2
14 spastic paraplegia 4, autosomal dominant 10.2 WASHC5 SPAST SACS ALS2
15 spastic paraplegia 6, autosomal dominant 10.1 WASHC5 SPAST
16 otopalatodigital syndrome, type i 10.1 MECP2 CREBBP
17 spastic paraplegia 2, x-linked 10.1 WASHC5 SPAST RAB9B
18 seizure disorder 10.1 STXBP1 SPAST SLC2A1 MECP2
19 congenital disorder of glycosylation, type ip 10.0 STXBP1 GRIA3
20 early myoclonic encephalopathy 10.0 STXBP1 SLC2A1 MECP2 AFG3L2
21 dentatorubral-pallidoluysian atrophy 10.0 SACS CREBBP AFG3L2
22 dravet syndrome 9.8 STXBP1 SLC2A1 MECP2
23 dystonia 9.8 SLC2A1 MECP2 GRIA3 ALS2 AFG3L2
24 west syndrome 9.7 STXBP1 SLC2A1 MTHFR MECP2 GRIA3
25 strabismus 9.6 STXBP1 SLC2A1 PMM2 KIF7
26 epilepsy 9.6 STXBP1 SLC2A1 MTHFR MECP2 GRIA3 ATP6AP2
27 hereditary spastic paraplegia 9.6 WASHC5 SPAST SLC2A1 SACS RAB9B ALS2
28 aceruloplasminemia 9.4 STXBP1 SLC2A1 PMM2 KIF7 AFG3L2
29 alacrima, achalasia, and mental retardation syndrome 9.3 STXBP1 SLC2A1 PMM2 MECP2 GRIA3 CREBBP
30 disease of mental health 8.5 STXBP1 SPAST SLC2A1 RAB9B PMM2 MTHFR
31 dystonia 9 7.8 STXBP1 SPAST SLC2A1 RAB9B PMM2 MTHFR

Graphical network of the top 20 diseases related to Spasticity:

Diseases related to Spasticity

Symptoms & Phenotypes for Spasticity

MGI Mouse Phenotypes related to Spasticity:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 AFG3L2 ALS2 CREBBP DARS1 ELOVL1 GRIA3
2 embryo MP:0005380 9.91 AFG3L2 CREBBP DARS1 KIF7 MECP2 PMM2
3 mortality/aging MP:0010768 9.83 AFG3L2 ALS2 ATP6AP2 CREBBP DARS1 ELOVL1
4 nervous system MP:0003631 9.47 AFG3L2 ALS2 ATP6AP2 CREBBP DARS1 GRIA3

Drugs & Therapeutics for Spasticity

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

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
Nitric Oxide Approved Phase 4 10102-43-9 145068
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
Baclofen Approved Phase 4 1134-47-0 2284
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
10 Dopamine Agents Phase 4
11 Antiparkinson Agents Phase 4
12 Excitatory Amino Acid Antagonists Phase 4
13 Hormones Phase 4
14 Pharmaceutical Solutions Phase 4
15 Calcium, Dietary Phase 4
16 Anti-Arrhythmia Agents Phase 4
17 Antihypertensive Agents Phase 4
18 calcium channel blockers Phase 4
19 Nutrients Phase 4
20 Micronutrients Phase 4
21 Trace Elements Phase 4
22 diuretics Phase 4
23 Vitamin B Complex Phase 4
24 Vitamins Phase 4
25 Folate Phase 4
26 isosorbide-5-mononitrate Phase 4
27 Vitamin B9 Phase 4
28 Vasodilator Agents Phase 4
29 Neurotransmitter Agents Phase 4
30 GABA Agonists Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
Tizanidine Approved, Investigational Phase 3 51322-75-9 5487
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
Phenylephrine Approved Phase 3 59-42-7 6041
4-Aminopyridine Approved Phase 3 504-24-5 1727
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
Ethanol Approved Phase 3 64-17-5 702
Peppermint Approved Phase 3
Peppermint oil Approved, Investigational Phase 3 8006-90-4
Arbaclofen placarbil Investigational Phase 3 847353-30-4
Trichostatin A Experimental Phase 3 58880-19-6
44 Nabiximols Investigational Phase 3 56575-23-6
45 Psychotropic Drugs Phase 3
46 Adrenergic alpha-Agonists Phase 3
47 Adrenergic Agents Phase 3
48 Adrenergic Agonists Phase 3
49 Parasympatholytics Phase 3
50 Protective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 573)
# Name Status NCT ID Phase Drugs
1 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
2 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) Unknown status NCT02888548 Phase 4
3 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
4 Dose-response Relationship of Botullinum Toxin (DWP 450) for Finger Flexor Spasticity Unknown status 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
5 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
6 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
7 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
8 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
9 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
10 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
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 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
13 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
14 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
15 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 (UL) Spasticity. Completed NCT02321436 Phase 4 Placebo
17 Imaging of 3D Innervation Zone Distribution in Spastic Muscles From High-density Surface Completed NCT03302741 Phase 4 Botulinum neurotoxin (BTX)
18 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
19 Placebo-Controlled Trial of BOTOX® Versus Zanaflex® for the Treatment of Subjects With Post Stroke Upper Limb Spasticity Completed NCT00430196 Phase 4 BOTOX®;Zanaflex®
20 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
21 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
22 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
23 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)
24 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®
25 Study of the Effects on Motor Recovery of Early Post-stroke Spasticity Treatment: Double Blinded Comparison Between Botulinum Toxin and Baclofen. Completed NCT02462317 Phase 4 botulinum A toxin;Baclofen;Placebo toxin;placebo baclofen
26 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
27 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
28 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
29 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
30 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)
31 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
32 Memantine for Spasticity in MS Patients Completed NCT00638027 Phase 4 placebo;memantine
33 The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination Recruiting NCT03367429 Phase 4 Botox
34 A Randomized Controlled Pilot Trial to Compare the Anti-Spastic Efficacy of Nicorandil, Diltiazem and Isosorbide Mononitrate Oral Therapy for Patients Undergoing Coronary Artery Bypass Grafting Using Radial Artery Grafts Recruiting NCT04310995 Phase 4 Nicorandil;Diltiazem Hydrochloride;Isosorbide Mononitrate 50 mg
35 The Treatment of Shoulder Pain in Hemiplegic Spastic Patients With Botulinum Toxin A Recruiting NCT04470401 Phase 4 AbobotulinumtoxinA;Saline
36 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
37 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
38 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
39 Comparison of Surface Landmark, Ultrasonography and Electric Stimulation Guidance for Botulinum Toxin Injections in Stroke Patients With Spasticity on Upper Extremities. Unknown status NCT02557737 Phase 3 Botulinum Toxin Type A
40 Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Lower Extremities Unknown status NCT02469948 Phase 3 Botulinum toxin type A
41 The Effects of Early and Late Injection of Botulinum Toxin Type A on Upper Limb Function in Patients With Stroke Unknown status NCT02580838 Phase 3 OnabotulinumtoxinA
42 A Prospective, Open Label, Single Center Study of Patients With Multiple Sclerosis With Lower Extremity Spasticity Who Are Treated With Dysport Unknown status NCT03585569 Phase 3
43 Comparison of Clinical Efficacy of Botulinum Neurotoxin Type A1 and A2 for Post-Stroke Lower Limb Spasticity: Phase 2/3 Unknown status NCT01910363 Phase 2, Phase 3 A2NTX;BOTOX
44 An Open-Label Study to Evaluate the Long-Term Safety of Arbaclofen Extended-Release Tablets in Multiple Sclerosis Patients With Spasticity (Study OS440-3005) Unknown status NCT03319732 Phase 3 Arbaclofen
45 Effect of Botulinum Toxin Injections on Motor and Functional Ability of Upper Limb in Adults at Earlier Phases of Spastic Hemiplegia After Stroke Unknown status NCT00276185 Phase 3 Time delay treatment of botulinum toxin
46 Central Effects of Botulinum Toxin: Neurophysiological Study in Stroke Patients With Spastic Lower Limb Unknown status NCT01829763 Phase 3 injection botox
47 Open-Label, Exploratory Study of the Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
48 Safety Study of SPARC1104 Completed NCT01797185 Phase 3 SPARC1104 modified dose regimen I;SPARC1104 modified dose regimen II;SPARC1104 modified dose regimen III
49 A Multicenter, Open-label, Single Dose Study of the Safety and Efficacy of GSK1358820 (Botulinum Toxin Type A) in Chinese Subjects With Post-stroke Focal Upper Limb Spasticity Completed NCT01205451 Phase 3 Botulinum toxin type A
50 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Chinese Subjects With Post-stroke Upper Limb Spasticity Completed NCT01153815 Phase 3 GSK1358820(Botulinum toxin type A);placebo

Search NIH Clinical Center for Spasticity

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, Skeletal Muscle, Cortex, Brain, Cerebellum, Bone Marrow, Bone

Publications for Spasticity

Articles related to Spasticity:

(show top 50) (show all 11639)
# Title Authors PMID Year
Suicide transport blockade of motor neuron survival generates a focal graded injury and functional deficit. 61
33318406 2021
Auditory impairment in H-ABC tubulinopathy. 61
32681585 2021
Aquatic therapy in stroke rehabilitation: systematic review and meta-analysis. 61
33141446 2021
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. 61
33236446 2021
Comparing short-term outcomes between conus medullaris and cauda equina surgical techniques of selective dorsal rhizotomy. 61
33103255 2021
The Time Course of Onset and Peak Effects of Phenol Neurolysis. 61
33595939 2021
Determinants of estimated failure load in the distal radius after stroke: An HR-pQCT study. 61
33359893 2021
A new convenient methodology based on dihydropyridine derivative for selective fluorimetric analysis of baclofen: Application to spiked urine and content uniformity evaluation. 61
33223435 2021
Intrathecal baclofen pump exchange in multiple sclerosis. Factors affecting baclofen efficacy and dose adjustement. A case report. 61
32307152 2021
Hereditary spastic paraplegia. 61
33439395 2021
Orthopaedic approach to the congenital Zika syndrome. 61
33191452 2021
Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity. 61
33290383 2021
A Nepalese family with an REEP2 mutation: clinical and genetic study. 61
33526816 2021
Diagnostic and severity scores for Cockayne syndrome. 61
33536051 2021
Effects of dry needling on post-stroke brain activity and muscle spasticity of the upper limb: a case report. 61
32529885 2021
Electroacupuncture for patients with spasticity after stroke: A protocol for systematic review and meta-analysis. 61
33607860 2021
Detection of symptoms of late complications after stroke in young survivors with active surveillance versus usual care. 61
33605166 2021
Viability of using a computer tablet to monitor an upper limb home exercise program in stroke. 61
31172867 2021
Comparison of Two Clinical Upper Motor Neuron Burden Rating Scales in ALS Using Quantitative Brain Imaging. 61
33576234 2021
[Three years of cannabis as medicine-preliminary results of the survey accompanying the prescription of medical cannabis in Germany]. 61
33564897 2021
Instituting an Intrathecal Baclofen Pump Program at an Academic Institution. 61
33543576 2021
A comprehensive toxicity evaluation in rats after long-term oral Gelsemium elegans exposure. 61
33561641 2021
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. 61
33553620 2021
Is Dry Needling Effective for the Management of Spasticity, Pain, and Motor Function in Post-Stroke Patients? A Systematic Review and Meta-Analysis. 61
33338222 2021
Cannabis: A Toxin-Producing Plant with Potential Therapeutic Uses. 61
33562446 2021
[MDVI patients - Multiply disabled visually impaired : On the situation of the child, parents and ophthalmologist with MDVI children]. 61
33443625 2021
Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics. 61
33484186 2021
Utilization of health care providers by individuals with chronic spinal cord injury. 61
33597748 2021
Cannabinoids and an anti-inflammatory diet for the treatment of neuropathic pain after spinal cord injury (The CATNP Study): study protocol for a randomized controlled trial. 61
32612213 2021
Cannabinoids in Neurologic Illnesses. 61
33223086 2021
Safety and efficacy of low-dose medical cannabis oils in multiple sclerosis. 61
33387864 2021
Comorbidities contribute substantially to the severity of common multiple sclerosis symptoms. 61
32876720 2021
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. 61
33553621 2021
Recent progresses and remaining challenges for the detection of Zika virus. 61
33559917 2021
Highly Selective Partial Neurectomy for Lower-Extremity Spasticity: 2-Dimensional Operative Video. 61
33582808 2021
Predictors of postoperative complications after selective dorsal rhizotomy. 61
32691268 2021
Ankle contractures are frequent among children with cerebral palsy and associated with lower gross motor function and degree of spasticity. 61
33565134 2021
Hip Displacement in Cerebral Palsy: The Role of Surveillance. 61
33569095 2021
Robotic lower extremity exoskeleton use in a non-ambulatory child with cerebral palsy: a case study. 61
33539714 2021
Short and Long-Term Effects of Whole-Body Vibration on Spaticity and Motor Performance in Children With Hemiparetic Cerebral Palsy. 61
33535899 2021
Leisure-time physical activity interventions for children and adults with cerebral palsy: a scoping review. 61
33241561 2021
The effect of GMFCS level, age, sex, and dystonia on multi-dimensional outcomes after selective dorsal rhizotomy: prospective observational study. 61
33599808 2021
The role of selective dorsal rhizotomy in the management of post-traumatic spasticity: systematic review. 61
32020384 2021
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia. 61
33607528 2021
Immunogenicity to Botulinum Toxin Type A: A Systematic Review With Meta-Analysis Across Therapeutic Indications. 61
33528495 2021
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H. 61
33246395 2021
Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11. 61
32885726 2021
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial. 61
33595142 2021
Intrathecal Baclofen Pump Infection With Meningitis: Effective Treatment by Radical Debridement and Intrareservoir Baclofen-Vancomycin Co-Infusion. 61
33538029 2021
Clinical effects of intrathecal administration of expanded Wharton jelly mesenchymal stromal cells in patients with chronic complete spinal cord injury: a randomized controlled study. 61
32981857 2021

Variations for Spasticity

ClinVar genetic disease variations for Spasticity:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTHFR NM_005957.5(MTHFR):c.1588_1590AAG[1] (p.Lys531del) Microsatellite Pathogenic 873153 1:11852374-11852376 1:11792317-11792319
2 SPAST NM_014946.4(SPAST):c.1276C>T SNV Pathogenic 448444 rs1060502227 2:32361662-32361662 2:32136593-32136593
3 STXBP1 NM_001032221.6(STXBP1):c.116_118dup (p.Arg39dup) Duplication Pathogenic 633836 rs1588294498 9:130416019-130416020 9:127653740-127653741
4 AFG3L2 NM_006796.3(AFG3L2):c.1385C>T SNV Pathogenic 973107 rs912546325 18:12351346-12351346 18:12351347-12351347
5 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
6 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
7 ALS2 NC_000002.12:g.201705201del Deletion Likely pathogenic 812988 rs1574655402 2:202569923-202569923 2:201705200-201705200
8 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) SNV Likely pathogenic 625211 rs780680047 X:122613916-122613916 X:123480065-123480065
9 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
10 CREBBP NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs) Deletion Likely pathogenic 523472 rs1555471098 16:3778853-3778863 16:3728852-3728862
11 HPD NM_002150.3(HPD):c.1049T>C (p.Val350Ala) SNV Likely pathogenic 812775 rs1592913789 12:122277860-122277860 12:121839954-121839954
12 RAB9B NM_000533.5(PLP1):c.25A>T (p.Arg9Ter) SNV Likely pathogenic 981179 X:103040531-103040531 X:103785602-103785602
13 PMP22 NM_000304.4(PMP22):c.422T>G (p.Val141Gly) SNV Uncertain significance 373965 rs1057518804 17:15134295-15134295 17:15230978-15230978
14 REEP1 NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) SNV Uncertain significance 242633 rs587781248 2:86444224-86444224 2:86217101-86217101
15 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain significance 386521 rs563345694 19:13323262-13323262 19:13212448-13212448
16 COL6A2 NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala) SNV Uncertain significance 598977 rs753298014 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 synapse GO:0045202 9.1 SLC2A1 MTHFR MECP2 GRIA3 DARS1 ATP6AP2

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

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.33 SPAST ALS2 AFG3L2
2 response to hypoxia GO:0001666 9.26 SLC2A1 MTHFR MECP2 CREBBP
3 protein-containing complex assembly GO:0065003 8.92 SLC2A1 DARS1 CREBBP AFG3L2

Sources for Spasticity

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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