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 72. An important gene associated with Spasticity is PMM2 (Phosphomannomutase 2), and among its related pathways/superpathways is Neuroscience. The drugs Acetylcholine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 16, x-linked 10.5 WASHC5 SPAST
2 hereditary spastic paraplegia 72 10.5 SPAST REEP1
3 neuropathy, hereditary sensory, type iic 10.5 REEP1 KIF1A
4 spastic ataxia 2 10.5 REEP1 KIF1A
5 spastic paraplegia 32, autosomal recessive 10.5 WASHC5 SPG7
6 spastic paraplegia 5a, autosomal recessive 10.5 SPG7 SPAST
7 spastic paraplegia 37, autosomal dominant 10.5 WASHC5 REEP1
8 distal hereditary motor neuronopathy type 7 10.5 REEP1 ALS2
9 spinocerebellar ataxia, autosomal recessive 14 10.5 SPG7 SACS
10 spastic paraplegia 61, autosomal recessive 10.5 SPAST REEP1
11 spastic paraplegia 49, autosomal recessive 10.4 TECPR2 DDHD1
12 spastic paraplegia 47, autosomal recessive 10.4 WASHC5 REEP1
13 primary lateral sclerosis, adult, 1 10.4 SPG7 SPAST ALS2
14 spastic paraplegia 33, autosomal dominant 10.4 WASHC5 SPAST REEP1
15 spastic paraplegia 48, autosomal recessive 10.4 WASHC5 SPAST REEP1
16 autosomal dominant non-syndromic intellectual disability 9 10.4 TECPR2 REEP1 KIF1A
17 spastic paraplegia 12, autosomal dominant 10.4 WASHC5 SPAST REEP1
18 spastic paraplegia 42, autosomal dominant 10.4 WASHC5 SPAST REEP1
19 autosomal recessive distal hereditary motor neuronopathy 10.4 REEP1 ALS2
20 spastic paraplegia 17, autosomal dominant 10.4 WASHC5 SPAST REEP1
21 spastic paraplegia 35, autosomal recessive 10.4 WASHC5 SPG7 REEP1
22 spastic paraplegia 3, autosomal dominant 10.4 WASHC5 SPAST REEP1
23 spastic paraplegia 39, autosomal recessive 10.4 WASHC5 SPAST DDHD1
24 spastic paraplegia 54, autosomal recessive 10.4 SPG7 REEP1 DDHD1
25 spastic paraplegia 73, autosomal dominant 10.4 REEP1 DDHD1
26 spastic paraplegia 7, autosomal recessive 10.4 SPG7 SACS
27 spastic paraplegia 28, autosomal recessive 10.4 REEP1 DDHD1
28 spinocerebellar ataxia 38 10.4 SACS ELOVL1
29 spastic paraplegia 56, autosomal recessive 10.4 SPG7 DDHD1
30 spastic paraplegia 46, autosomal recessive 10.4 SPG7 SPAST
31 hereditary spastic paraplegia 30 10.4 WASHC5 SPAST REEP1 KIF1A
32 spastic paraplegia 31, autosomal dominant 10.4 WASHC5 SPG7 SPAST REEP1
33 spastic paraplegia 15, autosomal recessive 10.3 WASHC5 SPG7 SPAST REEP1
34 spastic paraplegia 57, autosomal recessive 10.3 SACS REEP1 KIF1A ALS2
35 spastic paraplegia 6, autosomal dominant 10.3 WASHC5 SPG7 SPAST REEP1
36 spastic paraplegia 8, autosomal dominant 10.3 WASHC5 SPG7 SPAST REEP1
37 spastic paraplegia 11, autosomal recessive 10.3 SPG7 SPAST
38 spastic paraplegia 2, x-linked 10.3 WASHC5 SPG7 SPAST REEP1
39 spastic paraplegia 13, autosomal dominant 10.3 SPG7 SPAST REEP1 DDHD1
40 spastic paraplegia 18, autosomal recessive 10.3 WASHC5 SPG7 REEP1 DDHD1
41 spastic ataxia 10.3 SPG7 SACS KIF1A CAPN1
42 spastic paraplegia 43, autosomal recessive 10.3 WASHC5 SPAST
43 spastic paraplegia 10, autosomal dominant 10.3 WASHC5 SPG7 SPAST REEP1 KIF1A
44 masa syndrome 10.3 WASHC5 SPG7 SPAST REEP1 KIF1A
45 spastic paraplegia 26, autosomal recessive 10.2 SPAST REEP1
46 spastic paraparesis 10.2 TECPR2 SPG7 SPAST KIF1A DDHD1
47 spastic paraplegia 4, autosomal dominant 10.1 WASHC5 SPG7 SPAST REEP1 KIF1A ALS2
48 hereditary ataxia 10.0 SPG7 SACS CAPN1
49 spastic paraplegia 20, autosomal recessive 10.0 SPG7 SPAST
50 visual epilepsy 10.0 STXBP1 SPG7 SPAST SLC2A1

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 behavior/neurological MP:0005386 10 ALS2 GRIA3 KIF1A PLAA REEP1 SLC2A1
2 growth/size/body region MP:0005378 9.97 ALS2 DARS1 DDHD1 ELOVL1 GRIA3 KIF1A
3 mortality/aging MP:0010768 9.77 ALS2 ATP6AP2 CAPN1 DARS1 ELOVL1 GRIA3
4 nervous system MP:0003631 9.47 ALS2 ATP6AP2 DARS1 GRIA3 KIF1A KIF7

Drugs & Therapeutics for Spasticity

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

(show top 50) (show all 273)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Norepinephrine Approved Phase 4 51-41-2 439260
Chlorzoxazone Approved Phase 4 95-25-0 2733
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
Acetaminophen Approved Phase 4 103-90-2 1983
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
Nitric Oxide Approved Phase 4 10102-43-9 145068
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
AT-101 Approved, Investigational Phase 4 652-67-5, 90141-22-3 12597
Ethanol Approved Phase 4 64-17-5 702
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
16 Cholinergic Agents Phase 4
17 Dihydroxyphenylalanine Phase 4
18 incobotulinumtoxinA Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Parasympatholytics Phase 4
21 Adrenergic Agents Phase 4
22 Adrenergic Agonists Phase 4
23 Analgesics Phase 4
24 rimabotulinumtoxinB Phase 4
25 Psychotropic Drugs Phase 4
26 Antidepressive Agents Phase 4
27 Analgesics, Opioid Phase 4
28 Venlafaxine Hydrochloride Phase 4
29 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
30 Anti-Arrhythmia Agents Phase 4
31 Calcium, Dietary Phase 4
32 calcium channel blockers Phase 4
33 Potassium Channel Blockers Phase 4
34 Trace Elements Phase 4
35 Micronutrients Phase 4
36 Vitamins Phase 4
37 Nutrients Phase 4
38 Vasodilator Agents Phase 4
39 diuretics Phase 4
40 isosorbide-5-mononitrate Phase 4
41 Anticonvulsants Phase 4
42 Anti-Anxiety Agents Phase 4
43 Excitatory Amino Acid Antagonists Phase 4
44 Adrenocorticotropic Hormone Phase 4
45 Melanocyte-Stimulating Hormones Phase 4
46 beta-Endorphin Phase 4
47 Liver Extracts Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Calcium Nutraceutical Phase 4 7440-70-2 271
Phenylephrine Approved Phase 3 59-42-7 6041

Interventional clinical trials:

(show top 50) (show all 841)
# Name Status NCT ID Phase Drugs
1 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
2 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
3 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
4 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
5 Imaging of 3D Innervation Zone Distribution in Spastic Muscles From High-density Surface Unknown status NCT03302741 Phase 4 Botulinum neurotoxin (BTX)
6 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
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 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
9 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
10 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
11 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
12 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
13 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®.
14 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
15 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
16 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
17 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
18 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
19 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)
20 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
21 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)
22 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
23 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
24 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
25 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
26 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)
27 Placebo-Controlled Trial of BOTOX® Versus Zanaflex® for the Treatment of Subjects With Post Stroke Upper Limb Spasticity Completed NCT00430196 Phase 4 BOTOX®;Zanaflex®
28 Memantine for Spasticity in MS Patients Completed NCT00638027 Phase 4 placebo;memantine
29 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
30 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®
31 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
32 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
33 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
34 Preemptive Single Dose Tizanidine and Ultrasound Guided Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4 Placebo;Tizanidine;Bupivacaine;Saline
35 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
37 Botulinum Toxin A for the Treatment of Cervical/Shoulder Pain Following Acute Spinal Cord Injury. Completed NCT00320281 Phase 4 botulinum toxin A
38 A Controlled Trial of Venlafaxine XR for Major Depression After Spinal Cord Injury: A Multi-site Study Completed NCT00592384 Phase 4 venlafaxine XR;placebo
39 Analgetic Effects of Chlorzoxazone in Total Hip and Knee Arthroplasty Completed NCT02405104 Phase 4 chlorzoxazone;Placebo
40 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
41 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Recruiting NCT02358005 Phase 4
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 Evaluation of Initiation Time on the Efficacy of Gabapentin in Treating Neuropathic Pain in Spinal Cord Injury (SCI) Recruiting NCT04256603 Phase 4 Gabapentin
44 The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination Recruiting NCT03367429 Phase 4 Botox
45 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
46 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
47 Short and Long Term Fampridine Treatment in Persons With Multiple Sclerosis: Cognitive and Motor Performances Recruiting NCT02849782 Phase 4 Fampridine
48 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
49 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
50 Research Assistant Doctor Not yet recruiting NCT03860662 Phase 4 Botox;Baclofen

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, Brain, Testes, Bone, Skeletal Muscle, Cortex, Skin

Publications for Spasticity

Articles related to Spasticity:

(show top 50) (show all 11209)
# Title Authors PMID Year
Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish. 61
32529115 2020
Clinical and functional outcomes of total hip arthroplasty in patients with cerebral palsy: A systematic review. 61
32071528 2020
Submuscular Placement of Baclofen Infusion Pumps: Case Series and Technique. 61
32149846 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. 61
32279304 2020
Waggle needling wields preferable neuroprotective and anti-spastic effects on post-stroke spasticity rats by attenuating γ-aminobutyric acid transaminase and enhancing γ-aminobutyric acid. 61
32453018 2020
Effects of spasticity and hemiplegic posture on median nerve and carpal tunnel in stroke patients: Electrophysiological and ultrasonographic evaluation. 61
32417126 2020
Alteration of glycinergic receptor expression in lumbar spinal motoneurons is involved in the mechanisms underlying spasticity after spinal cord injury. 61
32339654 2020
Short-term effect of a close-fitting type of walking assistive device on spinal cord reciprocal inhibition. 61
32386864 2020
Selective dorsal rhizotomy for spasticity of genetic etiology. 61
32300873 2020
Overlapping neuropathological findings in an asymptomatic SPAST gene mutation carrier. 61
32213280 2020
Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution. 61
32539291 2020
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. 61
32096284 2020
Clinical Data for the Use of Cannabis-Based Treatments: A Comprehensive Review of the Literature. 61
32483988 2020
Long term outcome of Selective Dorsal Rhizotomy for the management of childhood spasticity-functional improvement and complications. 61
32577879 2020
Frequency distribution in intraoperative stimulation-evoked EMG responses during selective dorsal rhizotomy in children with cerebral palsy-part 1: clinical setting and neurophysiological procedure. 61
32577878 2020
Efficacy of radial extracorporeal shock wave therapy compared with botulinum toxin type A injection in treatment of lower extremity spasticity in subjects with cerebral palsy: A randomized, controlled, cross-over study. 61
32556354 2020
Facts and de facto treatment of spasticity. 61
32568127 2020
Cannabis extract for the treatment of painful tonic spasms in a patient with neuromyelitis optica spectrum disorder: A case report. 61
32559701 2020
Baclofen pump with pre-brainstem catheter tip placement: technical note and case series. 61
32504173 2020
A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report. 61
32280793 2020
Children with uncontrolled asthma and significant reversibility might show hypoxaemia. 61
32020332 2020
Dose-response of rPMS for upper Limb hemiparesis after stroke. 61
32541528 2020
Predictors of Arm Nonuse in Chronic Stroke: A Preliminary Investigation. 61
32476616 2020
Resistance training in stroke rehabilitation: systematic review and meta-analysis. 61
32527148 2020
Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature. 61
32310012 2020
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction. 61
32240828 2020
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. 61
32518176 2020
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling. 61
32506993 2020
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. 61
32242326 2020
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. 61
32157189 2020
The anti-spasmodic effect of peppermint oil during colonoscopy: a systematic review and meta-analysis. 61
31994371 2020
Healing hand ulcers caused by focal spasticity. 61
32135027 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. 61
32099069 2020
Effect of Action Observation Training on Spasticity, Gross Motor Function, and Balance in Children with Diplegia Cerebral Palsy. 61
32570855 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child. 61
32181496 2020
Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications. 61
32548670 2020
Use of Shear Wave Elastography for Quantitative Assessment of Muscle Stiffness After Botulinum Toxin Injection in Children With Cerebral Palsy. 61
32488891 2020
Botulinum Toxin Type A for Upper Limb Spasticity in Poststroke Patients: A Meta-analysis of Randomized Controlled Trials. 61
32305277 2020
Modified PRISM and SCI-SET Spasticity Measures for Persons with Traumatic Spinal Cord Injury: Results of a Rasch Analyses. 61
32497601 2020
The effects of different injection techniques of botulinum toxin a in post-stroke patients with plantar flexor spasticity. 61
29978276 2020
Effects of dry needling on post-stroke brain activity and muscle spasticity of the upper limb: a case report. 61
32529885 2020
Practice patterns of physicians using adjunct therapies with botulinum toxin injection for spasticity: a Canadian multicenter cross-sectional survey. 61
32578339 2020
Sensory interventions on motor function, activities of daily living, and spasticity of the upper limb in people with stroke: A randomized clinical trial. 61
32565102 2020
Abobotulinumtoxina injections in shoulder muscles to improve adult upper limb spasticity: Results from a phase 4 real-world study and a phase 3 open-label trial. 61
32451555 2020
A synthesis and appraisal of clinical practice guidelines, consensus statements and Cochrane systematic reviews for the management of focal spasticity in adults and children. 61
32503375 2020
Efficacy and safety of MT10107 (Coretox®) in post-stroke upper limb spasticity treatment: A randomized, double-blind, active drug-controlled, multi-center, phase III clinical trial. 61
32497599 2020
The effectiveness of extracorporeal shock wave therapy for improving upper limb spasticity and functionality in stroke patients: a systematic review and meta-analysis. 61
32513019 2020
Cost effectiveness and impact on quality of life of abobotulinumtoxinA and onabotulinumtoxinA in the treatment of children with lower limb spasticity in Canada. 61
31985313 2020
Erratum to 'Spasticity and Range of Motion Over Time in Stroke Patients Who Received Multiple-Dose Botulinum Toxin Therapy' [Journal of Stroke and Cerebrovascular Diseases, Vol. 29, No. 1 (January), 2020: 104481]. 61
32171625 2020
Mathematical model of patella T-reflex and clinical evaluation with Ashworth scales. 61
32549130 2020

Variations for Spasticity

ClinVar genetic disease variations for Spasticity:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)SNV Pathogenic 625211 X:122613916-122613916 X:123480065-123480065
2 STXBP1 NM_001032221.6(STXBP1):c.116_118dup (p.Arg39dup)duplication Pathogenic 633836 9:130416019-130416020 9:127653740-127653741
3 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
4 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
5 46;XX;inv(2)(p23q31.3)inversion Pathogenic 267874
6 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
7 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dnTranslocation Likely pathogenic 267905
8 CREBBP NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)deletion Likely pathogenic 523472 rs1555471098 16:3778853-3778863 16:3728852-3728862
9 ALS2 NC_000002.12:g.201705201deldeletion Likely pathogenic 812988 2:202569923-202569923 2:201705200-201705200
10 HPD NM_002150.3(HPD):c.1049T>C (p.Val350Ala)SNV Likely pathogenic 812775 12:122277860-122277860 12:121839954-121839954
11 REEP1 NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)SNV Conflicting interpretations of pathogenicity 242633 rs587781248 2:86444224-86444224 2:86217101-86217101
12 SPAST NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe)SNV Conflicting interpretations of pathogenicity 448444 rs1060502227 2:32361662-32361662 2:32136593-32136593
13 46;XX;inv(6)(p24q11)dninversion Uncertain significance 267935
14 PMP22 NM_000304.4(PMP22):c.422T>G (p.Val141Gly)SNV Uncertain significance 373965 rs1057518804 17:15134295-15134295 17:15230978-15230978
15 CACNA1A NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met)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
17 SYN1 NM_006950.3(SYN1):c.1549C>T (p.Gln517Ter)SNV Uncertain significance 870609 X:47433834-47433834 X:47574435-47574435

Expression for Spasticity

Search GEO for disease gene expression data for Spasticity.

Pathways for Spasticity

Pathways related to Spasticity according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes

GO Terms for Spasticity

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 STXBP1 SPAST SLC2A1 SLC1A4 PLAA DARS1
2 neuronal cell body GO:0043025 9.65 WASHC5 SLC1A4 PMM2 KIF1A ALS2
3 axon GO:0030424 9.55 STXBP1 SACS KIF1A ATP6AP2 ALS2
4 cytoplasm GO:0005737 9.5 WASHC5 TECPR2 STXBP1 SPAST SLC2A1 SACS
5 axon cytoplasm GO:1904115 9.13 SPG7 SPAST KIF1A

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex assembly GO:0065003 9.33 SPG7 SLC2A1 DARS1
2 synaptic transmission, glutamatergic GO:0035249 9.13 SLC1A4 GRIA3 ALS2
3 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 protein binding GO:0005515 9.58 WASHC5 TECPR2 STXBP1 SPG7 SPAST SLC2A1
2 microtubule binding GO:0008017 9.26 SPAST REEP1 KIF7 KIF1A

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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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