Spasticity disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPS057 MIFTS: 45	Spasticity Categories: Muscle diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Spasticity

MalaCards integrated aliases for Spasticity:

Name: Spasticity ⁵³ ²⁹ ⁶

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

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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...

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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:

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Symptoms & Phenotypes for Spasticity

MGI Mouse Phenotypes related to Spasticity:

⁴⁵

#	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

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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

Cholinergic Agents

Phase 4

Dihydroxyphenylalanine

Phase 4

incobotulinumtoxinA

Phase 4

Adrenergic alpha-Agonists

Phase 4

Parasympatholytics

Phase 4

Adrenergic Agents

Phase 4

Adrenergic Agonists

Phase 4

Analgesics

Phase 4

rimabotulinumtoxinB

Phase 4

Psychotropic Drugs

Phase 4

Antidepressive Agents

Phase 4

Analgesics, Opioid

Phase 4

Venlafaxine Hydrochloride

Phase 4

Serotonin and Noradrenaline Reuptake Inhibitors

Phase 4

Anti-Arrhythmia Agents

Phase 4

Calcium, Dietary

Phase 4

calcium channel blockers

Phase 4

Potassium Channel Blockers

Phase 4

Trace Elements

Phase 4

Micronutrients

Phase 4

Vitamins

Phase 4

Nutrients

Phase 4

Vasodilator Agents

Phase 4

diuretics

Phase 4

isosorbide-5-mononitrate

Phase 4

Anticonvulsants

Phase 4

Anti-Anxiety Agents

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Adrenocorticotropic Hormone

Phase 4

Melanocyte-Stimulating Hormones

Phase 4

beta-Endorphin

Phase 4

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
36	SPREAD AND EFFECTIVENESS OF BOTULINUM NEUROTOXIN A IN SPASTIC EQUINUS IN CEREBRAL PALSY:SHORT-TERM STUDY	Completed	NCT01276015	Phase 4	Botulinum Toxin Type A
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

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Genetic Tests for Spasticity

Genetic tests related to Spasticity:

#	Genetic test	Affiliating Genes
1	Spasticity ²⁹

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Anatomical Context for Spasticity

MalaCards organs/tissues related to Spasticity:

⁴⁰

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

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Publications for Spasticity

Articles related to Spasticity:

(show top 50) (show all 11209)

#	Title	Authors	PMID	Year
1	Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish. ⁶¹	Nyuzuki H...Matsui H	32529115	2020
2	Clinical and functional outcomes of total hip arthroplasty in patients with cerebral palsy: A systematic review. ⁶¹	Adams CT...Lakra A	32071528	2020
3	Submuscular Placement of Baclofen Infusion Pumps: Case Series and Technique. ⁶¹	Bogue JT...Otterburn DM	32149846	2020
4	Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. ⁶¹	Carmignac V...Thauvin-Robinet C	32279304	2020
5	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	Wang JX...Li JL	32453018	2020
6	Effects of spasticity and hemiplegic posture on median nerve and carpal tunnel in stroke patients: Electrophysiological and ultrasonographic evaluation. ⁶¹	Gunes S...Kutlay S	32417126	2020
7	Alteration of glycinergic receptor expression in lumbar spinal motoneurons is involved in the mechanisms underlying spasticity after spinal cord injury. ⁶¹	Sadlaoud K...Bras H	32339654	2020
8	Short-term effect of a close-fitting type of walking assistive device on spinal cord reciprocal inhibition. ⁶¹	Nakagawa K...Yuge L	32386864	2020
9	Selective dorsal rhizotomy for spasticity of genetic etiology. ⁶¹	Lohkamp LN...Ibrahim GM	32300873	2020
10	Overlapping neuropathological findings in an asymptomatic SPAST gene mutation carrier. ⁶¹	Forcen S...Vilas D	32213280	2020
11	Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution. ⁶¹	Flanders TM...Heuer GG	32539291	2020
12	KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. ⁶¹	Nemani T...Munot P	32096284	2020
13	Clinical Data for the Use of Cannabis-Based Treatments: A Comprehensive Review of the Literature. ⁶¹	Inglet S...Mortensen W	32483988	2020
14	Long term outcome of Selective Dorsal Rhizotomy for the management of childhood spasticity-functional improvement and complications. ⁶¹	Tu A...Steinbok P	32577879	2020
15	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	Wolter S...Haberl H	32577878	2020
16	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	Vidal X...Sitja-Rabert M	32556354	2020
17	Facts and de facto treatment of spasticity. ⁶¹	Kim H...Stanford R	32568127	2020
18	Cannabis extract for the treatment of painful tonic spasms in a patient with neuromyelitis optica spectrum disorder: A case report. ⁶¹	Tisavipat N...Jitprapaikulsan J	32559701	2020
19	Baclofen pump with pre-brainstem catheter tip placement: technical note and case series. ⁶¹	Saenz A...Mantese B	32504173	2020
20	A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report. ⁶¹	Nakamura-Shindo K...Yamada M	32280793	2020
21	Children with uncontrolled asthma and significant reversibility might show hypoxaemia. ⁶¹	Taytard J...Beydon N	32020332	2020
22	Dose-response of rPMS for upper Limb hemiparesis after stroke. ⁶¹	Kinoshita S...Abo M	32541528	2020
23	Predictors of Arm Nonuse in Chronic Stroke: A Preliminary Investigation. ⁶¹	Buxbaum LJ...Winstein CJ	32476616	2020
24	Resistance training in stroke rehabilitation: systematic review and meta-analysis. ⁶¹	Veldema J...Jansen P	32527148	2020
25	Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature. ⁶¹	Pan S...Zhu C	32310012	2020
26	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	Ekinci F...Bisgin A	32240828	2020
27	NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. ⁶¹	Kimonis V...Eis PS	32518176	2020
28	Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling. ⁶¹	Al-Holou SN...Rizzo WB	32506993	2020
29	Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. ⁶¹	Krude H...Tschop M	32242326	2020
30	De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. ⁶¹	Wijnen IGM...Kamsteeg EJ	32157189	2020
31	The anti-spasmodic effect of peppermint oil during colonoscopy: a systematic review and meta-analysis. ⁶¹	Aziz M...Nawras A	31994371	2020
32	Healing hand ulcers caused by focal spasticity. ⁶¹	Gupta AD...Addison S	32135027	2020
33	Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. ⁶¹	Wagner M...Opladen T	32099069	2020
34	Effect of Action Observation Training on Spasticity, Gross Motor Function, and Balance in Children with Diplegia Cerebral Palsy. ⁶¹	Jeong YA...Lee BH	32570855	2020
35	Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child. ⁶¹	Panda I...Faruq M	32181496	2020
36	Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications. ⁶¹	Sindou M...Georgoulis G	32548670	2020
37	Use of Shear Wave Elastography for Quantitative Assessment of Muscle Stiffness After Botulinum Toxin Injection in Children With Cerebral Palsy. ⁶¹	Bertan H...Yilmaz F	32488891	2020
38	Botulinum Toxin Type A for Upper Limb Spasticity in Poststroke Patients: A Meta-analysis of Randomized Controlled Trials. ⁶¹	Jia S...Wei Y	32305277	2020
39	Modified PRISM and SCI-SET Spasticity Measures for Persons with Traumatic Spinal Cord Injury: Results of a Rasch Analyses. ⁶¹	Sweatman WM...Field-Fote EC	32497601	2020
40	The effects of different injection techniques of botulinum toxin a in post-stroke patients with plantar flexor spasticity. ⁶¹	Turna IF...Turna O	29978276	2020
41	Effects of dry needling on post-stroke brain activity and muscle spasticity of the upper limb: a case report. ⁶¹	Mohammadpour F...Dommerholt J	32529885	2020
42	Practice patterns of physicians using adjunct therapies with botulinum toxin injection for spasticity: a Canadian multicenter cross-sectional survey. ⁶¹	Ip AH...Mills PB	32578339	2020
43	Sensory interventions on motor function, activities of daily living, and spasticity of the upper limb in people with stroke: A randomized clinical trial. ⁶¹	Derakhshanfar M...Tarhsaz H	32565102	2020
44	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	Lejeune T...Boyer FC	32451555	2020
45	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	Williams G...Hill B	32503375	2020
46	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	Lee J...Park YG	32497599	2020
47	The effectiveness of extracorporeal shock wave therapy for improving upper limb spasticity and functionality in stroke patients: a systematic review and meta-analysis. ⁶¹	Cabanas-Valdes R...Calvo-Sanz J	32513019	2020
48	Cost effectiveness and impact on quality of life of abobotulinumtoxinA and onabotulinumtoxinA in the treatment of children with lower limb spasticity in Canada. ⁶¹	Johnston K...Sullivan SD	31985313	2020
49	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	Ro T...Oikawa O	32171625	2020
50	Mathematical model of patella T-reflex and clinical evaluation with Ashworth scales. ⁶¹	Bilgin S...Uysal H	32549130	2020

Sources

Genes for Spasticity

Genes related to Spasticity (4 elite genes):

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PMM2	Phosphomannomutase 2	Protein Coding	406.4	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	GRIA3	Glutamate Ionotropic Receptor AMPA Type Subunit 3	Protein Coding	406.05	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	KIF7	Kinesin Family Member 7	Protein Coding	406.05	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	STXBP1	Syntaxin Binding Protein 1	Protein Coding	406.05	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	DARS1	Aspartyl-TRNA Synthetase 1	Protein Coding	33.31	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
6	SACS	Sacsin Molecular Chaperone	Protein Coding	29.46	GeneCards inferred via : Disorders Publications Summaries (show sections)
7	WASHC5	WASH Complex Subunit 5	Protein Coding	27.66	GeneCards inferred via : Disorders Publications Summaries (show sections)
8	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	23.48	GeneCards inferred via : Disorders Publications Gene name (show sections)
9	ELOVL1	ELOVL Fatty Acid Elongase 1	Protein Coding	22.8	GeneCards inferred via : Disorders Publications Variants (show sections)
10	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	22.62	GeneCards inferred via : Disorders Publications Variants (show sections)
11	SPAST	Spastin	Protein Coding	19.28	GeneCards inferred via : Disorders Variants (show sections)
12	KIF1A	Kinesin Family Member 1A	Protein Coding	19.19	GeneCards inferred via : Disorders Publications (show sections)
13	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	18.63	GeneCards inferred via : Disorders Publications (show sections)
14	REEP1	Receptor Accessory Protein 1	Protein Coding	18.25	GeneCards inferred via : Disorders Variants (show sections)
15	TECPR2	Tectonin Beta-Propeller Repeat Containing 2	Protein Coding	18.16	GeneCards inferred via : Disorders Summaries (show sections)
16	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	17.98	GeneCards inferred via : Disorders Variants (show sections)
17	DDHD1	DDHD Domain Containing 1	Protein Coding	17.83	GeneCards inferred via : Disorders Summaries (show sections)
18	CAPN1	Calpain 1	Protein Coding	16.13	GeneCards inferred via : Disorders Publications (show sections)
19	SLC1A4	Solute Carrier Family 1 Member 4	Protein Coding	15.75	GeneCards inferred via : Disorders Publications (show sections)
20	PLAA	Phospholipase A2 Activating Protein	Protein Coding	15.4	GeneCards inferred via : Disorders Variants (show sections)
21	UFC1	Ubiquitin-Fold Modifier Conjugating Enzyme 1	Protein Coding	15.05	GeneCards inferred via : Disorders Variants (show sections)
22	FAR1	Fatty Acyl-CoA Reductase 1	Protein Coding	14.95	GeneCards inferred via : Disorders Summaries (show sections)
23	INTS8	Integrator Complex Subunit 8	Protein Coding	14.92	GeneCards inferred via : Disorders Variants (show sections)
24	PCDH12	Protocadherin 12	Protein Coding	14.92	GeneCards inferred via : Disorders Variants (show sections)
25	CTNNB1	Catenin Beta 1	Protein Coding	14.76	GeneCards inferred via : Disorders Variants (show sections)
26	GLRX5	Glutaredoxin 5	Protein Coding	14.76	GeneCards inferred via : Disorders Variants (show sections)
27	MRST	Mental Retardation, Severe, With Spasticity And Tapetoretinal	Genetic Locus	14.7	GeneCards inferred via : Publications Gene name (show sections)
28	TRAPPC12	Trafficking Protein Particle Complex 12	Protein Coding	14.53	GeneCards inferred via : Disorders Variants (show sections)
29	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	14.16	GeneCards inferred via : Disorders Publications (show sections)

Sources

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)dn	Translocation	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.201705201del	deletion	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)dn	inversion	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

Sources

Expression for Spasticity

Search GEO for disease gene expression data for Spasticity.

Sources

Pathways for Spasticity

Pathways related to Spasticity according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.46	STXBP1 SLC1A4 GRIA3 CAPN1

Sources

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

Sources for Spasticity

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia