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

MCID: SPS057 MIFTS: 42	Spasticity Categories: Muscle diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Spasticity

MalaCards integrated aliases for Spasticity:

Name: Spasticity ⁵² ²⁸ ⁵ ⁷⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

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Summaries for Spasticity

NINDS: ⁵² 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 41, autosomal dominant and spastic paraplegia 19, autosomal dominant. An important gene associated with Spasticity is SPAST (Spastin), and among its related pathways/superpathways is Sudden infant death syndrome (SIDS) susceptibility pathways. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skeletal muscle, and related phenotypes are nervous system and growth/size/body region

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

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Related Diseases for Spasticity

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

(show all 40)

#	Related Disease	Score	Top Affiliating Genes
1	spastic paraplegia 41, autosomal dominant	10.3	WASHC5 SPAST
2	spastic paraplegia 19, autosomal dominant	10.3	WASHC5 SPAST
3	spastic paraplegia 34, x-linked	10.3	WASHC5 SPAST
4	spinocerebellar ataxia, autosomal recessive 14	10.3	SACS AFG3L2
5	spastic paraplegia 3, autosomal dominant	10.3	WASHC5 SPAST
6	spastic paraplegia 53, autosomal recessive	10.3	WASHC5 SPAST
7	hereditary spastic paraplegia 30	10.3	WASHC5 SPAST
8	spastic paraplegia 14, autosomal recessive	10.3	WASHC5 SPAST
9	spastic paraplegia 61, autosomal recessive	10.3	WASHC5 SPAST
10	spastic paraplegia 26, autosomal recessive	10.3	WASHC5 SPAST
11	spastic paraplegia 44, autosomal recessive	10.3	WASHC5 PLP1
12	spastic paraplegia 8, autosomal dominant	10.3	WASHC5 SPAST
13	spastic paraplegia 9a, autosomal dominant	10.3	WASHC5 SPAST
14	spastic paraplegia 15, autosomal recessive	10.3	WASHC5 SPAST
15	spastic paraplegia 7, autosomal recessive	10.2	SACS AFG3L2
16	spastic paraplegia 43, autosomal recessive	10.2	WASHC5 SPAST
17	spastic paraplegia 75, autosomal recessive	10.2	SPAST PLP1
18	pontocerebellar hypoplasia, type 2e	10.2	WASHC5 SPAST ALS2
19	hereditary spastic paraplegia 35	10.2	WASHC5 SPAST
20	spinocerebellar ataxia 15	10.2	SACS AFG3L2
21	cerebellar disease	10.2	SPAST SACS AFG3L2
22	spastic paraplegia 42, autosomal dominant	10.1	WASHC5 SPAST
23	early myoclonic encephalopathy	10.1	STXBP1 SLC2A1 AFG3L2
24	progressive myoclonus epilepsy	10.1	STXBP1 SACS AFG3L2
25	spastic paraparesis	10.1	SPAST AFG3L2
26	spastic paraplegia 10, autosomal dominant	10.1	WASHC5 SPAST PLP1 ALS2
27	paraplegia	10.1	WASHC5 SPAST PLP1 AFG3L2
28	spastic paraplegia 13, autosomal dominant	10.1	WASHC5 SPAST
29	spastic paraplegia 20, autosomal recessive	10.0	WASHC5 SPAST
30	spastic paraplegia 2, x-linked	10.0	WASHC5 SPAST RAB9B PLP1
31	warburg micro syndrome 1	9.9	RAB9B RAB3GAP1 ALS2
32	spastic cerebral palsy	9.9	STXBP1 SPAST RAB3GAP1 PLP1
33	frontotemporal dementia	9.9	WASHC5 SPAST GRIA3 ALS2
34	west syndrome	9.9	STXBP1 SLC2A1 MTHFR GRIA3
35	spastic ataxia	9.9	WASHC5 STXBP1 SPAST SACS PLP1 AFG3L2
36	cerebral palsy	9.8	SPAST PMM2 PLP1 NSRP1 MTHFR
37	strabismus	9.7	STXBP1 SLC2A1 PMM2 KIF7
38	hereditary spastic paraplegia	9.7	WASHC5 SPAST SACS RAB9B PLP1 ALS2
39	aceruloplasminemia	9.6	STXBP1 SLC2A1 PMM2 KIF7 AFG3L2
40	congenital nervous system abnormality	9.3	STXBP1 SLC2A1 RAB3GAP1 MTHFR KIF7 CREBBP

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	nervous system	MP:0003631	10.13	AFG3L2 ALS2 CREBBP DARS1 GRIA3 KIF7
2	growth/size/body region	MP:0005378	9.77	AFG3L2 ALS2 CREBBP DARS1 GRIA3 KIF7
3	muscle	MP:0005369	9.7	AFG3L2 ALS2 CREBBP KIF7 PLP1 PMM2
4	mortality/aging	MP:0010768	9.47	AFG3L2 ALS2 CREBBP DARS1 GRIA3 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 153)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Memantine

Approved, Investigational

Phase 4

41100-52-1, 19982-08-2

4054

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

GABA Agonists

Phase 4

Dopamine Agents

Phase 4

Antiparkinson Agents

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Dalfampridine

Approved

Phase 3

504-24-5

1727

Baclofen

Approved

Phase 3

1134-47-0

2284

Phenylephrine

Approved

Phase 3

59-42-7

6041

Oxymetazoline

Approved, Investigational

Phase 3

1491-59-4

4636

Valproic acid

Approved, Investigational

Phase 3

99-66-1

3121

Pentoxifylline

Approved, Investigational

Phase 3

6493-05-6

4740

Ethanol

Approved

Phase 3

64-17-5

702

Peppermint oil

Approved, Investigational

Phase 3

8006-90-4

Peppermint

Approved

Phase 3

Cannabidiol

Approved, Investigational

Phase 3

13956-29-1

521372 644019

Dronabinol

Approved, Illicit

Phase 3

1972-08-3

16078

Arbaclofen Placarbil

Investigational

Phase 3

847353-30-4

Trichostatin A

Experimental

Phase 3

58880-19-6

5562 444732

Nabiximols

Investigational

Phase 3

56575-23-6

Neem

Phase 2, Phase 3

Anticonvulsants

Phase 3

Potassium Channel Blockers

Phase 3

Psychotropic Drugs

Phase 3

Protective Agents

Phase 3

Platelet Aggregation Inhibitors

Phase 3

Antioxidants

Phase 3

Radiation-Protective Agents

Phase 3

Phosphodiesterase Inhibitors

Phase 3

Vasodilator Agents

Phase 3

rimabotulinumtoxinB

Phase 2, Phase 3

Analgesics

Phase 3

Phytosterol

Phase 3

Riluzole

Approved, Investigational

Phase 2

1744-22-5

5070

Metformin

Approved

Phase 2

1115-70-4, 657-24-9

4091

Acetylcholine

Approved, Investigational

Phase 2

51-84-3

187

Moxifloxacin

Approved, Investigational

Phase 2

186826-86-8, 354812-41-2, 151096-09-2

152946

Nabilone

Approved, Investigational

Phase 2

51022-71-0

39860 5284592

Levetiracetam

Approved

Phase 2

102767-28-2

441341 5284583

Miglustat

Approved

Phase 2

72599-27-0

51634

Atorvastatin

Approved

Phase 2

134523-00-5

60823

Chenodeoxycholic acid

Approved

Phase 2

474-25-9

10133

Evolocumab

Approved

Phase 1, Phase 2

1256937-27-5

Resveratrol

Investigational

Phase 2

501-36-0

445154

Tolperisone

Investigational

Phase 2

728-88-1

Neuroprotective Agents

Phase 2

Neurotransmitter Agents

Phase 2

abobotulinumtoxinA

Phase 2

Botulinum Toxins, Type A

Phase 2

Botulinum Toxins

Phase 2

Interventional clinical trials:

(show top 50) (show all 596)

#	Name	Status	NCT ID	Phase	Drugs
1	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
2	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
3	Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults	Unknown status	NCT02505802	Phase 4	BoNT-A injection
4	Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity	Unknown status	NCT02358005	Phase 4
5	Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy	Unknown status	NCT02462018	Phase 4
6	Upper Extremity Rehabilitation Using Robot and Botulinum Toxin	Unknown status	NCT02228863	Phase 4
7	Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity	Unknown status	NCT01786005	Phase 4
8	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
9	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®.
10	Myobloc Atrophy Study	Completed	NCT02052024	Phase 4	Botox;MYOBLOC
11	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
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	Placebo-Controlled Trial of BOTOX® Versus Zanaflex® for the Treatment of Subjects With Post Stroke Upper Limb Spasticity	Completed	NCT00430196	Phase 4	BOTOX®;Zanaflex®
14	Imaging of 3D Innervation Zone Distribution in Spastic Muscles From High-density Surface	Completed	NCT03302741	Phase 4	Botulinum neurotoxin (BTX)
15	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
16	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
17	BOTOX® Economic Spasticity Trial (BEST)	Completed	NCT00549783	Phase 4
18	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?	Completed	NCT02546999	Phase 4	botox;placebo
19	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
20	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)
21	Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity	Completed	NCT00178646	Phase 4	Botox
22	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)
23	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
24	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
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	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
27	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®
28	Intrathecal (IT) Baclofen Drug Distribution Pilot Study	Completed	NCT02903823	Phase 4	Baclofen bolus injection
29	Memantine for Spasticity in MS Patients	Completed	NCT00638027	Phase 4	placebo;memantine
30	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
31	A Multicentre, Interventional, Post-marketing, Randomised, Double-blind, Crossover Study to Evaluate the Clinical Safety and Efficacy of AbobotulinumtoxinA (Dysport®) in Comparison With OnabotulinumtoxinA (Botox®) When Treating Adults With Upper Limb Spasticity	Recruiting	NCT04936542	Phase 4
32	Comparison of the Efficacy of 2 Different Botulinum Toxin Injection Techniques in Gastrocnemius Muscle Spasticity in Hemiplegic Patients: A Randomized Double-blind Controlled Study.	Not yet recruiting	NCT05615987	Phase 4	Onabotulinumtoxina for Injection
33	The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination	Terminated	NCT03367429	Phase 4	Botox
34	Robotic Rehabilitation and Multimodal Instrumented Assessment of Post-stroke Elbow Motor Functions - a Randomized Controlled Trial Protocol	Unknown status	NCT04484571	Phase 2, Phase 3
35	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
36	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
37	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
38	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
39	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	Unknown status	NCT02944929	Phase 3
40	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
41	Central Effects of Botulinum Toxin: Neurophysiological Study in Stroke Patients With Spastic Lower Limb	Unknown status	NCT01829763	Phase 3	injection botox
42	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
43	The Efficacy, Safety and Tolerability of Sativex as an Adjunctive Treatment to Existing Anti-spasticity Medications in Children Aged 8 to 18 Years With Spasticity Due to Cerebral Palsy or Traumatic Central Nervous System Injury Who Have Not Responded Adequately to Their Existing Anti-spasticity Medications: a Parallel Group Randomised, Double-blind, Placebo-controlled Study Followed by a 24-week Open Label Extension Phase	Completed	NCT01898520	Phase 3	Sativex;Placebo
44	A Phase III, Prospective, Multicentre, Open Label, Extension Study, to Assess the Long Term Safety and Efficacy of Repeated Treatment of Dysport® Intramuscular Injection in the Treatment of Lower Limb Spasticity in Adult Subjects With Spastic Hemiparesis Due to Stroke or Traumatic Brain Injury	Completed	NCT01251367	Phase 3
45	A Two-phase, Phase 3 Study of the Safety and Efficacy of Sativex, in the Symptomatic Relief of Spasticity in Subjects With Spasticity Due to Multiple Sclerosis: Phase A - Single-blind Response Assessment; Phase B - Double-blind, Randomised, Placebo Controlled, Parallel Group Study.	Completed	NCT00681538	Phase 3	Sativex®;Placebo
46	Open-label, Non-controlled, Multicenter Long-term Study to Investigate the Safety and Efficacy of Xeomin® (Incobotulinumtoxin A, NT 201) for the Treatment of Spasticity of the Lower Limb(s) or of Combined Spasticity of Upper and Lower Limb in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy	Completed	NCT01905683	Phase 3	IncobotulinumtoxinA (16-20 Units per kg body weight)
47	Prospective, Multicenter, Randomized, Double-blind, Parallel-group, Dose-response Study of Three Doses Xeomin® (incobotulinumtoxinA, NT 201) for the Treatment of Upper Limb Spasticity Alone or Combined Upper and Lower Limb Spasticity in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy	Completed	NCT02002884	Phase 3	IncobotulinumtoxinA (8 Units per kg body weight);IncobotulinumtoxinA (6 Units per kg body weight);IncobotulinumtoxinA (2 Units per kg body weight)
48	Botulinum Toxin Efficiency on Spasticity of Rectus Femoris and Semitendinosus Muscles as Functional Agonist and Antagonist Muscles. Assessment of Efficiency of Botulinum Toxin on Spasticity in Agonist and Antagonist Muscles Using Clinical Assessment and Gait Analysis in Cerebral Palsy Children: Rectus Femoris and Semitendinosus	Completed	NCT00133861	Phase 2, Phase 3	Botulinum toxin
49	A Randomized, Double-Blind, Placebo-Controlled Parallel Group Study to Investigate the Safety and Efficacy of Arbaclofen Extended-Release Tablets for the Treatment of Spasticity in Patients With Multiple Sclerosis	Completed	NCT03290131	Phase 3	Arbaclofen;Placebo
50	A Randomized, Double-blind, Active Drug Controlled, Multi-Center, Phase I/III Clinical Trial to Evaluate the Efficacy and Safety of CORETOX® in Treatment of Post Stroke Upper Limb Spasticity	Completed	NCT03289702	Phase 3	CORETOX®;BOTOX®

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 ²⁸

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Anatomical Context for Spasticity

Organs/tissues related to Spasticity:

MalaCards : Spinal Cord, Brain, Skeletal Muscle, Cortex, Bone Marrow, Bone, Dorsal Root Ganglion

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Publications for Spasticity

Articles related to Spasticity:

(show top 50) (show all 12957)

#	Title	Authors	PMID	Year
1	ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. ⁵	Caporali L...Taroni F	32219868	2020
2	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
3	Association between brain N-acetylaspartate levels and sensory and motor dysfunction in patients who have spinal cord injury with spasticity: an observational case-control study. ⁶²	Liu JY...Li JJ	36018181	2023
4	Excitability of the radiculo-medullary circuitry in spastic cerebral palsy: An intraoperative neurophysiological study in children undergoing selective dorsal rhizotomy. ⁶²	Sindou M...Dinopoulos A	35698904	2023
5	Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report. ⁶²	Forbes E...Fridman V	36057781	2022
6	[A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family]. ⁶²	Zhang LP...Wang YF	36456515	2022
7	A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus. ⁶²	Olgac A...Alioglu B	36474391	2022
8	Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations. ⁶²	Sahin I...Saat H	34420199	2022
9	TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. ⁶²	Hijazi H...Lupski JR	36368327	2022
10	A Diagnostic Approach to Spastic ataxia Syndromes. ⁶²	Pedroso JL...Munhoz RP	34782953	2022
11	Accidental organophosphate poisoning: A case series of 2 pediatric coumaphos exposures. ⁶²	Seltzer JA...Clark RF	36474706	2022
12	Evaluation of secondary complication awareness among individuals with spinal cord injury. ⁶²	Korkmaz N...Yilmaz B	36083580	2022
13	Worst spasticity in patients post-stroke associated with MNSOD ALA16VAL polymorphism and interleukin-1β. ⁶²	Flores AE...Fighera MR	36100117	2022
14	The hip of children with Congenital Zika Syndrome: a prospective observational study. ⁶²	Fonseca JOD...Gameiro VS	36470461	2022
15	Effect of inhibitory kinesiotaping on spasticity in patients with chronic stroke: a randomized controlled pilot trial. ⁶²	Mehraein M...Salehi Dehno N	34427177	2022
16	Spasticity following brain and spinal cord injury: assessment and treatment. ⁶²	Tamburin S...Picelli A	36226708	2022
17	Focal vibration of the plantarflexor and dorsiflexor muscles improves poststroke spasticity: a randomized single-blind controlled trial. ⁶²	Chen YL...Bai YL	35940478	2022
18	Effects of robotic rehabilitation using the Erigo® device on patients with neurological injury: a systematic review and meta-analysis of randomized clinical trials. ⁶²	Garlet AB...Della Mea Plentz R	36469933	2022
19	Measuring Mechanical Properties of Spastic Muscles After Stroke. Does Muscle Position During Assessment Really Matter? ⁶²	Garcia-Bernal MI...Heredia-Rizo AM	35724753	2022
20	GABAB receptor agonist baclofen promotes central nervous system remyelination. ⁶²	Serrano-Regal MP...Sanchez-Gomez MV	35980256	2022
21	A Clinical Evaluation of the Accuracy of an Intrathecal Drug Delivery Device. ⁶²	Copley S...Eldabe S	36473773	2022
22	Applying transcranial magnetic stimulation to rehabilitation of poststroke lower extremity function and an improvement: Individual-target TMS. ⁶²	Qi S...Huang ZG	36437474	2022
23	Treating Severe Traumatic Brain Injury: Combining Neurofeedback and Hyperbaric Oxygen Therapy in a Single Case Study. ⁶²	White RD...Swatzyna RJ	34931544	2022
24	Feasibility of transcutaneous spinal direct current stimulation combined with locomotor training after spinal cord injury. ⁶²	Hawkins KA...Fox EJ	35477745	2022
25	Promising Advances in Pharmacotherapy for Patients with Spinal Cord Injury-A Review of Studies Performed In Vivo with Modern Drugs. ⁶²	Mech D...Kruk-Slomka M	36431161	2022
26	SPINE: An Initiative to Reduce Pressure Sore Recurrence. ⁶²	Brown AL...Mailey BA	36389613	2022
27	The muscle shortening maneuver in individuals with stroke: a consideration-of-concept randomized pilot trial. ⁶²	Longo D...Bagni MA	36398746	2022
28	Employment of Neuromuscular Electrical Stimulation to Examine Muscle and Bone Qualities after Spinal Cord Injury. ⁶²	Gorgey AS...Cifu DX	36431158	2022
29	Development, Quality by Design-Based Optimization, and Stability Assessment of Oral Liquid Formulations Containing Baclofen for Hospital Use. ⁶²	de Saldanha Simon E...Steppe M	36385217	2022
30	Effects of paired associative magnetic stimulation between nerve root and cortex on motor function of lower limbs after spinal cord injury: study protocol for a randomized controlled trial. ⁶²	Sun TT...Xu DS	35535897	2022
31	Comprehensive Management of Pressure Injury: A Review. ⁶²	Kandi LA...Kruger EA	36243469	2022
32	Real-world operation of multiple sclerosis centres in Central-Eastern European countries covering 107 million inhabitants. ⁶²	Kokas Z...Bencsik K	36413917	2022
33	Effect of whole-body vibration training on the recovery of lower limb function in people with stroke: a systematic review and meta-analysis. ⁶²	Yang X...Li N	36367314	2022
34	Virtual reality and serious game therapy for post-stroke individuals: A preliminary study with humanized rehabilitation approach protocol. ⁶²	Marques IA...Naves ELM	36343422	2022
35	Effect of Acupuncture on Sensorimotor Function and Mobility in Patients with Multiple Sclerosis: A Pilot Study. ⁶²	Karpatkin H...Winsor S	36367978	2022
36	Staying Pressure Injury Free: The Role of Modifiable Behaviors. ⁶²	Cao Y...Krause JS	35257678	2022
37	Effects of neural mobilization in disorders associated with chronic secondary musculoskeletal pain: A systematic review and meta-analysis. ⁶²	Gonzalez-Matilla R...Heredia-Rizo AM	35780543	2022
38	The impact of intrathecal baclofen on the ability to walk: A systematic review. ⁶²	Lee HP...Balakrishnan S	36330654	2022
39	Post Hoc Subgroup Analysis of the BCause Study Assessing the Effect of AbobotulinumtoxinA on Post-Stroke Shoulder Pain in Adults. ⁶²	Riberto M...Khan P	36422983	2022
40	Prognosis prediction of the effect of botulinum toxin therapy and intensive rehabilitation on the upper arm function in post-stroke patients using hierarchical cluster analysis. ⁶²	Hara T...Abo M	34547217	2022
41	Dry needling for the treatment of muscle spasticity in a patient with multiple sclerosis: a case report. ⁶²	Khalifeloo M...Sahraian MA	34546842	2022
42	Multimodal assessment of spasticity using a point-of-care instrumented glove to separate neural and biomechanical contributions. ⁶²	Amit M...Ng TN	36281456	2022
43	Safety and efficacy of MT10107 in post-stroke upper limb spasticity treatment: A phase I randomized controlled trial. ⁶²	Lee J...Paik NJ	36343044	2022
44	AI-Based Automatic System for Assessing Upper-Limb Spasticity of Patients with Stroke Through Voluntary Movement. ⁶²	Lee IJ...Lin BS	36367914	2022
45	Spasticity Management Teams, Evaluations, and Tools: A Canadian Cross-Sectional Survey. ⁶²	Mills PB...Winston PJ	36408628	2022
46	Limb accelerations during sleep are related to measures of strength, sensation, and spasticity among individuals with spinal cord injury. ⁶²	Rigot SK...Worobey LA	36329467	2022
47	Persistence with Botulinum Toxin Treatment for Spasticity Symptoms in Multiple Sclerosis. ⁶²	Novarella F...Moccia M	36356024	2022
48	Changes in 5-HT1F receptor expression in rats with spasticity following spinal cord injury. ⁶²	Zhang C...Ren L	36471527	2022
49	[Can we associate botulinum toxin with radial electroshock wave therapy in the treatment of spasticity?] ⁶²	Fernandez-Cuadros ME...Albaladejo-Florin MJ	36344303	2022
50	Effects of whole-body vibration on neuropathic pain and the relationship between pain and spasticity in persons with spinal cord injury. ⁶²	Wong ML...Field-Fote EC	35468994	2022

Sources

Genes for Spasticity

Genes related to Spasticity (8 elite genes):

(show all 45)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPAST	Spastin	Protein Coding	414.38	Pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)
2	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	407.13	Pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	32219868
3	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	400	Pathogenic ⁵
4	NSRP1	Nuclear Speckle Splicing Regulatory Protein 1	Protein Coding	400	Pathogenic ⁵
5	PMM2	Phosphomannomutase 2	Protein Coding	400	Pathogenic ⁵	32581362
6	RAB3GAP1	RAB3 GTPase Activating Protein Catalytic Subunit 1	Protein Coding	400	Pathogenic ⁵
7	STXBP1	Syntaxin Binding Protein 1	Protein Coding	400	Pathogenic ⁵
8	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	400	Pathogenic ⁵
9	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	32.32	Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	32581362
10	PLP1	Proteolipid Protein 1	Protein Coding	31.45	Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)
11	SACS	Sacsin Molecular Chaperone	Protein Coding	27.24	GeneCards inferred via : Disorders Publications Summaries (show sections)
12	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	25.67	GeneCards inferred via : Disorders Publications Gene name (show sections)
13	DARS1	Aspartyl-TRNA Synthetase 1	Protein Coding	25.17	GeneCards inferred via : Disorders Publications Summaries (show sections)
14	CREBBP	CREB Binding Protein	Protein Coding	25	Likely pathogenic ⁵
15	GRIA3	Glutamate Ionotropic Receptor AMPA Type Subunit 3	Protein Coding	25	Likely pathogenic ⁵	32581362
16	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	25	Likely pathogenic ⁵	32581362
17	KIF7	Kinesin Family Member 7	Protein Coding	25	Likely pathogenic ⁵
18	RAB9B	RAB9B, Member RAS Oncogene Family	Protein Coding	25	Likely pathogenic ⁵
19	WASHC5	WASH Complex Subunit 5	Protein Coding	24.98	GeneCards inferred via : Disorders Publications Summaries (show sections)
20	MRST	Mental Retardation, Severe, With Spasticity And Tapetoretinal	Genetic Locus	16.4	GeneCards inferred via : Publications Gene name (show sections)
21	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	16.36	GeneCards inferred via : Disorders Publications (show sections)
22	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	16.15	GeneCards inferred via : Disorders Publications (show sections)
23	KIF1A	Kinesin Family Member 1A	Protein Coding	16.12	GeneCards inferred via : Disorders Publications (show sections)
24	VPS13D	Vacuolar Protein Sorting 13 Homolog D	Protein Coding	16.01	GeneCards inferred via : Disorders Publications (show sections)
25	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	15.84	GeneCards inferred via : Disorders Publications (show sections)
26	CAPN1	Calpain 1	Protein Coding	15.7	GeneCards inferred via : Disorders Publications (show sections)
27	ARX	Aristaless Related Homeobox	Protein Coding	15.64	GeneCards inferred via : Disorders Publications (show sections)
28	SLC1A4	Solute Carrier Family 1 Member 4	Protein Coding	15.64	GeneCards inferred via : Disorders Publications (show sections)
29	DDHD1	DDHD Domain Containing 1	Protein Coding	15.47	GeneCards inferred via : Disorders Summaries (show sections)
30	FAR1	Fatty Acyl-CoA Reductase 1	Protein Coding	15.47	GeneCards inferred via : Disorders Summaries (show sections)
31	TNR	Tenascin R	Protein Coding	15.4	GeneCards inferred via : Disorders Publications (show sections)
32	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	15.4	GeneCards inferred via : Disorders Publications (show sections)
33	ELOVL1	ELOVL Fatty Acid Elongase 1	Protein Coding	14.77	GeneCards inferred via : Disorders Publications (show sections)
34	GBA2	Glucosylceramidase Beta 2	Protein Coding	7.95	GeneCards inferred via : Publications (show sections)
35	CTC1	CST Telomere Replication Complex Component 1	Protein Coding	7.73	GeneCards inferred via : Disorders (show sections)
36	GABBR1	Gamma-Aminobutyric Acid Type B Receptor Subunit 1	Protein Coding	7.7	GeneCards inferred via : Publications (show sections)
37	NKX6-2	NK6 Homeobox 2	Protein Coding	7.61	GeneCards inferred via : Disorders (show sections)
38	STN1	STN1 Subunit Of CST Complex	Protein Coding	7.53	GeneCards inferred via : Disorders (show sections)
39	RETREG1	Reticulophagy Regulator 1	Protein Coding	7.52	GeneCards inferred via : Publications (show sections)
40	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	7.44	GeneCards inferred via : Disorders (show sections)
41	POLR3A	RNA Polymerase III Subunit A	Protein Coding	7.44	GeneCards inferred via : Disorders (show sections)
42	SPATA5L1	Spermatogenesis Associated 5 Like 1	Protein Coding	7.44	GeneCards inferred via : Disorders (show sections)
43	TECPR2	Tectonin Beta-Propeller Repeat Containing 2	Protein Coding	7.41	GeneCards inferred via : Summaries (show sections)
44	TTN	Titin	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)
45	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	7.32	GeneCards inferred via : Disorders (show sections)

Sources

Variations for Spasticity

ClinVar genetic disease variations for Spasticity:

⁵ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MTHFR	NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del)	MICROSAT	Pathogenic	873153	rs763186690	GRCh37: 1:11852374-11852376 GRCh38: 1:11792317-11792319
2	SPAST	NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)	SNV	Pathogenic	448444	rs1060502227	GRCh37: 2:32361662-32361662 GRCh38: 2:32136593-32136593
3	NSRP1	NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs)	DEL	Pathogenic	1047905		GRCh37: 17:28512372-28512375 GRCh38: 17:30185354-30185357
4	NSRP1	NM_032141.4(NSRP1):c.1272dup (p.Lys425fs)	DUP	Pathogenic	1047906		GRCh37: 17:28512285-28512286 GRCh38: 17:30185267-30185268
5	NSRP1	NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter)	SNV	Pathogenic	1047907		GRCh37: 17:28445129-28445129 GRCh38: 17:30118111-30118111
6	RAB3GAP1	NM_012233.3(RAB3GAP1):c.151-5T>G	SNV	Pathogenic	996741	rs1690127143	GRCh37: 2:135848563-135848563 GRCh38: 2:135090993-135090993
7	STXBP1	NM_001032221.6(STXBP1):c.116_118dup (p.Arg39dup)	DUP	Pathogenic	633836	rs1588294498	GRCh37: 9:130416019-130416020 GRCh38: 9:127653740-127653741
8	YWHAG	NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys)	SNV	Pathogenic	659092	rs1583981736	GRCh37: 7:75959469-75959469 GRCh38: 7:76330152-76330152
9	AFG3L2	NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	SNV	Pathogenic	973107	rs912546325	GRCh37: 18:12351346-12351346 GRCh38: 18:12351347-12351347
10	PMM2	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	SNV	Pathogenic	7723	rs80338700	GRCh37: 16:8900255-8900255 GRCh38: 16:8806398-8806398
11	PMM2	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	SNV	Pathogenic	7706	rs28936415	GRCh37: 16:8905010-8905010 GRCh38: 16:8811153-8811153
12	GRIA3	NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)	SNV	Likely Pathogenic	625211	rs780680047	GRCh37: X:122613916-122613916 GRCh38: X:123480065-123480065
13	HPD	NM_002150.3(HPD):c.1049T>C (p.Val350Ala)	SNV	Likely Pathogenic	812775	rs1592913789	GRCh37: 12:122277860-122277860 GRCh38: 12:121839954-121839954
14	CREBBP	NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)	DEL	Likely Pathogenic	523472	rs1555471098	GRCh37: 16:3778853-3778863 GRCh38: 16:3728852-3728862
15	KIF7	NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	SNV	Likely Pathogenic	374124	rs758361736	GRCh37: 15:90193067-90193067 GRCh38: 15:89649836-89649836
16	ALS2	NC_000002.12:g.201705201del	DEL	Likely Pathogenic	812988	rs1574655402	GRCh37: 2:202569923-202569923 GRCh38: 2:201705200-201705200
17	RAB9B, PLP1	NM_000533.5(PLP1):c.25A>T (p.Arg9Ter)	SNV	Likely Pathogenic	981179	rs2074488502	GRCh37: X:103040531-103040531 GRCh38: X:103785602-103785602
18	WASHC5	NM_014846.4(WASHC5):c.864+5G>C	SNV	Uncertain Significance	1027665	rs772529893	GRCh37: 8:126088585-126088585 GRCh38: 8:125076343-125076343
19	DMXL2	NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)	SNV	Uncertain Significance	1030274	rs1438220307	GRCh37: 15:51780776-51780776 GRCh38: 15:51488579-51488579
20	COL6A2	NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)	SNV	Uncertain Significance	598977	rs753298014	GRCh37: 21:47545737-47545737 GRCh38: 21:46125823-46125823
21	CACNA1A	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	SNV	Uncertain Significance	386521	rs563345694	GRCh37: 19:13323262-13323262 GRCh38: 19:13212448-13212448
22	REEP1	NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)	SNV	Uncertain Significance	242633	rs587781248	GRCh37: 2:86444224-86444224 GRCh38: 2:86217101-86217101
23	PMP22	NM_000304.4(PMP22):c.422T>G (p.Val141Gly)	SNV	Uncertain Significance	373965	rs1057518804	GRCh37: 17:15134295-15134295 GRCh38: 17:15230978-15230978