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

MCID: HYP264 MIFTS: 33	Hypertonia
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Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia ⁵⁴ ²⁹ ⁶

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Summaries for Hypertonia

NINDS : ⁵⁴ Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy. Hypertonia often limits how easily the joints can move. If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance. If hypertonia is severe, it can cause a joint to become "frozen," which doctors call a joint contracture. Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement. Rigidity usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain). To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.

MalaCards based summary : Hypertonia is related to muscular hypertonia, lethal and spasticity. An important gene associated with Hypertonia is SMC1A (Structural Maintenance Of Chromosomes 1A). The drugs Acetylcholine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes.

Wikipedia : ⁷⁶ Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature... more...

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Related Diseases for Hypertonia

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

(show top 50) (show all 85)

#	Related Disease	Score
1	muscular hypertonia, lethal	11.9
2	spasticity	11.2
3	hyperekplexia	11.1
4	hypotonia	11.1
5	pontocerebellar hypoplasia, type 4	10.9
6	glycine encephalopathy with normal serum glycine	10.8
7	neurodevelopmental disorder with or without seizures and gait abnormalities	10.8
8	hydroxykynureninuria	10.8
9	phosphoserine aminotransferase deficiency	10.8
10	spastic paraplegia 50, autosomal recessive	10.8
11	spastic paraplegia 47, autosomal recessive	10.8
12	spastic paraplegia 52, autosomal recessive	10.8
13	peroxisomal acyl-coa oxidase deficiency	10.7
14	mitochondrial complex iii deficiency, nuclear type 8	10.7
15	crisponi/cold-induced sweating syndrome 1	10.7
16	epileptic encephalopathy, early infantile, 25	10.7
17	hydranencephaly	10.7
18	infantile hypotonia	10.7
19	hyperekplexia 1	10.7
20	dihydropyrimidine dehydrogenase deficiency	10.7
21	combined oxidative phosphorylation deficiency 21	10.7
22	weaver syndrome	10.7
23	mental retardation, autosomal dominant 42	10.7
24	chromosome 9p deletion syndrome	10.7
25	mental retardation and microcephaly with pontine and cerebellar hypoplasia	10.7
26	3-methylglutaconic aciduria, type viii	10.7
27	myoglobinuria, recurrent	10.7
28	seizures, benign familial infantile, 1	10.7
29	spastic diplegia	10.7
30	pontocerebellar hypoplasia, type 1a	10.7
31	hyperekplexia 4	10.7
32	krabbe disease	10.7
33	spastic paraplegia 51, autosomal recessive	10.7
34	cerebral palsy athetoid	10.7
35	hereditary methemoglobinemia	10.7
36	lissencephaly 2	10.7
37	mental retardation smith fineman myers type	10.7
38	d-bifunctional protein deficiency	10.7
39	keppen-lubinsky syndrome	10.7
40	hyperphenylalaninemia, bh4-deficient, c	10.7
41	hyperekplexia 3	10.7
42	lissencephaly	10.7
43	floppy infant syndrome	10.7
44	hyperphenylalaninemia, bh4-deficient, a	10.7
45	epileptic encephalopathy, early infantile, 21	10.7
46	dyskinetic cerebral palsy	10.7
47	cerebritis	10.2
48	brain injury	10.2
49	cerebral palsy	10.2
50	dystonia	10.1

Graphical network of the top 20 diseases related to Hypertonia:

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Symptoms & Phenotypes for Hypertonia

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Drugs & Therapeutics for Hypertonia

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

(show top 50) (show all 207)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetylcholine

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

51-84-3

187

Benzocaine

Approved, Investigational

Phase 4,Phase 3,Not Applicable

1994-09-7, 94-09-7

2337

Misoprostol

Approved

Phase 4,Phase 3,Phase 2

59122-46-2

5282381

Oxytocin

Approved, Vet_approved

Phase 4

50-56-6

439302 53477758

Remifentanil

Approved

Phase 4

132875-61-7

60815

Memantine

Approved, Investigational

Phase 4

19982-08-2

4054

Clonidine

Approved

Phase 4,Phase 3,Phase 1,Phase 2

4205-90-7

2803

Dopamine

Approved

Phase 4,Not Applicable

51-61-6, 62-31-7

681

Ketamine

Approved, Vet_approved

Phase 4

6740-88-1

3821

Morphine

Approved, Investigational

Phase 4,Phase 3,Not Applicable

57-27-2

5288826

Baclofen

Approved

Phase 4,Phase 3,Phase 2,Phase 1

1134-47-0

2284

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Tizanidine

Approved, Investigational

Phase 4,Phase 3,Phase 1,Phase 2

51322-75-9

5487

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Ethanol

Approved

Phase 4,Phase 3

64-17-5

702

Dinoprostone

Approved

Phase 4,Phase 3,Phase 2

363-24-6

5280360

Dronabinol

Approved, Illicit

Phase 4,Phase 3,Phase 2,Phase 1

1972-08-3

16078

Peppermint oil

Approved, Investigational

Phase 4,Phase 3

8006-90-4

tannic acid

Approved, Nutraceutical

Phase 4,Phase 3,Not Applicable

Glutamic Acid

Approved, Nutraceutical

Phase 4

56-86-0

33032

Peppermint

Approved, Nutraceutical

Phase 4,Phase 3

abobotulinumtoxinA

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Cholinergic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Gastrointestinal Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Neuromuscular Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Neuromuscular Blocking Agents

Phase 4

Neuromuscular Nondepolarizing Agents

Phase 4

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

onabotulinumtoxinA

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Oxytocics

Phase 4,Phase 3,Phase 2

Antacids

Phase 4,Phase 3,Phase 2

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Pharmaceutical Solutions

Phase 4,Phase 3,Phase 2

incobotulinumtoxinA

Phase 4,Phase 3,Phase 2,Not Applicable

Anti-Ulcer Agents

Phase 4,Phase 3,Phase 2

Botulinum Toxins, Type A

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Botulinum Toxins

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Analgesics

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Central Nervous System Depressants

Phase 4,Phase 3,Phase 2,Not Applicable

Adrenergic Agents

Phase 4,Phase 3,Phase 1,Phase 2

rimabotulinumtoxinB

Phase 4,Phase 1,Phase 2

Adrenergic Agonists

Phase 4,Phase 3,Phase 1,Phase 2

Adrenergic alpha-2 Receptor Agonists

Phase 4,Phase 3,Phase 1,Phase 2

Adrenergic alpha-Agonists

Phase 4,Phase 3,Phase 1,Phase 2

Narcotics

Phase 4,Phase 3,Not Applicable

Sympatholytics

Phase 4,Phase 3,Phase 1,Phase 2

Analgesics, Opioid

Phase 4,Phase 3,Not Applicable

Anesthetics

Phase 4,Phase 3,Not Applicable

Anesthetics, Dissociative

Phase 4

Anesthetics, General

Phase 4

Interventional clinical trials:

(show top 50) (show all 358)

#	Name	Status	NCT ID	Phase	Drugs
1	Comparison of Vaginal Misoprostol Plus Supracervical Balloon Versus Vaginal Misoprostol Alone for Induction of Labor	Unknown status	NCT02762942	Phase 4	Misoprostol
2	Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity	Unknown status	NCT02757404	Phase 4
3	Upper Extremity Rehabilitation Using Robot and Botulinum Toxin	Unknown status	NCT02228863	Phase 4
4	The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults	Unknown status	NCT02505802	Phase 4	BoNT-A injection
5	Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy	Unknown status	NCT02462018	Phase 4
6	Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity	Unknown status	NCT02358005	Phase 4
7	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	Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity	Unknown status	NCT01786005	Phase 4
9	The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy	Unknown status	NCT01256021	Phase 4	Botulinum Toxin Type A
10	SISTERS: Spasticity In Stroke Study - Randomized Study	Completed	NCT01032239	Phase 4	intrathecal baclofen
11	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)
12	Study to Assess Impact of Dysport Injections Early After Stroke on Upper Limb Spasticity Progression	Completed	NCT02321436	Phase 4	BotulinumtoxinA;Placebo
13	The Balloon Project for Birth Induction	Completed	NCT01255839	Phase 4	Minprostin
14	Effect of Neuromuscular Blockade on Operating Conditions and Overall Satisfaction During Spinal Surgery	Completed	NCT02724111	Phase 4	sufficient dose of rocuronium;sugammadex 10 min after position change
15	Study of Memantine for Gait Disorders And Attention Deficit In Parkinson's Disease	Completed	NCT01108029	Phase 4	memantine;placebo
16	NAS Treatment - Opiate Versus Non-Opiate	Completed	NCT01734551	Phase 4	Morphine;Clonidine
17	A Study Comparing the Use of Deep or Standard Neuromuscular Blockade in Combination With Low or Standard Insufflation Pressures in Participants Undergoing Laparoscopic Cholecystectomy (P07982)	Completed	NCT01728584	Phase 4	Rocuronium;Sugammadex
18	Remifentanil Use in Pediatric Rigid Bronchoscopy	Completed	NCT01947114	Phase 4	Propofol;Ketamine;Remifentanil
19	Botulinum Toxin A Adult Gastrocnemius Muscle Study	Completed	NCT01278576	Phase 4	BOTOX-A®
20	Hand Rehabilitation Using Botulinum Toxin and Functional Electrical Stimulation-pilot Study	Completed	NCT03549975	Phase 4	Botulinum Toxin Type A 100 unit/Vial (Product)
21	Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot	Completed	NCT03044080	Phase 4	IncobotulinumtoxinA;OnabotulinumtoxinA
22	BOTOX® Economic Spasticity Trial (BEST)	Completed	NCT00549783	Phase 4
23	BOTOX® Versus Zanaflex® for the Treatment of Post-Stroke or Traumatic Brain Injury Upper Limb Spasticity	Completed	NCT00430196	Phase 4	BOTOX®;Zanaflex®
24	Asian Botulinum Clinical Trial Designed for Early Stroke Spasticity	Completed	NCT00234546	Phase 4	Botulinum toxin type A (Dysport®)
25	Effects on Quality of Life Following Dysport Treatment in Post-Stroke Spasticity of the Arm	Completed	NCT00216411	Phase 4	Botulinum type A toxin (Dysport)
26	Myobloc Atrophy Study	Completed	NCT02052024	Phase 4	Botox;MYOBLOC
27	Safety of Xeomin for Lower Limb Spasticity in Multiple Sclerosis Patients	Completed	NCT01968902	Phase 4
28	A Randomized Study of Sativex on Cognitive Function and Mood: Multiple Sclerosis Patients	Completed	NCT01964547	Phase 4	Sativex;Placebo
29	Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity	Completed	NCT00178646	Phase 4	Botox
30	The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination	Recruiting	NCT03367429	Phase 4	Botox
31	Efficacy and Safety of Hourly Titrated Misoprostol Versus Vaginal Dinoprostone and Misoprostol for Cervical Ripening and Labor Induction	Recruiting	NCT02902653	Phase 4	Oral misoprostol;Vaginal misoprostol;Vaginal dinoprostone
32	Dose-response Relationship of Botullinum Toxin (DWP 450) for Finger Flexor Spasticity	Recruiting	NCT03517319	Phase 4	Normal Saline 0.9% 1.2 ml;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 15 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 30 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 50 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 70 U
33	The Effect of a Self-rehabilitation Program in Addition to Usual Treatment for Spasticity on Impairment and Activity Limitation in Patients With Spastic Hemiparesis Following Stroke	Recruiting	NCT02944929	Phase 4
34	Intrathecal (IT) Baclofen Drug Distribution	Recruiting	NCT02903823	Phase 4	Baclofen bolus injection
35	Study of the Effects on Motor Recovery of Early Post-stroke Spasticity Treatment	Recruiting	NCT02462317	Phase 4	botulinum A toxin;Baclofen;Placebo toxin;placebo baclofen
36	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?	Recruiting	NCT02546999	Phase 4	botox;placebo
37	Study to Evaluate Effects of DYSPORT® Injected in Lower and Upper Limb Combined With Guided Self-Rehabilitation Contract (GSC)	Active, not recruiting	NCT02969356	Phase 4	AbobotulinumtoxinA (Dysport®)
38	Randomised, Evaluation-blinded, Crossover, Controlled Study Assessing Dynamic Hand Splinting in Adults With Post-stroke Hemiplegia (Orthox)	Not yet recruiting	NCT02888548	Phase 4
39	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy	Terminated	NCT00549471	Phase 4
40	Labor Induction and Maternal BMI, Comparison of Different Pre-induction Cervical Ripening Methods	Unknown status	NCT02223949	Phase 2, Phase 3	PGE1 tablet
41	Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Upper Extremities	Unknown status	NCT02557737	Phase 3	Botulinum Toxin Type A
42	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
43	Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP)	Unknown status	NCT01343355	Phase 2, Phase 3	Tamibarotene
44	HEMITOX : 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
45	Study of a New Generation Botulinum Toxin A2NTX to Treat Spasticity After Stroke	Unknown status	NCT01910363	Phase 2, Phase 3	A2NTX;BOTOX
46	Titrated Oral Compared With Vaginal Misoprostol for Labor Induction at Term	Completed	NCT00529295	Phase 3	misoprostol
47	Safety and Efficacy of Oral Fampridine-Sustained Release (SR) for the Treatment of Spasticity Resulting From Spinal Cord Injury	Completed	NCT01683838	Phase 3	Fampridine-SR;Placebo
48	Cervical Ripening Before Induction of Labour at Term: a Randomised Comparison of Prostin vs Propess	Completed	NCT00545194	Phase 3	Prostaglandin E2
49	Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia	Completed	NCT02604186	Phase 2, Phase 3
50	A Study to Evaluate the Botulinum Toxin Type A for Injection(HengLi®) in Subjects With Post-stroke Upper Limb Spasticity	Completed	NCT02280083	Phase 3	Botulinum Toxin Type A for Injection;placebo

Search NIH Clinical Center for Hypertonia

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Genetic Tests for Hypertonia

Genetic tests related to Hypertonia:

#	Genetic test	Affiliating Genes
1	Hypertonia ²⁹

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Anatomical Context for Hypertonia

MalaCards organs/tissues related to Hypertonia:

⁴¹

Spinal Cord, Brain, Testes, Prostate, Cervix, Lung, Eye

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Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 190)

#	Title	Authors	Year
1	Management of hypertonia in cerebral palsy. ( 29135566 )	Nahm N.J....Georgiadis A.G.	2018
2	Casting Protocols Following BoNT-A Injections to Treat Spastic Hypertonia of the Triceps Surae in Children with Cerebral Palsy and Equinus Gait: A Randomized Controlled Trial. ( 29771161 )	Kelly B....Wood E.	2018
3	The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis. ( 29433091 )	Van Der Linden M.L....Verheul M.H.G.	2018
4	Spasticity and spastic dystonia: the two faces of velocity-dependent hypertonia. ( 28985544 )	Marinelli L....Bandini F.	2017
5	Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and CafAc-au-Lait Macules and Review of the Literature. ( 29258104 )	Malinverni A.C.M....Melaragno M.I.	2017
6	Different Effects of Cold Stimulation on Reflex and Non-Reflex Components of Poststroke Spastic Hypertonia. ( 28503163 )	Li S....Li X.	2017
7	Hypertonia Assessment Tool. ( 27742862 )	Marsico P....van Hedel H.J.	2017
8	Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion. ( 28924745 )	Lee C.A....Li L.	2017
9	A second-degree atrioventricular block with double escape rhythm secondary to paroxysmal vagal hypertonia. ( 28857928 )	ButtA C....Pinto A.	2017
10	Hypertonia. ( 28716516 )	Evans S.H....Burton J.M.	2017
11	Congenital Hypertonia of the Temporalis Leading to Trismus Since Birth. ( 27408475 )	Dharmesh Kumar Raja A.V....Srinivasan K.G.	2016
12	Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM. ( 26683069 )	Lemieux M....Bretzner F.	2016
13	Encephalopathy with upper body hypertonia and myoclonus in patient with systemic lupus erythematosus and anti-CASPR2. ( 27432809 )	Castro A....Pereira da Silva J.A.	2016
14	Acquired Mutism and Hypertonia in a Toddler. ( 27364777 )	Alghalith Y....Binalsheikh I.M.	2016
15	Spasticity and its contribution to hypertonia in cerebral palsy. ( 25649546 )	Bar-On L....Desloovere K.	2015
16	Predictive factors of hypertonia in the upper extremity of chronic stroke survivors. ( 26357437 )	Lee G....Park D.S.	2015
17	Interval training-induced alleviation of rigidity and hypertonia in patients with Parkinson's disease is accompanied by increased basal serum brain-derived neurotrophic factor. ( 25510618 )	Marusiak J....JaskA^lska A.	2015
18	Validity of resting myotonometric assessment of lower extremity muscles in chronic stroke patients with limited hypertonia: a preliminary study. ( 25023163 )	FrAPhlich-Zwahlen A.K....Maffiuletti N.A.	2014
19	Neonatal hypertonia - a diagnostic challenge. ( 25495611 )	Hart A.R....Mordekar S.R.	2014
20	Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia. ( 25280635 )	Han C....Yang Y.	2014
21	Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. ( 25319849 )	Saitsu H....Matsumoto N.	2014
22	Unmyelinated axon loss with postnatal hypertonia after fetal hypoxia. ( 24633673 )	Drobyshevsky A....Tan S.	2014
23	Physical therapy in the management of pelvic floor muscles hypertonia in a woman with hereditary spastic paraplegia. ( 25478261 )	Ribeiro A.M....Brito L.G.	2014
24	Effect of radial shock wave therapy on pain and muscle hypertonia: a double-blind study in patients with multiple sclerosis. ( 25257616 )	Marinelli L....Trompetto C.	2014
25	Shock Waves in the Treatment of Muscle Hypertonia and Dystonia. ( 25309915 )	Mori L....Trompetto C.	2014
26	Asymmetries in vestibular evoked myogenic potentials in chronic stroke survivors with spastic hypertonia: evidence for a vestibulospinal role. ( 24680197 )	Miller D.M....Rymer W.Z.	2014
27	Therapist recognition of impaired muscle groups in simulated multi-joint hypertonia. ( 24187243 )	Melendez-Calderon A....Mussa-Ivaldi F.A.	2013
28	Haptic perception of multi-joint hypertonia during simulated patient-therapist physical tele-interaction. ( 24110644 )	Piovesan D....Mussa-Ivaldi F.A.	2013
29	Acquired deforming hypertonia and contractures in elderly subjects: Definition and prevalence in geriatric institutions (ADH survey). ( 24332786 )	Dehail P....Jeandel C.	2013
30	Muscle hypertonia after permanent focal cerebral ischemia in rats: a qualitative and quantitative behavioral and electrophysiological study. ( 23509968 )	Shi G.X....Liu C.Z.	2013
31	Topical glyceryl trinitrate ointment for pain related to anal hypertonia after stapled hemorrhoidopexy: a randomized controlled trial. ( 23652752 )	Mari F.S....Brescia A.	2013
32	Baclofen in community paediatric management of hypertonia. ( 23142787 )	Kumar R....George B.	2013
33	Further Evaluation of the Scoring, Reliability, and Validity of the Hypertonia Assessment Tool (HAT). ( 23584688 )	Knights S....Fehlings D.	2013
34	Haptic recognition of dystonia and spasticity in simulated multi-joint hypertonia. ( 24187266 )	Piovesan D....Mussa-Ivaldi F.A.	2013
35	Differential diagnosis and treatment of muscle hypertonia as practiced in Zagreb's Centre/Institute for Neuromuscular Diseases. ( 24803845 )	JuA!iA8 A.	2013
36	Indirect estimates of jaw muscle tension in children with suspected hypertonia, children with suspected hypotonia, and matched controls. ( 22653916 )	Connaghan K.P....Moore C.A.	2013
37	Treatment of upper limb extensor hypertonia: case report. ( 23809466 )	Bhardwaj P....Sabapathy S.R.	2013
38	Is oral baclofen effective in neonatal hypertonia? ( 21940694 )	Schulz E....Mathew O.P.	2012
39	Effect of concentration and mode of intrathecal baclofen administration on soleus H-reflex in patients with muscle hypertonia. ( 22595326 )	Stokic D.S....Yablon S.A.	2012
40	Managing spastic hypertonia in children with cerebral palsy via repetitive passive knee movements. ( 22366894 )	Cheng H.Y....Wong M.K.	2012
41	Coactivation of ankle muscles during stance phase of gait in patients with lower limb hypertonia after acquired brain injury. ( 22325644 )	Chow J.W....Stokic D.S.	2012
42	Electromyogram-lengthening velocity relation in plantar flexors during stance phase of gait in patients with hypertonia after acquired brain injury. ( 22465583 )	Chow J.W....Stokic D.S.	2012
43	Casting for upper limb hypertonia: a retrospective study to determine the factors associated with intervention decisions. ( 23232165 )	Kuipers K....Copley J.	2012
44	Botulinum toxin-A use in paediatric hypertonia: Canadian practice patterns. ( 22728860 )	Fehlings D....Watt J.	2012
45	Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. ( 22442437 )	Jain R.K....Laing N.G.	2012
46	Spasticity or reversible muscle hypertonia? ( 21491075 )	Bakheit A.M....Molteni F.	2011
47	An old drug for use in the prevention of sudden infant unexpected death due to vagal hypertonia. ( 21814782 )	Bassareo P.P....Mercuro G.	2011
48	Commentary on &quot;spasticity or reversible muscle hypertonia?&quot;. ( 21826387 )	Lindberg P.G....Borg J.	2011
49	Arm motor control as predictor for hypertonia after stroke: a prospective cohort study. ( 21878212 )	de Jong L.D....Dijkstra P.U.	2011
50	Commentary on &quot;spasticity or reversible muscle hypertonia?&quot;. ( 21826390 )	Ward A.	2011

Sources

Genes for Hypertonia

Genes related to Hypertonia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	400	Pathogenic ⁶
2	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	42.26	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders (show sections)
3	GNB1	G Protein Subunit Beta 1	Protein Coding	17.63	GeneCards inferred via : Variants (show sections)
4	SLC6A9	Solute Carrier Family 6 Member 9	Protein Coding	17.26	GeneCards inferred via : Disorders (show sections)
5	SLC13A5	Solute Carrier Family 13 Member 5	Protein Coding	17.26	GeneCards inferred via : Disorders (show sections)

Sources

Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

⁶

(show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TSEN54	NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs113994152	GRCh37	Chromosome 17, 73518081: 73518081
2	TSEN54	NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs113994152	GRCh38	Chromosome 17, 75522000: 75522000
3	SMC1A	NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del)	deletion	Pathogenic	rs727503773	GRCh37	Chromosome X, 53439900: 53439902
4	SMC1A	NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del)	deletion	Pathogenic	rs727503773	GRCh38	Chromosome X, 53412950: 53412952
5			complex	Pathogenic
6		46;XX;t(19;21)(q13.3;q22.3)dn	Translocation	Pathogenic
7		46;XY;t(2;14)(p22;q24.3)dn	Translocation	Likely pathogenic
8	ASXL1	NM_015338.5(ASXL1): c.664G> A (p.Glu222Lys)	single nucleotide variant	Uncertain significance	rs780662350	GRCh38	Chromosome 20, 32429999: 32429999
9	ASXL1	NM_015338.5(ASXL1): c.664G> A (p.Glu222Lys)	single nucleotide variant	Uncertain significance	rs780662350	GRCh37	Chromosome 20, 31017802: 31017802
10	OTX2	NM_172337.2(OTX2): c.167_169delTGTinsGG (p.Leu56Argfs)	indel	Likely pathogenic		GRCh38	Chromosome 14, 56804268: 56804270
11	OTX2	NM_172337.2(OTX2): c.167_169delTGTinsGG (p.Leu56Argfs)	indel	Likely pathogenic		GRCh37	Chromosome 14, 57270986: 57270988
12	CASK	NM_003688.3(CASK): c.2221+1delinsAT	indel	Likely pathogenic		GRCh38	Chromosome X, 41534892: 41534892
13	CASK	NM_003688.3(CASK): c.2221+1delinsAT	indel	Likely pathogenic		GRCh37	Chromosome X, 41394145: 41394145
14	CLUH; METTL16; PAFAH1B1; RAP1GAP2	GRCh37/hg19 17p13.3(chr17: 2339561-2826073)	copy number loss	Pathogenic		GRCh37	Chromosome 17, 2339561: 2826073

Sources

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

Sources

Pathways for Hypertonia

Sources

GO Terms for Hypertonia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	9.16	GNB1 SMC1A
2	transporter activity	GO:0005215	8.96	SLC13A5 SLC6A9
3	symporter activity	GO:0015293	8.62	SLC13A5 SLC6A9

Sources

Sources for Hypertonia

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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia