Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia 53 29 6


Summaries for Hypertonia

NINDS : 53 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 mental retardation and microcephaly with pontine and cerebellar hypoplasia and pathologic nystagmus. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways is CXCR4-mediated signaling events. The drugs Acetylcholine and Trihexyphenidyl have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotype is mortality/aging.

Wikipedia : 73 Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature... more...

Related Diseases for Hypertonia

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

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 30.8 TSEN54 CASK
2 pathologic nystagmus 29.1 OTX2 GNB1 CASK
3 microcephaly 27.8 TSEN54 SMC1A PRORP OTX2 GNB1 CASK
4 hyperekplexia 11.2
5 pontocerebellar hypoplasia, type 4 11.1
6 phosphoserine aminotransferase deficiency 11.1
7 spasticity 11.0
8 hyperekplexia 4 11.0
9 muscular hypertonia, lethal 11.0
10 peroxisomal acyl-coa oxidase deficiency 10.9
11 dihydropyrimidine dehydrogenase deficiency 10.9
12 weaver syndrome 10.9
13 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 10.9
14 spastic paraplegia 50, autosomal recessive 10.9
15 spastic paraplegia 47, autosomal recessive 10.9
16 spastic paraplegia 52, autosomal recessive 10.9
17 keppen-lubinsky syndrome 10.9
18 developmental and epileptic encephalopathy 21 10.9
19 combined oxidative phosphorylation deficiency 21 10.9
20 glycine encephalopathy with normal serum glycine 10.9
21 neurodevelopmental disorder with or without seizures and gait abnormalities 10.9
22 neurodevelopmental disorder with seizures and speech and walking impairment 10.9
23 spastic tetraplegia and axial hypotonia, progressive 10.9
24 8p inverted duplication/deletion syndrome 10.9
25 hypotonia 10.9
26 dyskinetic cerebral palsy 10.8
27 spastic diplegia 10.8
28 hyperekplexia 1 10.8
29 chromosome 9p deletion syndrome 10.8
30 crigler-najjar syndrome, type i 10.8
31 hydroxykynureninuria 10.8
32 krabbe disease 10.8
33 lissencephaly 2 10.8
34 d-bifunctional protein deficiency 10.8
35 hyperphenylalaninemia, bh4-deficient, c 10.8
36 hyperphenylalaninemia, bh4-deficient, a 10.8
37 spinocerebellar degeneration and corneal dystrophy 10.8
38 sulfite oxidase deficiency, isolated 10.8
39 aicardi syndrome 10.8
40 myoglobinuria, recurrent 10.8
41 seizures, benign familial infantile, 1 10.8
42 microcephaly, postnatal progressive, with seizures and brain atrophy 10.8
43 spastic paraplegia 51, autosomal recessive 10.8
44 tetrasomy 18p 10.8
45 thiamine metabolism dysfunction syndrome 5 10.8
46 hyperekplexia 3 10.8
47 mitochondrial complex iii deficiency, nuclear type 8 10.8
48 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta 10.8
49 mitochondrial dna depletion syndrome 14 10.8
50 mental retardation, autosomal dominant 42 10.8

Graphical network of the top 20 diseases related to Hypertonia:

Diseases related to Hypertonia

Symptoms & Phenotypes for Hypertonia

MGI Mouse Phenotypes related to Hypertonia:

# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 CASK GNB1 HGS OTX2 PRORP SMC1A

Drugs & Therapeutics for Hypertonia

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
Trihexyphenidyl Approved Phase 2 58947-95-8, 144-11-6 5572
Baclofen Approved Phase 2 1134-47-0 2284
4 Botulinum Toxins Phase 1, Phase 2
5 abobotulinumtoxinA Phase 1, Phase 2
6 Botulinum Toxins, Type A Phase 1, Phase 2
7 Cholinergic Agents Phase 2
8 Muscarinic Antagonists Phase 2
9 Cholinergic Antagonists Phase 2
10 Antiparkinson Agents Phase 2
11 Neurotransmitter Agents Phase 2
12 GABA Agonists Phase 2
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Nitrendipine Approved, Investigational 39562-70-4 4507
Enalaprilat Approved 76420-72-9 6917719
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
Maleic acid Experimental 110-16-7 444266
19 Vasodilator Agents
20 Antihypertensive Agents
21 Angiotensin-Converting Enzyme Inhibitors
protease inhibitors
23 calcium channel blockers
24 Hormones
25 HIV Protease Inhibitors
26 Calcium, Dietary
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 ASIS for Botox in Upper Limb Spasticity Unknown status NCT02074150 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12,;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
2 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
3 Early Treatment of Paroxysmal Dysautonomia and Hypertonia for Severe Brain Injured Patients by Intrathecal Baclofen Therapy Terminated NCT00221689 Phase 2 baclofen (drug)
4 Effects of Multichannel Transcranial Direct Current Stimulation to Reduce Hypertonia in Patients With Prolonged Disorders of Consciousness: a Pilot Study. Completed NCT03797573 Phase 1
5 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
6 Effects of Long-term Foam Rolling Compared to Static Stretching on Hamstring Muscle Flexibility Unknown status NCT02808923
7 A Comparison of Craniosacral Therapy vs Pelvic Floor Physical Therapy for the Treatment of Lower Urinary Tract Dysfunction in People With Multiple Sclerosis: A Pilot Study Unknown status NCT03213522
8 Impact of Listening to Low Tones Via Sterephonic Headphones on Hypertonia and Motor Function in Children With Cerebral Palsy- Randomized Controlled Study Unknown status NCT00394641
9 Assessment of the Efficacy of a Sensorimotor Approach After Maximum Three Sessions in Subjects With Symptomatic Temporomandibular Dysfunction (TMD) With Hypertonia: A Prospective, Multicenter Case Study. Unknown status NCT02632643
10 Optimal Interstimulus Interval For Consecutive H-Reflex Responses In Patients With Spasticity Completed NCT04005937
11 Myofascial Trigger Points Release With Shockwave Therapy on Pain and Function of Shoulder Hand Syndrome in Stroke Patients With Diabetic Neuropathy Completed NCT04627636
12 Quantification of Upper Extremity Hypertonia Completed NCT00285870
13 Comparing the Effect of Focused and Radial Extracorporeal Shock Waves on Post-stroke Hypertonia Completed NCT03129529
14 Hypertonia in Patients With Cerebral Palsy Completed NCT00123708
15 Initial Assessment of the Use of Surface Electromyography as a Tool for Clinical Evaluation of Hypertonia in Children Completed NCT00472914
16 Examination of Patients With Isolated Systolic Hypertonia (ISH) Under Therapy With ENEAS®. Completed NCT01074281 Enalapril maleate (10 mg) + nitrendipine (20 mg)
17 The Effects of Continuous Passive Motion on Hypertonia of Soleus in Individuals With Cerebral Palsy Completed NCT02003755
18 The Effects of Cranial Laser Reflex Technique on Hamstring Flexibility, Strength, and Pain Pressure Threshold: a Pilot Study Completed NCT03044106
19 Efficacy of HIFEM Treatments for Strengthening and Toning of Arms, Lower Limbs and Oblique Muscles Completed NCT04426526
20 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Completed NCT03176069
21 MRI Evaluation of Change in Gluteal Muscles Following the Treatment With HIFEM Device Completed NCT03815747
22 Evaluation of the Effect of the Presence Of Clowns on Pain and Anxiety Seen During Injections Botulinum Toxin in Child Completed NCT03149263
23 Efficacy of Abdominal Treatment With High-Intensity Focused Electromagnetic (HIFEM) Field Device in Women After Childbirth Completed NCT03758690
24 Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility Completed NCT03250988
25 Effectiveness of Combining Matrix Rhythm Therapy and Bobath Toncept on Increased Muscle Tone, Balance and Gait Parameters in Stroke Individuals With Spastic Hemiparesis: A Single-Blind, Randomized, Controlled Clinical Trial Completed NCT04213417
26 Using Telemedicine to Improve Spasticity Diagnosis Rates Completed NCT03211390
27 Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity Completed NCT03209960
28 MyoSense- Automated Muscle Hypertonicity Classification System Completed NCT02076581
29 A Natural History Study of hnRNP-related Disorders Recruiting NCT03492060
30 Study on Quantitative Evaluation of Muscle Tone Using Elastic Ultrasound Recruiting NCT04275401
31 The Association Between Ankle Mobility and Achilles Tendon, Plantar Fascia, Iliotibial Band Stiffness and Elasticity in Athletes Active, not recruiting NCT04737226
32 Reactibility of Muscle Volume to Ribs Mobilization According to L.Mojzisova. Enrolling by invitation NCT04685785
33 Efficacy of Dry Needling in the Spasticity of the Hemiparetic Limbs Post-stroke Not yet recruiting NCT04435561
34 Effect of Local Pressure Application on Muscle Activity and General Relaxation in Persons With Hypertonia Following Stroke Not yet recruiting NCT04188769
35 Grand Autohemo-Therapy With Oxygen-ozone on Patients With Hypertonia Terminated NCT01902602

Search NIH Clinical Center for Hypertonia

Genetic Tests for Hypertonia

Genetic tests related to Hypertonia:

# Genetic test Affiliating Genes
1 Hypertonia 29

Anatomical Context for Hypertonia

MalaCards organs/tissues related to Hypertonia:

Brain, Spinal Cord, Eye, Heart, Cortex, Skeletal Muscle, Uterus

Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 1841)
# Title Authors PMID Year
A Description of Novel Variants and Review of Phenotypic Spectrum in UBA5-related Early Epileptic Encephalopathy. 61
33811063 2021
Partial Division of Puborectalis Muscle with Lateral Internal Sphincterotomy: A Novel Surgical Technique for Management of Anal Hypertonia-Associated Anismus. 61
33481084 2021
Neurobehaviour of very preterm infants at term equivalent age is related to early childhood outcomes. 61
32985000 2021
Trapped fourth ventricle: A case report and review of literature. 61
33621724 2021
Muscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity. 61
33725695 2021
Re. Alcantara et al. Cryotherapy reduces muscle hypertonia, but does not affect lower limb strength or gait kinematics post-stroke: a randomized controlled crossover study. Top Stroke Rehabil 2019; 26(4): 267-280. 61
32886572 2021
Dravet syndrome with parkinsonian symptoms and intact dopaminergic neurons: A case report. 61
33199159 2021
Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia. 61
33794243 2021
Musculoskeletal Pathology in Cerebral Palsy: A Classification System and Reliability Study. 61
33807084 2021
Diaphragm neuromuscular transmission failure in a mouse model of an early-onset neuromotor disorder. 61
33382958 2021
Early escitalopram administration as a preemptive treatment strategy against spasticity after contusive spinal cord injury in rats. 61
33782426 2021
Combinatorial K-Means Clustering as a Machine Learning Tool Applied to Diabetes Mellitus Type 2. 61
33671157 2021
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. 61
33652762 2021
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. 61
33553620 2021
Contractile function of detrusor smooth muscle from children with posterior urethral valves - The role of fibrosis. 61
33214068 2021
Clinical value of omega-3 polyunsaturated fatty acid supplementation in chronic obstructive pulmonary disease 61
33388735 2021
The adverse effects of bisphosphonates in breast cancer: A systematic review and network meta-analysis. 61
33544765 2021
Case Report: Ziprasidone induced neuroleptic malignant syndrome. 61
33763203 2021
The Use of Botulinum Toxin for Treatment of Spasticity. 61
31820170 2021
Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report. 61
33397303 2021
Patterns of atypical muscle tone in the general infant population - Prevalence and associations with perinatal risk and neurodevelopmental status. 61
33220644 2021
Introduction to spasticity and related mouse models. 61
33007294 2021
Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function. 61
33393410 2021
Congenital immobility and stiffness related to biallelic ATAD1 variants. 61
33134516 2020
Growth and survival characteristics of spa mice. 61
33532707 2020
Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay. 61
33318932 2020
Cluster analysis of impairment measures to inform an evidence-based classification structure in RaceRunning, a new World Para Athletics event for athletes with hypertonia, ataxia or athetosis. 61
33337948 2020
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. 61
33159716 2020
Anthropometrical Features of Para-Footballers According to Their Cerebral Palsy Profiles and Compared to Controls. 61
33291750 2020
Relations between knee and ankle muscle coactivation and temporospatial gait measures in patients without hypertonia early after stroke. 61
33063171 2020
Biomechanics of starting, sprinting and submaximal running in athletes with brain impairment: A systematic review. 61
32507448 2020
Long term outcomes of fissurectomy and anoplasty for chronic anterior anal fissure without hypertonia: low recurrences and continence conservation. 61
33764329 2020
Successful surgical treatment of a rare, large adrenal hemangioma 61
33226356 2020
Speech-language disorders in children with congenital Zika virus syndrome: A systematic review. 61
32853874 2020
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. 61
33153448 2020
Movement disorders in children with congenital Zika virus syndrome. 61
32682638 2020
The orthopaedic aspect of spastic cerebral palsy. 61
33214743 2020
The Impact of Intrathecal Baclofen Therapy on Health-related Quality of Life for Children with Marked Hypertonia. 61
32338172 2020
Analgesic injection of botulinum toxin in anal fissures is efficient and can be performed safely in patients actively receiving chemotherapy. 61
32712827 2020
Conus-level combined dorsal and ventral lumbar rhizotomy for treatment of mixed hypertonia: technical note and complications. 61
33036004 2020
Fifteen-minute consultation: A clinical approach to the management of the child with hypertonia. 61
32051164 2020
Knee Muscle Stretch Reflex Responses After an Intrathecal Baclofen Bolus in Neurological Patients With Moderate-to-Severe Hypertonia. 61
32023360 2020
Toxicoepidemiology and predictors of death in 2,4-dinitrophenol (DNP) toxicity. 61
33021407 2020
Surgical Sphincter Saving Approach and Topical Nifedipine for Chronic Anal Fissure with Hypertonic Internal Anal Sphincter. 61
33138895 2020
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS). 61
32531460 2020
[Anal tone: Physiology, clinical and instrumental characteristics]. 61
32636059 2020
Death in delirious palliative-care patients occurs irrespective of age: A prospective, observational cohort study of 229 delirious palliative-care patients. 61
32928325 2020
Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications. 61
32548670 2020
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. 61
31868227 2020
Resistance training in stroke rehabilitation: systematic review and meta-analysis. 61
32527148 2020

Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) Microsatellite Pathogenic 180197 rs727503773 GRCh37: X:53439900-53439902
GRCh38: X:53412950-53412952
2 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
3 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 GRCh37: 17:2339561-2826073
4 PRORP NM_014672.4(PRORP):c.1197dup (p.Ser400fs) Duplication Likely pathogenic 638210 rs764714439 GRCh37: 14:35649901-35649902
GRCh38: 14:35180695-35180696
5 PRORP NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln) SNV Likely pathogenic 638209 rs777185638 GRCh37: 14:35735991-35735991
GRCh38: 14:35266785-35266785
6 OTX2 NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) Indel Likely pathogenic 523565 rs1555350397 GRCh37: 14:57270986-57270988
GRCh38: 14:56804268-56804270
7 CASK NM_001367721.1(CASK):c.2236+1delinsAT Indel Likely pathogenic 523464 rs1555975523 GRCh37: X:41394145-41394145
GRCh38: X:41534892-41534892
8 ASXL1 NM_015338.5(ASXL1):c.664G>A (p.Glu222Lys) SNV Uncertain significance 433179 rs780662350 GRCh37: 20:31017802-31017802
GRCh38: 20:32429999-32429999
9 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain significance 386521 rs563345694 GRCh37: 19:13323262-13323262
GRCh38: 19:13212448-13212448
10 COL6A2 NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala) SNV Uncertain significance 598977 rs753298014 GRCh37: 21:47545737-47545737
GRCh38: 21:46125823-46125823

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

Pathways for Hypertonia

Pathways related to Hypertonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.5 HGS GNB1

GO Terms for Hypertonia

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

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 8.62 TSEN54 PRORP

Sources for Hypertonia

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