MCID: HMF004
MIFTS: 38

Hemifacial Spasm

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemifacial Spasm

MalaCards integrated aliases for Hemifacial Spasm:

Name: Hemifacial Spasm 53 29

Classifications:



Summaries for Hemifacial Spasm

NINDS : 53 Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder occurs in both men and women, although it more frequently affects middle-aged or elderly women. It is much more common in the Asian population.  The first symptom is usually an intermittent twitching of the eyelid muscle that can lead to forced closure of the eye. The spasm may then gradually spread to involve the muscles of the lower face, which may cause the mouth to be pulled to one side. Eventually the spasms involve all of the muscles on one side of the face almost continuously. The condition may be caused by a facial nerve injury, or a tumor, or it may have no apparent cause. Rarely, doctors see individuals with spasm on both sides of the face.  Most often hemifacial spasm is caused by a blood vessel pressing on the facial nerve at the place where it exits the brainstem.

MalaCards based summary : Hemifacial Spasm is related to moyamoya disease 1 and sleep apnea. An important gene associated with Hemifacial Spasm is FLT4 (Fms Related Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are PI3K-Akt signaling pathway and VEGF Pathway (Qiagen). The drugs Pharmaceutical Solutions and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related phenotype is liver/biliary system.

Wikipedia : 74 Hemifacial spasm (HFS) is a rare neuromuscular disease characterized by irregular, involuntary muscle... more...

Related Diseases for Hemifacial Spasm

Diseases in the Hemifacial Spasm family:

Hemifacial Spasm, Familial

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

(show top 50) (show all 281)
# Related Disease Score Top Affiliating Genes
1 moyamoya disease 1 29.9 VEGFA MTHFR
2 sleep apnea 29.7 VEGFA NOS3
3 atherosclerosis susceptibility 29.3 VEGFA NOS3 MTHFR
4 hemifacial spasm, familial 13.0
5 blepharospasm 11.0
6 trigeminal neuralgia 11.0
7 facial paralysis 10.9
8 facial spasm 10.8
9 dystonia 10.8
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
11 ptosis 10.7
12 movement disease 10.7
13 pica disease 10.7
14 branchiootic syndrome 1 10.6
15 blepharospasm, benign essential 10.6
16 cervical dystonia 10.6
17 bell's palsy 10.6
18 meningioma, radiation-induced 10.6
19 meningioma, familial 10.6
20 spinal meningioma 10.6
21 secretory meningioma 10.6
22 lymphoplasmacyte-rich meningioma 10.6
23 glossopharyngeal neuralgia 10.6
24 focal dystonia 10.5
25 torticollis 10.5
26 sensorineural hearing loss 10.5
27 arteriovenous malformation 10.5
28 seizures, benign familial neonatal, 1 10.5
29 neurilemmoma 10.5
30 rare surgical neurologic disease 10.5
31 arthrogryposis, mental retardation, and seizures 10.4
32 lipomatosis, multiple 10.4
33 oromandibular dystonia 10.4
34 pleomorphic lipoma 10.4
35 tic disorder 10.4
36 cerebrospinal fluid leak 10.4
37 chiari malformation 10.4
38 aneurysm 10.4
39 acoustic neuroma 10.4
40 47,xyy 10.4
41 myoclonus 10.4
42 epidermoid cysts 10.3
43 lymphatic malformation 5 10.3
44 arachnoid cysts, intracranial 10.3
45 mammary paget's disease 10.3
46 cranial nerve palsy 10.3
47 headache 10.3
48 migraine with or without aura 1 10.3
49 hydrocephalus 10.3
50 lagophthalmos 10.3

Graphical network of the top 20 diseases related to Hemifacial Spasm:



Diseases related to Hemifacial Spasm

Symptoms & Phenotypes for Hemifacial Spasm

MGI Mouse Phenotypes related to Hemifacial Spasm:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 FLT4 MTHFR NOS3 VEGFA

Drugs & Therapeutics for Hemifacial Spasm

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
3 abobotulinumtoxinA Phase 3
4 Acetylcholine Release Inhibitors Phase 3
5 Neurotransmitter Agents Phase 3
6 Neuromuscular Agents Phase 3
7 Cholinergic Agents Phase 3
8 Botulinum Toxins Phase 3
9 Botulinum Toxins, Type A Phase 3
10
Methylcobalamin Approved, Investigational Early Phase 1 13422-55-4
11
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
12
Desflurane Approved 57041-67-5 42113
13
Zinc Approved, Investigational 7440-66-6 32051
14
tannic acid Approved 1401-55-4
15
Sevoflurane Approved, Vet_approved 28523-86-6 5206
16
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
17 Anesthetics, General
18 Anesthetics, Inhalation
19 Micronutrients
20 Trace Elements
21 Nutrients
22 Zinc Supplement
23 Central Nervous System Depressants
24 Anesthetics
25 Anesthetics, Local
26 Lidocaine, Prilocaine Drug Combination

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 DOUBLE BLIND, PLACEBO CONTROLLED, RANDOMIZED CLINICAL TRIAL OF THE SAFETY AND EFFICACY OF BOTULINUM TOXIN TYPE A (BOTOX) IN BRUXISM Unknown status NCT00908050 Phase 4 Botulinum toxin type A
2 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
3 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
4 A Phase III, Multicentre, Randomised, Assessor-blind, Parallel Groups, Reference Drug Controlled Study to Assess the Efficacy and Safety of a Single Administration, by Subcutaneous Injection of Dysport® for the Treatment of Hemifacial Spasm Completed NCT00276315 Phase 3
5 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
6 Effect on Tear Functions of Pretarsal and Preseptal Techniques of Botulinum Toxin Type A Injection in Hemifacial Spasm Unknown status NCT01564979 Phase 2 preseptal injection of botulinum toxin type A;pretarsal injection of Botulinum toxin type A
7 Does Bilateral Botulinum Toxin A in Patients With Hemifacial Spasm Improve Facial Symmetry Unilateral and Bilateral Injection of Botulinum Toxin A in Patients With Hemifacial Spasm? A Prospective, Randomized, Controlled Study Unknown status NCT03306940 Botulinum Toxin Type A
8 Observation of the Abnormal Potential From the Offending Vessel to the Facial Muscles of Hemifacial Spasm Patients Unknown status NCT01271634
9 The Research of Autologous Adipose Mesenchymal Stem Cell Transplantation for Treatment of Facial 、Auditory Nerve Dysfunction of Patients With Hemifacial Spasm After Microvascular Decompression. Unknown status NCT02853942 Early Phase 1 Mecobalamin
10 Investigating the Etiology of Hemifacial Spasm (HFS): The Role of Desflurane Unknown status NCT01726725 desflurane
11 The Effect of Zinc Supplementation on the Efficacy and Duration of Botulinum Toxin for the Treatment of Oculofacial Spasm Disorders Unknown status NCT01546805 Zinc Supplement;Sugar pill
12 A Randomised Controlled Trial to Explore the Effectiveness and Cost-effectiveness of a Patient-initiated Botulinum Toxin Treatment Model for Blepharospasm and Hemifacial Spasm Compared to Treatment as Usual Unknown status NCT02577224
13 Microvascular Decompression for HELPS Syndrome: What is the Best Diagnostic Test? Unknown status NCT03126955
14 Effect of Hemifacial Spasm on Intraocular Pressure Measurement Completed NCT03390803
15 A Multicenter, Observational Study to Evaluate Clinical Manifestation, Diagnosis and Treatment of Primary Hemifacial Spasm in Chinese Patients Completed NCT01728428
16 Movement Disorder Survey in East China Completed NCT01168388
17 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research. Completed NCT00210431
18 Determination of Target of Adequate Partial Neuromuscular Blockade With Sevoflurane Anesthesia for Electrophysiologic Monitoring During Microvascular Decompression Surgery Completed NCT01613781
19 Determination of Target of Adequate Partial Neuromuscular Blockade for Electrophysiologic Monitoring During Microvascular Decompression Surgery Completed NCT01598961
20 Effect of Acupuncture on Inflammation and Immune Function After Craniotomy Completed NCT02761096
21 Assessment The Effects of Proprioceptive Neuromuscular Facilitation, Myofascial Releasing Maneuvers and Home Exercises on Pain and Jaw Function in Patients With Bruxism Completed NCT03499665
22 Jitter's Recording in a Spastic Muscle Treated by Botulinum Toxin Recruiting NCT04002843
23 CSF Leak Following Microvascular Decompression: the Benefit of Routine Postoperative Lumbar Tap Withdrawn NCT01932255

Search NIH Clinical Center for Hemifacial Spasm

Genetic Tests for Hemifacial Spasm

Genetic tests related to Hemifacial Spasm:

# Genetic test Affiliating Genes
1 Hemifacial Spasm 29

Anatomical Context for Hemifacial Spasm

MalaCards organs/tissues related to Hemifacial Spasm:

40
Eye, Brain, Bone, Testes, Heart, Kidney, Skin

Publications for Hemifacial Spasm

Articles related to Hemifacial Spasm:

(show top 50) (show all 1945)
# Title Authors PMID Year
1
Flanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects. 61
32024200 2020
2
Neurotologic Complications Following Microvascular Decompression: A Retrospective Study. 61
32021748 2020
3
Role of Fused Three-Dimensional Time-of-Flight Magnetic Resonance Angiography and 3-Dimensional T2-Weighted Imaging Sequences in Neurovascular Compression. 61
31493603 2020
4
Comments on: Ocular surface status in patients with hemifacial spasm under long-lasting treatment with botulinum A toxin: A comparative fellow eye study. 61
31856551 2020
5
Response to comments on: Ocular surface status in patients with hemifacial spasm under long-lasting treatment with botulinum A toxin: A comparative fellow eye study. 61
31856552 2020
6
Corrigendum to 'Missed Culprits in Failed Microvascular Decompression Surgery for Hemifacial Spasm and Clinical Outcomes of Redo Surgery' [World Neurosurgery 129 (2019) e627-e633]. 61
31680047 2020
7
Using strength-duration analysis to identify the afferent limb of the lateral spread response in hemifacial spasm patients during microvascular decompression surgery. 61
31973918 2020
8
Gamma knife surgery in the treatment of intracanalicular vestibular schwannomas. 61
31922606 2020
9
Strengthened thalamoparietal functional connectivity in patients with hemifacial spasm: a cross-sectional resting-state fMRI study. 61
31904268 2020
10
Prognostic value of abnormal muscle response during microvascular decompression for hemifacial spasm: a meta-analysis. 61
32006731 2020
11
Arachnoid bands and venous compression as rare causes of hemifacial spasm: analysis of etiology in 353 patients. 61
31754846 2020
12
Loop characteristics and audio-vestibular symptoms or hemifacial spasm: is there a correlation? A multiplanar MRI study. 61
31338653 2020
13
Ameliorating Effect of Microvascular Decompression on Patients with Coexistence of Hemifacial Spasm and Glossopharyngeal Neuralgia: A Retrospective Study. 61
31442648 2020
14
Clinical characteristics of petrosal cholesteatoma and value of MRI-DWI in the diagnosis. 61
31876216 2019
15
Preservation of the Lesser Occipital Nerve Prevents Occipital Sensory Disturbance After Microvascular Decompression: Long-Term Results. 61
31843728 2019
16
Extradural Transjugular Transsigmoid Approach with High Cervical Exposure for Glomus Jugulare Tumor. 61
31750071 2019
17
Acupuncture therapy for patients with hemifacial spasm: A protocol of systematic review and meta-analysis. 61
31860984 2019
18
Analysis of blink activity and anomalous eyelid movements in patients with hemifacial spasm. 61
31863396 2019
19
More than hemifacial spasm? A case of unilateral facial spasms with systematic review of red flags. 61
31683060 2019
20
Hypertension and Diabetes are Associated With Clinical Characteristics in Patients Undergoing Microvascular Decompression for Hemifacial Spasm. 61
31842083 2019
21
Prognostic value of lateral spread response during microvascular decompression for hemifacial spasm. 61
30982379 2019
22
Abnormal brain white matter in patients with hemifacial spasm: a diffusion tensor imaging study. 61
31792569 2019
23
Arterial Sling Decompression for Hemifacial Spasm. 61
31470160 2019
24
Can the Jankovic-assessment be used as an alternative to electromyography? A cross-sectional study on facial dystonia patients treated with Botulinum toxin. 61
31477366 2019
25
Long-term Safety and Dosing of OnabotulinumtoxinA: A Prospective, Observational Study. 61
31256770 2019
26
Microvascular decompression in patients with hemifacial spasm. 61
31617334 2019
27
Trigeminal neuralgia plus hemifacial spasm caused by a dilated artery: a case of painful tic convulsif syndrome. 61
31741455 2019
28
Clinical Outcome After Microvascular Decompression According to the Progression Rates of Hemifacial Spasm. 61
31734426 2019
29
Surgical Outcomes of Revision Microvascular Decompression for Persistent or Recurrent Hemifacial Spasm After Surgery: Analysis of Radiologic and Intraoperative Findings. 61
31382068 2019
30
Prosthesis Used in Microvascular Decompressions: A Multicenter Survey in Japan Focusing on Adverse Events. 61
31207376 2019
31
Vascular Complications in Microvascular Decompression: A Survey of 4000 Operations. 61
31254687 2019
32
The long-term effects of microvascular decompression on social phobia and health-related quality of life in patients with hemifacial spasm: a 3-year prospective study. 61
31368052 2019
33
Outcomes and Safety of Overlapping Surgery in Patients Undergoing Microvascular Decompression for Hemifacial Spasm and Trigeminal Neuralgia. 61
31323398 2019
34
Clinical Research on Delayed Cure after Microvascular Decompression for Hemifacial Spasm. 61
31600810 2019
35
AMR monitoring in microvascular decompression for hemifacial spasm: 115 cases report. 61
31648966 2019
36
An Intraoperative Multibranch Abnormal Muscle Response Monitoring Method During Microvascular Decompression for Hemifacial Spasm. 61
31639503 2019
37
Short-term versus long-term outcomes of microvascular decompression for hemifacial spasm. 61
31392569 2019
38
Different Roles of Microvascular Decompression in Hemifacial Spasm and Trigeminal Neuralgia. 61
31534894 2019
39
Hemifacial Spasm Caused by Small Epidermoid Tumor, Misinterpreted as Delayed Secondary Hemifacial Spasm Caused by Vestibular Schwannoma Treated with Gamma Knife Surgery. 61
31349082 2019
40
Ocular surface status in patients with hemifacial spasm under long-lasting treatment with botulinum A toxin: A comparative fellow eye study. 61
31436182 2019
41
Consensus of the Iberoamerican Oculoplastic Society for diagnosis and management of facial dystonia. 61
31272707 2019
42
Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves: Analysis of 37 Cases and Literature Review. 61
31158546 2019
43
[Application of complete endoscopic technique in microvascular decompression related tovertebrobasilar artery compression]. 61
31510719 2019
44
Validation of the Hemifacial Spasm Grading Scale: a clinical tool for hemifacial spasm. 61
31076941 2019
45
Clinical analysis of repeat microvascular decompression for recurrent hemifacial spasm. 61
30963475 2019
46
Comparison of techniques of botulinum toxin injections for blepharospasm and hemifacial spasm. 61
31251420 2019
47
Missed Culprits in Failed Microvascular Decompression Surgery for Hemifacial Spasm and Clinical Outcomes of Redo Surgery. 61
31158550 2019
48
Endovascular Flow Diversion for Hemifacial Spasm Induced by a Vertebral Artery Aneurysm: First Experience. 61
30476260 2019
49
A Rare Potential Compression Can Be Avoided by Lateral Spread Response Recordings During Microvascular Decompression for Hemifacial Spasm. 61
30921064 2019
50
Surgical effect and electrophysiological study of patients with hemifacial spasm treated with botulinum toxin or acupuncture before microvascular decompression. 61
31351214 2019

Variations for Hemifacial Spasm

Expression for Hemifacial Spasm

Search GEO for disease gene expression data for Hemifacial Spasm.

Pathways for Hemifacial Spasm

Pathways related to Hemifacial Spasm according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 VEGFA NOS3 FLT4
2
Show member pathways
11.87 VEGFA NOS3 FLT4
3 11.56 VEGFA NOS3
4 11.51 VEGFA NOS3
5 11.44 NOS3 FLT4
6
Show member pathways
11.4 NOS3 FLT4
7
Show member pathways
11.33 TYMS MTHFR
8
Show member pathways
11.28 VEGFA TYMS
9 11.14 VEGFA NOS3
10 11 VEGFA FLT4
11
Show member pathways
10.76 VEGFA NOS3 FLT4
12 10.75 TYMS MTHFR
13 10.54 VEGFA NOS3
14
Show member pathways
10.16 VEGFA FLT4

GO Terms for Hemifacial Spasm

Biological processes related to Hemifacial Spasm according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.54 VEGFA NOS3 FLT4
2 lung development GO:0030324 9.52 VEGFA NOS3
3 positive regulation of endothelial cell proliferation GO:0001938 9.51 VEGFA FLT4
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.49 VEGFA FLT4
5 positive regulation of endothelial cell migration GO:0010595 9.48 VEGFA FLT4
6 positive regulation of blood vessel endothelial cell migration GO:0043536 9.46 VEGFA NOS3
7 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.43 VEGFA FLT4
8 sprouting angiogenesis GO:0002040 9.4 VEGFA FLT4
9 vascular endothelial growth factor signaling pathway GO:0038084 9.32 VEGFA FLT4
10 tetrahydrofolate interconversion GO:0035999 9.26 TYMS MTHFR
11 positive regulation of protein kinase C signaling GO:0090037 9.16 VEGFA FLT4
12 tetrahydrofolate metabolic process GO:0046653 8.96 TYMS MTHFR
13 response to folic acid GO:0051593 8.62 TYMS MTHFR

Molecular functions related to Hemifacial Spasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.96 NOS3 MTHFR
2 NADP binding GO:0050661 8.62 NOS3 MTHFR

Sources for Hemifacial Spasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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