MCID: HMF004
MIFTS: 42

Hemifacial Spasm

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemifacial Spasm

MalaCards integrated aliases for Hemifacial Spasm:

Name: Hemifacial Spasm 54 29

Classifications:



Summaries for Hemifacial Spasm

NINDS : 54 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 hemangioma and hemifacial spasm, familial. An important gene associated with Hemifacial Spasm is FLT4 (Fms Related Tyrosine Kinase 4), and among its related pathways/superpathways are PI3K-Akt signaling pathway and VEGF Pathway (Qiagen). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone, and related phenotypes are liver/biliary system and reproductive system

Wikipedia : 76 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 137)
# Related Disease Score Top Affiliating Genes
1 hemangioma 29.8 FLT4 VEGFA
2 hemifacial spasm, familial 12.7
3 blepharospasm 10.9
4 trigeminal neuralgia 10.8
5 dystonia 10.5
6 blepharospasm, benign essential 10.4
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
8 glossopharyngeal neuralgia 10.4
9 arteriovenous malformation 10.4
10 torticollis 10.3
11 focal dystonia 10.3
12 cervical dystonia 10.3
13 bell's palsy 10.3
14 multiple sclerosis 10.2
15 astrocytoma 10.2
16 arachnoid cysts 10.2
17 headache 10.2
18 lymphedema, hereditary, ii 10.2
19 facial paralysis 10.2
20 intracranial hypertension 10.2
21 chiari malformation 10.2
22 glioma 10.2
23 hydrocele 10.1 FLT4 VEGFA
24 lymphangioma 10.1 FLT4 VEGFA
25 arteriovenous malformations of the brain 10.1
26 epidermoid cysts 10.1
27 hemifacial hyperplasia 10.1
28 anxiety 10.1
29 arteriovenous fistula 10.1
30 oromandibular dystonia 10.1
31 entropion 10.1
32 cranial nerve palsy 10.1
33 movement disease 10.1
34 paget's disease of bone 10.1
35 cluster headache 10.1
36 pilocytic astrocytoma 10.1
37 tremor 10.1
38 lymphangiosarcoma 10.1 FLT4 VEGFA
39 angiosarcoma 10.1 FLT4 VEGFA
40 vascular cancer 10.1 FLT4 VEGFA
41 breast carcinoma in situ 10.1 FLT4 VEGFA
42 retinal vascular occlusion 10.0 MTHFR VEGFA
43 gastric cardia carcinoma 10.0 MTHFR TYMS
44 central retinal vein occlusion 10.0 MTHFR VEGFA
45 retinal vein occlusion 10.0 MTHFR VEGFA
46 cardia cancer 10.0 MTHFR TYMS
47 retinal artery occlusion 10.0 MTHFR VEGFA
48 adult acute lymphocytic leukemia 10.0 MTHFR TYMS
49 acute lymphocytic leukemia 10.0 MTHFR TYMS
50 vein disease 10.0 MTHFR VEGFA

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.26 FLT4 MTHFR NOS3 VEGFA
2 reproductive system MP:0005389 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 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
2 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
4 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
6 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
7 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
8 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
11 Pharmaceutical Solutions Phase 4
12
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
13
Desflurane Approved 57041-67-5 42113
14
Isoflurane Approved, Vet_approved 26675-46-7 3763
15
Glucosamine Approved, Investigational 3416-24-8 439213
16
Methylcobalamin Approved, Experimental, Investigational Early Phase 1 13422-55-4
17
Zinc Approved, Investigational Not Applicable 7440-66-6
18 tannic acid Approved Not Applicable
19
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
20
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
21 Anesthetics, Inhalation
22 Anesthetics, General
23 Anesthetics ,Not Applicable
24 Central Nervous System Depressants ,Not Applicable
25 Hypolipidemic Agents
26 Hypoglycemic Agents
27 Lipid Regulating Agents
28 Antimetabolites
29 Anticoagulants
30 Fibrinolytic Agents
31 Glucuronyl glucosamine glycan sulfate
32 Micronutrients Not Applicable
33 Zinc Supplement Not Applicable
34 Trace Elements Not Applicable
35 Anesthetics, Local Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm Active, not recruiting NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
2 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
3 Assessment of Effectiveness and Safety of Dysport® for the Treatment of Hemifacial Spasm Completed NCT00276315 Phase 3 Botulinum type A toxin (Dysport®) - one single injection
4 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
5 Hemifacial Spasm and Desflurane Unknown status NCT01726725 desflurane
6 Observe Abnormal Potential From the Offending Vessel to the Facial Muscles of HFS Patients Unknown status NCT01271634
7 Autologous Adipose Mesenchymal Stem Cell Transplantation in the Treatment of Patients With Hemifacial Spasm Unknown status NCT02853942 Early Phase 1 Mecobalamin
8 An RCT of a Patient-initiated Treatment Service for BEB and HFS Unknown status NCT02577224 Not Applicable
9 Testing the Effect of Zinc Supplementation to Improve the Treatment Effect of Botulinum Toxin for Oculofacial Spasm Unknown status NCT01546805 Not Applicable Zinc Supplement;Sugar pill
10 Effect of Acupuncture on Inflammation and Immune Function After Craniotomy Unknown status NCT02761096 Not Applicable
11 Effect of Hemifacial Spasm on Intraocular Pressure Measurement Completed NCT03390803
12 A Multicenter, Observational Study to Evaluate Clinical Manifestation, Diagnosis and Treatment of Primary Hemifacial Spasm in Chinese Patients Completed NCT01728428
13 Movement Disorder Survey in East China Completed NCT01168388
14 Determination of Target of Adequate Partial Neuromuscular Blockade for Electrophysiologic Monitoring During Microvascular Decompression Surgery Completed NCT01613781 Not Applicable
15 Determination of Target of Adequate Partial Neuromuscular Blockade for Electrophysiologic Monitoring During Microvascular Decompression Surgery Completed NCT01598961 Not Applicable
16 Post Marketing Surveillance Study of Dysport Completed NCT00210431
17 Botulinum Toxin A in the Treatment of Hemifacial Spasm Recruiting NCT03306940 Not Applicable Botulinum Toxin Type A
18 Blepharospasm Tools Recruiting NCT02780336
19 Diagnostic Test of Choice for HELPS Syndrome Not yet recruiting NCT03126955
20 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:

41
Eye, Brain, Bone, Testes, Heart, Kidney, Thyroid

Publications for Hemifacial Spasm

Articles related to Hemifacial Spasm:

(show top 50) (show all 1005)
# Title Authors Year
1
An improved methodology for intraoperative monitoring of the lateral spreading response during surgery for hemifacial spasm. ( 29691117 )
2018
2
Imaging of hemifacial spasm. ( 29705020 )
2018
3
Blepharospasm and Hemifacial Spasm. ( 29239872 )
2018
4
Quantitative study of the correlation between cerebellar retraction factors and hearing loss following microvascular decompression for hemifacial spasm. ( 29075904 )
2018
5
Surgical Myectomy for Essential Blepharospasm and Hemifacial Spasm. ( 29239878 )
2018
6
"Macrovascular" Decompression of Dolichoectatic Vertebral Artery Causing Hemifacial Spasm Using Goretex Sling: 2-Dimensional Operative Video. ( 29790968 )
2018
7
Efficacy of Biomedical Glue Sling Technique Versus Traditional Technique for Microvascular Decompression for Hemifacial Spasm with Refractory Hypertension. ( 29146437 )
2018
8
Letter to the Editor. Delayed facial palsy after microvascular decompression for hemifacial spasm. ( 29749909 )
2018
9
Facial Myokymia and Hemifacial Spasm in Multiple Sclerosis: A Descriptive Study on Clinical Features and Treatment Outcomes. ( 29266036 )
2018
10
Mobilization of the Anterior/Posterior Inferior Cerebellar Artery on the Cerebellar Surface in Microvascular Decompression Surgery for Hemifacial Spasm: Potential Effect on Hearing Preservation. ( 29790978 )
2018
11
Bridging veins and veins of the brainstem in microvascular decompression surgery for trigeminal neuralgia and hemifacial spasm. ( 29961378 )
2018
12
Long-Term Efficacy of Initial Microvascular Decompression Versus Subsequent Microvascular Decompression for Idiopathic Hemifacial Spasm. ( 29074421 )
2018
13
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). ( 29971196 )
2018
14
The critical warning sign of real-time brainstem auditory evoked potentials during microvascular decompression for hemifacial spasm. ( 29342440 )
2018
15
Isolated hemifacial spasm presenting as unilateral, involuntary ear movements. ( 29329937 )
2018
16
The conflicting vessels in hemifacial spasm: Literature review and anatomical-surgical implications. ( 29680283 )
2018
17
Surgical anatomy for hemifacial spasm. ( 29779610 )
2018
18
Microvascular Decompression for Patients With Hemifacial Spasm Associated With Common Trunk Anomaly of the Cerebellar Arteries-Case Study and Review of Literature. ( 29351689 )
2018
19
Botulinum Toxins for Treating Essential Blepharospasm and Hemifacial Spasm. ( 29239877 )
2018
20
Endoscope-assisted retrosigmoid approach in hemifacial spasm: our experience. ( 29784621 )
2018
21
Successive occurrence of vertebrobasilar dolichectasia induced trigeminal neuralgia, vestibular paroxysmia and hemifacial spasm: A case report. ( 29924039 )
2018
22
Hemifacial Spasm as Rare Clinical Presentation of Vestibular Schwannomas. ( 29852302 )
2018
23
Hemifacial spasm after eight-and-a-half syndrome. ( 29730020 )
2018
24
How I do it: endoscopic microvascular decompression for hemifacial spasm associated with the vertebral artery. ( 29143107 )
2018
25
Intraoperative monitoring of Z-L response (ZLR) and abnormal muscle response (AMR) during microvascular decompression for hemifacial spasm. Interpreting the role of ZLR. ( 29344780 )
2018
26
Hemifacial spasm associated with other cranial nerve syndromes: Literature review. ( 29680282 )
2018
27
What Should We Do for Those Hemifacial Spasm Patients Without Efficacy Following Microvascular Decompression: Expectation of Delayed Relief or Early Reoperation? ( 29191535 )
2018
28
Reorganization of sensory input at brainstem in hemifacial spasm and postparalytic facial syndrome. ( 29124438 )
2018
29
Endoscope-assisted decompression of facial nerve for treatment of hemifacial spasm. ( 29705021 )
2018
30
Severe Hemifacial Spasm is a Predictor of Severe Indentation and Facial Palsy after Microdecompression Surgery. ( 29856152 )
2018
31
Introduction to primary hemifacial spasm: A neurosurgical disease. ( 29789138 )
2018
32
Long-Term Outcome of Repeat Microvascular Decompression for Hemifacial Spasm. ( 29203317 )
2018
33
Increase lipid tear thickness after botulinum neurotoxin A injection in patients with blepharospasm and hemifacial spasm. ( 29849166 )
2018
34
Microvascular Decompression for Hemifacial Spasm. ( 29239883 )
2018
35
An investigation into quality of life improvement in patients undergoing microvascular decompression for hemifacial spasm. ( 28186450 )
2018
36
Neurological Imaging for Hemifacial Spasm. ( 29239882 )
2018
37
Microvascular decompression for hemifacial spasm: Outcome on spasm and complications. A review. ( 29454467 )
2018
38
Multimodal Image-Based Virtual Reality Presurgical Simulation and Evaluation for Trigeminal Neuralgia and Hemifacial Spasm. ( 29476993 )
2018
39
Effect of Hemifacial Spasm on Intraocular Pressure Measurement. ( 29545951 )
2018
40
An atypical presentation of hemifacial spasm secondary to neurovascular compression. ( 29554395 )
2018
41
Microvascular Decompression of Facial Nerve and Pexy of the Left Vertebral Artery for Left Hemifacial Spasm: 3-Dimensional Operative Video. ( 29617905 )
2018
42
A new method for monitoring abnormal muscle response in hemifacial spasm: A prospective study. ( 29625882 )
2018
43
Diagnosis of primary hemifacial spasm. ( 29673578 )
2018
44
New insights into the pathophysiology of primary hemifacial spasm. ( 29673579 )
2018
45
Hemodynamic features of offending vessels at neurovascular contact in patients with trigeminal neuralgia and hemifacial spasm. ( 29979116 )
2018
46
Prognosis of Symptoms and Complications After Microvascular Decompression for Hemifacial Spasm: A Single-Center Experience. ( 29981914 )
2018
47
Botulinum toxin therapy of hemifacial spasm: bilateral injections can reduce facial asymmetry. ( 29987587 )
2018
48
The Outcome of Sling Retraction Technique in Microvascular Decompression for Hemifacial Spasm. ( 30015734 )
2018
49
Involved Small Arteries in Patients Who Underwent Microvascular Decompression for Hemifacial Spasm. ( 30017761 )
2018
50
Is hemifacial spasm affected by changes in the heart rate? A study using heart rate variability analysis. ( 30033222 )
2018

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
12.54 FLT4 NOS3 VEGFA
2
Show member pathways
11.87 FLT4 NOS3 VEGFA
3
Show member pathways
11.67 MTHFR TYMS
4 11.51 NOS3 VEGFA
5 11.49 NOS3 VEGFA
6 11.43 FLT4 NOS3
7
Show member pathways
11.38 FLT4 NOS3
8
Show member pathways
11.28 TYMS VEGFA
9 11.14 NOS3 VEGFA
10 10.99 FLT4 VEGFA
11
Show member pathways
10.76 FLT4 NOS3 VEGFA
12 10.75 MTHFR TYMS
13 10.54 NOS3 VEGFA
14
Show member pathways
10.16 FLT4 VEGFA

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

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 MTHFR NOS3
2 NADP binding GO:0050661 8.62 MTHFR NOS3

Sources for Hemifacial Spasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....