MCID: HMF011
MIFTS: 33

Hemifacial Spasm, Familial

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemifacial Spasm, Familial

MalaCards integrated aliases for Hemifacial Spasm, Familial:

Name: Hemifacial Spasm, Familial 56
Focal Myoclonus of Face 58
Hemifacial Spasm 58
Facial Hemispasm 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hemifacial spasm, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 141405
ICD10 via Orphanet 33 G51.3
Orphanet 58 ORPHA221083
MedGen 41 C1841639
SNOMED-CT via HPO 68 13753008 263681008 88425004

Summaries for Hemifacial Spasm, Familial

OMIM : 56 Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by Coad et al., 1991 and Miwa et al., 2002). (141405)

MalaCards based summary : Hemifacial Spasm, Familial, also known as focal myoclonus of face, is related to blepharospasm and trigeminal neuralgia. The drugs Pharmaceutical Solutions and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related phenotypes are abnormality of the nervous system and hemifacial spasm

Related Diseases for Hemifacial Spasm, Familial

Diseases in the Hemifacial Spasm family:

Hemifacial Spasm, Familial

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

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 blepharospasm 11.0
2 trigeminal neuralgia 11.0
3 facial paralysis 10.9
4 facial spasm 10.8
5 dystonia 10.8
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
7 ptosis 10.7
8 movement disease 10.7
9 pica disease 10.7
10 branchiootic syndrome 1 10.6
11 blepharospasm, benign essential 10.6
12 cervical dystonia 10.6
13 bell's palsy 10.6
14 meningioma, radiation-induced 10.6
15 meningioma, familial 10.6
16 spinal meningioma 10.6
17 secretory meningioma 10.6
18 lymphoplasmacyte-rich meningioma 10.6
19 glossopharyngeal neuralgia 10.6
20 focal dystonia 10.5
21 torticollis 10.5
22 sensorineural hearing loss 10.5
23 arteriovenous malformation 10.5
24 seizures, benign familial neonatal, 1 10.5
25 neurilemmoma 10.5
26 rare surgical neurologic disease 10.5
27 arthrogryposis, mental retardation, and seizures 10.4
28 lipomatosis, multiple 10.4
29 oromandibular dystonia 10.4
30 pleomorphic lipoma 10.4
31 tic disorder 10.4
32 cerebrospinal fluid leak 10.4
33 chiari malformation 10.4
34 aneurysm 10.4
35 acoustic neuroma 10.4
36 47,xyy 10.4
37 myoclonus 10.4
38 epidermoid cysts 10.3
39 lymphatic malformation 5 10.3
40 arachnoid cysts, intracranial 10.3
41 mammary paget's disease 10.3
42 cranial nerve palsy 10.3
43 headache 10.3
44 migraine with or without aura 1 10.3
45 hydrocephalus 10.3
46 lagophthalmos 10.3
47 dysphagia 10.3
48 tremor 10.3
49 astigmatism 10.3
50 cholesteatoma of middle ear 10.3

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



Diseases related to Hemifacial Spasm, Familial

Symptoms & Phenotypes for Hemifacial Spasm, Familial

Human phenotypes related to Hemifacial Spasm, Familial:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 hemifacial spasm 31 HP:0010828

Symptoms via clinical synopsis from OMIM:

56
Neuro:
hemifacial spasm
orbicularis oculi muscle twitching

Misc:
onset usually in the mid-forties

Clinical features from OMIM:

141405

Drugs & Therapeutics for Hemifacial Spasm, Familial

Drugs for Hemifacial Spasm, Familial (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 „ÄĀAuditory 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, Familial

Genetic Tests for Hemifacial Spasm, Familial

Anatomical Context for Hemifacial Spasm, Familial

MalaCards organs/tissues related to Hemifacial Spasm, Familial:

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

Publications for Hemifacial Spasm, Familial

Articles related to Hemifacial Spasm, Familial:

(show top 50) (show all 1945)
# Title Authors PMID Year
1
Familial hemifacial spasm and determinants of late onset. 61 56
19812891 2010
2
Familial hemifacial spasm: report of cases and review of literature. 61 56
11790389 2002
3
Familial hemifacial spasm associated with arterial compression of the facial nerve. Case report. 61 56
1988602 1991
4
Familial hemifacial spasm. 61 56
2302111 1990
5
Familial hemifacial spasm. 61 56
2779592 1989
6
Hemifacial spasm; a note on the etiology in two cases. 61 56
20254516 1947
7
Flanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects. 61
32024200 2020
8
Neurotologic Complications Following Microvascular Decompression: A Retrospective Study. 61
32021748 2020
9
Role of Fused Three-Dimensional Time-of-Flight Magnetic Resonance Angiography and 3-Dimensional T2-Weighted Imaging Sequences in Neurovascular Compression. 61
31493603 2020
10
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
11
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
12
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
13
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
14
Gamma knife surgery in the treatment of intracanalicular vestibular schwannomas. 61
31922606 2020
15
Strengthened thalamoparietal functional connectivity in patients with hemifacial spasm: a cross-sectional resting-state fMRI study. 61
31904268 2020
16
Prognostic value of abnormal muscle response during microvascular decompression for hemifacial spasm: a meta-analysis. 61
32006731 2020
17
Arachnoid bands and venous compression as rare causes of hemifacial spasm: analysis of etiology in 353 patients. 61
31754846 2020
18
Loop characteristics and audio-vestibular symptoms or hemifacial spasm: is there a correlation? A multiplanar MRI study. 61
31338653 2020
19
Ameliorating Effect of Microvascular Decompression on Patients with Coexistence of Hemifacial Spasm and Glossopharyngeal Neuralgia: A Retrospective Study. 61
31442648 2020
20
Clinical characteristics of petrosal cholesteatoma and value of MRI-DWI in the diagnosis. 61
31876216 2019
21
Preservation of the Lesser Occipital Nerve Prevents Occipital Sensory Disturbance After Microvascular Decompression: Long-Term Results. 61
31843728 2019
22
Extradural Transjugular Transsigmoid Approach with High Cervical Exposure for Glomus Jugulare Tumor. 61
31750071 2019
23
Acupuncture therapy for patients with hemifacial spasm: A protocol of systematic review and meta-analysis. 61
31860984 2019
24
Analysis of blink activity and anomalous eyelid movements in patients with hemifacial spasm. 61
31863396 2019
25
More than hemifacial spasm? A case of unilateral facial spasms with systematic review of red flags. 61
31683060 2019
26
Hypertension and Diabetes are Associated With Clinical Characteristics in Patients Undergoing Microvascular Decompression for Hemifacial Spasm. 61
31842083 2019
27
Prognostic value of lateral spread response during microvascular decompression for hemifacial spasm. 61
30982379 2019
28
Abnormal brain white matter in patients with hemifacial spasm: a diffusion tensor imaging study. 61
31792569 2019
29
Arterial Sling Decompression for Hemifacial Spasm. 61
31470160 2019
30
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
31
Long-term Safety and Dosing of OnabotulinumtoxinA: A Prospective, Observational Study. 61
31256770 2019
32
Microvascular decompression in patients with hemifacial spasm. 61
31617334 2019
33
Trigeminal neuralgia plus hemifacial spasm caused by a dilated artery: a case of painful tic convulsif syndrome. 61
31741455 2019
34
Clinical Outcome After Microvascular Decompression According to the Progression Rates of Hemifacial Spasm. 61
31734426 2019
35
Surgical Outcomes of Revision Microvascular Decompression for Persistent or Recurrent Hemifacial Spasm After Surgery: Analysis of Radiologic and Intraoperative Findings. 61
31382068 2019
36
Prosthesis Used in Microvascular Decompressions: A Multicenter Survey in Japan Focusing on Adverse Events. 61
31207376 2019
37
Vascular Complications in Microvascular Decompression: A Survey of 4000 Operations. 61
31254687 2019
38
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
39
Outcomes and Safety of Overlapping Surgery in Patients Undergoing Microvascular Decompression for Hemifacial Spasm and Trigeminal Neuralgia. 61
31323398 2019
40
Clinical Research on Delayed Cure after Microvascular Decompression for Hemifacial Spasm. 61
31600810 2019
41
AMR monitoring in microvascular decompression for hemifacial spasm: 115 cases report. 61
31648966 2019
42
An Intraoperative Multibranch Abnormal Muscle Response Monitoring Method During Microvascular Decompression for Hemifacial Spasm. 61
31639503 2019
43
Short-term versus long-term outcomes of microvascular decompression for hemifacial spasm. 61
31392569 2019
44
Different Roles of Microvascular Decompression in Hemifacial Spasm and Trigeminal Neuralgia. 61
31534894 2019
45
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
46
Ocular surface status in patients with hemifacial spasm under long-lasting treatment with botulinum A toxin: A comparative fellow eye study. 61
31436182 2019
47
Consensus of the Iberoamerican Oculoplastic Society for diagnosis and management of facial dystonia. 61
31272707 2019
48
Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves: Analysis of 37 Cases and Literature Review. 61
31158546 2019
49
[Application of complete endoscopic technique in microvascular decompression related tovertebrobasilar artery compression]. 61
31510719 2019
50
Validation of the Hemifacial Spasm Grading Scale: a clinical tool for hemifacial spasm. 61
31076941 2019

Variations for Hemifacial Spasm, Familial

Expression for Hemifacial Spasm, Familial

Search GEO for disease gene expression data for Hemifacial Spasm, Familial.

Pathways for Hemifacial Spasm, Familial

GO Terms for Hemifacial Spasm, Familial

Sources for Hemifacial Spasm, Familial

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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