MCID: HMF011
MIFTS: 34

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 57
Focal Myoclonus of Face 59
Hemifacial Spasm 59
Facial Hemispasm 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hemifacial spasm, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 141405
ICD10 via Orphanet 34 G51.3
Orphanet 59 ORPHA221083
MedGen 42 C1841639

Summaries for Hemifacial Spasm, Familial

OMIM : 57 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 facial paralysis. The drugs Pharmaceutical Solutions and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, 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 208)
# Related Disease Score Top Affiliating Genes
1 blepharospasm 11.0
2 facial paralysis 10.9
3 facial spasm 10.8
4 dystonia 10.8
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
6 ptosis 10.7
7 movement disease 10.7
8 pica disease 10.7
9 branchiootic syndrome 1 10.6
10 blepharospasm, benign essential 10.6
11 cervical dystonia 10.6
12 meningioma, radiation-induced 10.6
13 meningioma, familial 10.6
14 spinal meningioma 10.6
15 bell's palsy 10.6
16 secretory meningioma 10.6
17 lymphoplasmacyte-rich meningioma 10.6
18 focal dystonia 10.5
19 glossopharyngeal neuralgia 10.5
20 torticollis 10.5
21 sensorineural hearing loss 10.5
22 arteriovenous malformation 10.5
23 seizures, benign familial neonatal, 1 10.5
24 neurilemmoma 10.5
25 lipomatosis, multiple 10.4
26 arthrogryposis, mental retardation, and seizures 10.4
27 oromandibular dystonia 10.4
28 pleomorphic lipoma 10.4
29 47,xyy 10.4
30 cerebrospinal fluid leak 10.4
31 chiari malformation 10.4
32 aneurysm 10.4
33 acoustic neuroma 10.4
34 myoclonus 10.4
35 rare surgical neurologic disease 10.4
36 lymphatic malformation 5 10.3
37 tic disorder 10.3
38 mammary paget's disease 10.3
39 cranial nerve palsy 10.3
40 arachnoid cysts 10.3
41 headache 10.3
42 migraine with or without aura 1 10.3
43 hydrocephalus 10.3
44 lagophthalmos 10.3
45 congenital hydrocephalus 10.3
46 dysphagia 10.3
47 tremor 10.3
48 hemifacial spasm 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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 32 HP:0000707
2 hemifacial spasm 32 HP:0010828

Symptoms via clinical synopsis from OMIM:

57
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 27)
# 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 Neurotransmitter Agents Phase 3
4 abobotulinumtoxinA Phase 3
5 Neuromuscular Agents Phase 3
6 Cholinergic Agents Phase 3
7 Acetylcholine Release Inhibitors Phase 3
8 Peripheral Nervous System Agents Phase 3
9 Botulinum Toxins Phase 3
10 Botulinum Toxins, Type A Phase 3
11
Methylcobalamin Approved, Experimental, Investigational Early Phase 1 13422-55-4
12
Desflurane Approved 57041-67-5 42113
13
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
14
Zinc Approved, Investigational 7440-66-6 32051
15
tannic acid Approved 1401-55-4
16
Sevoflurane Approved, Vet_approved 28523-86-6 5206
17
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
18 Anesthetics, General
19 Anesthetics, Inhalation
20 Micronutrients
21 Nutrients
22 Zinc Supplement
23 Trace Elements
24 Central Nervous System Depressants
25 Anesthetics
26 Anesthetics, Local
27 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 Not yet 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 Observation of the Abnormal Potential From the Offending Vessel to the Facial Muscles of Hemifacial Spasm Patients Unknown status NCT01271634
8 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
9 Investigating the Etiology of Hemifacial Spasm (HFS): The Role of Desflurane Unknown status NCT01726725 desflurane
10 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
11 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
12 Microvascular Decompression for HELPS Syndrome: What is the Best Diagnostic Test? Unknown status NCT03126955
13 A Multicenter, Observational Study to Evaluate Clinical Manifestation, Diagnosis and Treatment of Primary Hemifacial Spasm in Chinese Patients Completed NCT01728428
14 Effect of Hemifacial Spasm on Intraocular Pressure Measurement Completed NCT03390803
15 Movement Disorder Survey in East China Completed NCT01168388
16 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
17 Determination of Target of Adequate Partial Neuromuscular Blockade With Sevoflurane Anesthesia for Electrophysiologic Monitoring During Microvascular Decompression Surgery Completed NCT01613781
18 Determination of Target of Adequate Partial Neuromuscular Blockade for Electrophysiologic Monitoring During Microvascular Decompression Surgery Completed NCT01598961
19 Effect of Acupuncture on Inflammation and Immune Function After Craniotomy Completed NCT02761096
20 Assessment The Effects of Proprioceptive Neuromuscular Facilitation, Myofascial Releasing Maneuvers and Home Exercises on Pain and Jaw Function in Patients With Bruxism Completed NCT03499665
21 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 Recruiting NCT03306940 Botulinum Toxin Type A
22 Jitter's Recording in a Spastic Muscle Treated by Botulinum Toxin Not yet 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:

41
Brain, Bone, Testes, Eye, Heart, Skin, Pons

Publications for Hemifacial Spasm, Familial

Articles related to Hemifacial Spasm, Familial:

(show top 50) (show all 1906)
# Title Authors PMID Year
1
Familial hemifacial spasm and determinants of late onset. 38 8
19812891 2010
2
Familial hemifacial spasm: report of cases and review of literature. 38 8
11790389 2002
3
Familial hemifacial spasm associated with arterial compression of the facial nerve. Case report. 38 8
1988602 1991
4
Familial hemifacial spasm. 38 8
2302111 1990
5
Familial hemifacial spasm. 38 8
2779592 1989
6
Hemifacial spasm; a note on the etiology in two cases. 38 8
20254516 1947
7
Missed Culprits in Failed Microvascular Decompression Surgery for Hemifacial Spasm and Clinical Outcomes of Redo Surgery. 38
31158550 2019
8
Endovascular Flow Diversion for Hemifacial Spasm Induced by a Vertebral Artery Aneurysm: First Experience. 38
30476260 2019
9
Surgical effect and electrophysiological study of patients with hemifacial spasm treated with botulinum toxin or acupuncture before microvascular decompression. 38
31351214 2019
10
Ocular surface status in patients with hemifacial spasm under long-lasting treatment with botulinum A toxin: A comparative fellow eye study. 38
31436182 2019
11
Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves: Analysis of 37 Cases and Literature Review. 38
31158546 2019
12
Surgical Outcomes of Revision Microvascular Decompression for Persistent or Recurrent Hemifacial Spasm after Surgery: Analysis of radiological and intraoperative findings. 38
31382068 2019
13
Delayed hearing loss after microvascular decompression for hemifacial spasm-an unsolved conspiracy of the cochlear apparatus. 38
31152242 2019
14
Short-term versus long-term outcomes of microvascular decompression for hemifacial spasm. 38
31392569 2019
15
Brainstem lesion causing paroxysmal ataxia, dysarthria, diplopia and hemifacial spasm (PADDHS). 38
31371274 2019
16
A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia. 38
30920665 2019
17
Outcomes and Safety of Overlapping Surgery in Patients Undergoing Microvascular Decompression for Hemifacial Spasm and Trigeminal Neuralgia. 38
31323398 2019
18
Transposition of the Culprit Artery Passing Between the Facial Nerve and Auditory Nerve in Microvascular Decompression Surgery for Hemifacial Spasm. 38
30974269 2019
19
Treatment of Venous Hemorrhage Between Vestibulocochlear Nerve and Hypertrophic Flocculus During Microvascular Decompression Procedure for Hemifacial Spasm. 38
31299771 2019
20
Wedge-technique for transposition of the vertebral artery in microvascular decompression for hemifacial spasm: technical nuances and surgical outcomes. 38
31028460 2019
21
Long-term Outcomes of Microvascular Decompression in the Treatment of Hemifacial Spasm Based on Different Offending Vessels. 38
31018226 2019
22
Loop characteristics and audio-vestibular symptoms or hemifacial spasm: is there a correlation? A multiplanar MRI study. 38
31338653 2019
23
Hemifacial Spasm Caused by Small Epidermoid Tumor, Misinterpreted as Delayed Secondary Hemifacial Spasm Caused by Vestibular Schwannoma Treated with Gamma Knife Surgery. 38
31349082 2019
24
A rare case of unilateral hemifacial spasm and facial palsy associated with an abnormal anatomical variant of the posterior basilar circulation. 38
31155905 2019
25
Intraoperative Neurophysiological Monitoring during Microvascular Decompression Surgery for Hemifacial Spasm. 38
31290293 2019
26
Endoscope-assisted retrosigmoid approach in hemifacial spasm: our experience. 38
29784621 2019
27
Evaluation of Corneal Morphology in Patients With Hemifacial Spasm. 38
30946064 2019
28
In vitro and in vivo experiments of a novel intra-arterial neurovascular decompressor for treating neurovascular compression syndromes: a brief report. 38
31044660 2019
29
Utilization of 3D imaging reconstructions and assessment of symptom-free survival after microvascular decompression of the facial nerve in hemifacial spasm. 38
31299649 2019
30
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. 38
31368052 2019
31
A Unique Case of Microvascular Triple Decompression for Combined Simultaneous Trigeminal Neuralgia, Hemifacial Spasm, and Glossopharyngeal Neuralgia Because of the Dolichoectatic Vertebrobasilar System. 38
31334555 2019
32
How I do it: 3D exoscopic endoscope-assisted microvascular decompression. 38
31144166 2019
33
Consensus of the Iberoamerican Oculoplastic Society for diagnosis and management of facial dystonia. 38
31272707 2019
34
Blink synkinesis monitoring during microvascular decompression for hemifacial spasm. 38
30946116 2019
35
Hemifacial spasm in sleep - A polysomnographic study. 38
30902436 2019
36
Retrosigmoid Craniotomy for the Removal of Left Sided Tentorial and Posterior Fossa Meningioma Combined with Microvascular Decompression for Hemifacial Spasm. 38
31143598 2019
37
Comparison of techniques of botulinum toxin injections for blepharospasm and hemifacial spasm. 38
31251420 2019
38
[Clinical study of microvascular decompression in patients with coexistent hemifacial spasm and ipsilateral trigeminal neuralgia]. 38
31207692 2019
39
Endoscopic-Assisted Microvascular Decompression of Ectatic Vertebral Artery for Hemifacial Spasm: Operative Video and Technical Nuances. 38
31143608 2019
40
Lateral Basal Approach to CPA in Supine No-Retractor Method: Microvascular Decompression for Hemifacial Spasm. 38
31143611 2019
41
Absence of Ischemic Injury after Sacrificing the Superior Petrosal Vein during Microvascular Decompression. 38
31214696 2019
42
Vascular Complications in Microvascular Decompression: A Survey of 4000 Operations. 38
31254687 2019
43
Prosthesis Used in Microvascular Decompressions: A Multicenter Survey in Japan Focusing on Adverse Events. 38
31207376 2019
44
[Botulinumtoxin in Ophthalmology]. 38
30999362 2019
45
[Study on the relationship between preoperative evaluation, operation and prognosis of microvascular decompression for the treatment of hemifacial spasm]. 38
31091581 2019
46
Validation of the Hemifacial Spasm Grading Scale: a clinical tool for hemifacial spasm. 38
31076941 2019
47
Pseudoaneurysm presenting around polytetrafluoroethylene fiber following microvascular decompression: A case report and literature review. 38
30732984 2019
48
Writing, reading, and speaking in blepharospasm. 38
30783748 2019
49
Adverse Events After Microvascular Decompression: A National Surgical Quality Improvement Program Analysis. 38
31082546 2019
50
Clinical analysis of repeat microvascular decompression for recurrent hemifacial spasm. 38
30963475 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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