MCID: SPS016
MIFTS: 31

Spasmodic Dysphonia

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spasmodic Dysphonia

MalaCards integrated aliases for Spasmodic Dysphonia:

Name: Spasmodic Dysphonia 20
Laryngeal Dystonia 20 70
Abductor Spasmodic Dysphonia 20
Adductor Spasmodic Dysphonia 20
Abductor Spastic Dysphonia 70
Adductor Spastic Dysphonia 70
Mixed Spasmodic Dysphonia 20
Laryngeal Dyskinesia 20
Spastic Dysphonia 20

Classifications:



External Ids:

UMLS 70 C0264589 C0264597 C1963946

Summaries for Spasmodic Dysphonia

GARD : 20 Spasmodic dysphonia is a disease caused by involuntary movements of one or more muscles of the voice box ( larynx ). Signs and symptoms may range from occasional difficulty saying a word or two to substantial difficulty speaking that interferes with communication. Spasmodic dysphonia causes the voice to have a tight, strained, or strangled quality. While the cause of spasmodic dysphonia is unknown, some researchers think it might be caused by problems with the basal ganglia in the brain. Some cases of spasmodic dysphonia occur along with other diseases that affect the nervous system such as movement disorders. Spasmodic dysphonia may be inherited, or it may occur after a trauma to the voice box such as an injury or a severe cold. Diagnosis of spasmodic dysphonia is based on an exam by a multidisciplinary team, including an otolaryngologist. This exam may include a videolaryngostroboscopy. Treatment may include surgery, Botox injections, and speech therapy.

MalaCards based summary : Spasmodic Dysphonia, also known as laryngeal dystonia, is related to dystonia and focal dystonia. An important gene associated with Spasmodic Dysphonia is THAP1 (THAP Domain Containing 1). The drugs Ethanol and Sodium oxybate have been mentioned in the context of this disorder. Affiliated tissues include cortex, globus pallidus and tongue, and related phenotype is nervous system.

Wikipedia : 73 Spasmodic dysphonia, also known as laryngeal dystonia, is a disorder in which the muscles that generate... more...

Related Diseases for Spasmodic Dysphonia

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 dystonia 31.0 TUBB4A TOR1A THAP1
2 focal dystonia 30.7 TUBB4A TOR1A THAP1
3 spasmodic dystonia 30.6 TUBB4A TOR1A THAP1
4 cervical dystonia 30.4 TOR1A THAP1
5 blepharospasm 30.3 TOR1A THAP1
6 lymphatic malformation 5 30.1 TOR1A THAP1
7 dystonia 1, torsion, autosomal dominant 30.0 TOR1A THAP1
8 movement disease 30.0 TOR1A THAP1
9 oromandibular dystonia 29.9 TUBB4A TOR1A THAP1
10 focal hand dystonia 29.8 TOR1A THAP1
11 hereditary lymphedema ii 29.7 TOR1A THAP1
12 multifocal dystonia 29.6 TOR1A THAP1
13 segmental dystonia 29.5 TUBB4A TOR1A THAP1
14 dystonia 25 29.5 TUBB4A TOR1A THAP1
15 dystonia 12 29.4 TUBB4A TOR1A THAP1
16 isolated dystonia 29.3 TUBB4A TOR1A THAP1
17 cerebral palsy 29.1 TUBB4A TOR1A
18 spinocerebellar ataxia 20 11.4
19 dystonia 16 11.2
20 dystonia 6, torsion 11.2
21 tremor 10.8
22 dysphagia 10.6
23 essential tremor 10.3
24 speech disorder 10.3
25 mumps 10.2
26 head injury 10.2
27 dystonia 4, torsion, autosomal dominant 10.1
28 hand skill, relative 10.1
29 hemifacial spasm, familial 10.1
30 ataxia and polyneuropathy, adult-onset 10.1
31 spinocerebellar ataxia 12 10.1
32 anxiety 10.1
33 autosomal dominant cerebellar ataxia 10.1
34 tic disorder 10.1
35 measles 10.1
36 hemifacial spasm 10.1
37 myoclonus 10.1
38 spasticity 10.1
39 stuttering 10.1
40 multiple system atrophy 1 10.0
41 xeroderma pigmentosum, complementation group a 10.0
42 xeroderma pigmentosum, variant type 10.0
43 dyt-gnal 10.0
44 amyotrophic lateral sclerosis 1 10.0
45 gastroesophageal reflux 10.0
46 multiple sclerosis 10.0
47 hemifacial atrophy, progressive 10.0
48 parkinson disease, late-onset 10.0
49 stiff-person syndrome 10.0
50 torticollis 10.0

Graphical network of the top 20 diseases related to Spasmodic Dysphonia:



Diseases related to Spasmodic Dysphonia

Symptoms & Phenotypes for Spasmodic Dysphonia

MGI Mouse Phenotypes related to Spasmodic Dysphonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.92 DAGLA THAP1 TOR1A TUBB4A

Drugs & Therapeutics for Spasmodic Dysphonia

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2, Phase 3 64-17-5 702
2
Sodium oxybate Approved Phase 2, Phase 3 502-85-2 5360545
3 Anesthetics, General Phase 2, Phase 3
4 Anesthetics, Intravenous Phase 2, Phase 3
5 Anesthetics Phase 2
6
Epinephrine Approved, Vet_approved 51-43-4 5816
7
Racepinephrine Approved 329-65-7 838
8
Lidocaine Approved, Vet_approved 137-58-6 3676
9
Acetylcholine Approved, Investigational 51-84-3 187
10 incobotulinumtoxinA
11 Dihydroxyphenylalanine
12 Anti-Arrhythmia Agents
13 Epinephryl borate
14 Sodium Channel Blockers
15 Anesthetics, Local
16 Diuretics, Potassium Sparing
17 Botulinum Toxins
18 abobotulinumtoxinA
19 Botulinum Toxins, Type A
20 Neurotransmitter Agents
21 Cholinergic Agents

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Treatment for Adductor Spasmodic Dysphonia by Type 2 Thyroplasty Using Titanium Bridges Completed NCT02528006 Phase 2, Phase 3
2 Central Mechanisms and Treatment Response of Sodium Oxybate in Spasmodic Dysphonia and Voice Tremor Recruiting NCT03292458 Phase 2, Phase 3 Sodium Oxybate
3 Voice Tremor in Spasmodic Dysphonia: Central Mechanisms and Treatment Response Completed NCT01961297 Phase 2 Sodium oxybate
4 Thalamic Deep Brain Stimulation for Spasmodic Dysphonia: A Prospective, Randomized, Double-Blinded, Sham-Controlled Trial Unknown status NCT02558634 Phase 1
5 Laryngeal Resistance in Abductor Spasmodic Dysphonia Completed NCT00015795 Phase 1
6 The Effect of Vocal Rest Versus Vocalization Following Xeomin® Injections in Spasmodic Dysphonia Unknown status NCT03129087
7 Effects of Vocal Exercise Following Botox Injection on Voice Handicap and Communicative Participation for Adductor Spasmodic Dysphonia Completed NCT03349086
8 Repetitive Transcranial Magnetic Stimulation in Spasmodic Dysphonia Completed NCT02957942
9 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia and Other Focal Dystonias Completed NCT00713414
10 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Completed NCT01373424
11 Imaging Genetics of Spasmodic Dysphonia Recruiting NCT03042975
12 Botox Drug Use Investigation (Spasmodic Dysphonia) Recruiting NCT03543150 BOTOX
13 Laryngeal Vibration as a Non-invasive Treatment for Spasmodic Dysphonia Recruiting NCT03746509
14 Neuropathological Basis of Spasmodic Dysphonia and Related Voice Disorders Active, not recruiting NCT00118586
15 Brain Networks in Dystonia Enrolling by invitation NCT03042962
16 Spasmodic Dysphonia Pain Study Not yet recruiting NCT04648891 Lidocaine
17 Feasibility and Efficacy of Adaptive Closed-loop Brain-computer Interface in Laryngeal Dystonia Not yet recruiting NCT04421365
18 Effect of Vocal Exercise After Botulinum Toxin Injection for Spasmodic Dysphonia Terminated NCT00895063
19 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Terminated NCT04156022
20 Validity and Reliability of the Spasmodic Dysphonia Diagnosis and Assessment Procedure (SD-DAP) for Quantifying Symptom Change Withdrawn NCT02061943

Search NIH Clinical Center for Spasmodic Dysphonia

Genetic Tests for Spasmodic Dysphonia

Anatomical Context for Spasmodic Dysphonia

MalaCards organs/tissues related to Spasmodic Dysphonia:

40
Cortex, Globus Pallidus, Tongue

Publications for Spasmodic Dysphonia

Articles related to Spasmodic Dysphonia:

(show top 50) (show all 828)
# Title Authors PMID Year
1
Spasmodic Dysphonia: A Review. Part 1: Pathogenic Factors. 20 61
28850801 2017
2
The prevalence and clinical features of spasmodic dysphonia: A review of epidemiological surveys conducted in Japan. 61
32861505 2021
3
Validation of the Communicative Participation Item Bank as an Outcome Measure for Spasmodic Dysphonia. 61
32710809 2021
4
Quantitative laryngeal electromyography parameters may correlate with improved outcomes following botulinum toxin injection for spasmodic dysphonia. 61
33382480 2021
5
Factors influencing long-term treatment response to botulinum toxin injection for spasmodic dysphonia. 61
33260261 2021
6
Predicting Communicative Participation in Adults Across Communication Disorders. 61
33656912 2021
7
Retraction notice to "Outcome measurement in the treatment of spasmodic dysphonia: A systematic review of the literature" [Journal of Voice 33.5 (2019) 810.e13 - 810.e39] Anna Rumbach, Patrick Aiken, Daniel Novakovic. 61
33678307 2021
8
Quality of Life After Botulinum Toxin Injection in Patients With Adductor Spasmodic Dysphonia; a Systematic Review and Meta-analysis. 61
31477348 2021
9
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort. 61
33774748 2021
10
Coagulation of posterior cricoarytenoid muscles for abduction spasmodic dysphonia. 61
33392763 2021
11
Cortical neurophysiology of primary isolated dystonia and non-dystonic adults: A meta-analysis. 61
32991762 2021
12
Hemodynamic Changes Associated With Transcervical Laryngeal Injection of Botulinum Toxin. 61
33541763 2021
13
Otolaryngeal and Oropharyngeal Conditions: Dysphonia. 61
33595263 2021
14
Laryngeal Sensory Symptoms in Spasmodic Dysphonia. 61
33485747 2021
15
Botulinum toxin injection into the intrinsic laryngeal muscles to treat spasmodic dysphonia: A multicenter, placebo-controlled, randomized, double-blinded, parallel-group comparison/open-label clinical trial. 61
33393175 2021
16
Sulcus vocalis in spasmodic dysphonia-A retrospective study. 61
33545449 2021
17
Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation. 61
33316367 2021
18
Brain Structural Changes in Focal Dystonia-What About Task Specificity? A Multimodal MRI Study. 61
32979238 2021
19
Neuroimaging in idiopathic adult-onset focal dystonia. 61
33389253 2021
20
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. 61
33150406 2020
21
Head and Neck Dystonia Following Chimeric-Antigen Receptor T-Cell Immunotherapy: A Case Report. 61
32108338 2020
22
Respiratory Laryngeal Dystonia: Characterization and Diagnosis of a Rare Neurogenic Disorder. 61
32073668 2020
23
Adductor Spasmodic Dysphonia Improves with Bilateral Thalamic Deep Brain Stimulation: Report of 3 Cases Done Asleep and Review of Literature. 61
33505767 2020
24
Laboratory Evaluation of Spasmodic Dysphonia. 61
31288958 2020
25
Unilateral versus bilateral botulinum toxin injections in adductor spasmodic dysphonia in a large cohort. 61
31837152 2020
26
Auditory Feedback Control of Vocal Pitch in Spasmodic Dysphonia. 61
33169850 2020
27
[Treatment efficacy of electronic endoscope-guided botulinum toxin injection in adductor spasmodic dysphonia patients]. 61
33254323 2020
28
Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients. 61
33222902 2020
29
Hyperactive sensorimotor cortex during voice perception in spasmodic dysphonia. 61
33057071 2020
30
Pre- and Postoperative High-Speed Videolaryngoscopy Findings in Adductor Spasmodic Dysphonia Following Transoral CO2 LASER-Guided Thyroarytenoid Myoneurectomy. 61
33023813 2020
31
ROC Analysis Cut-off Points of Hellenic Voice Handicap Index for Neurogenic Voice Disorders Patients: an Exploratory Study. 61
33012628 2020
32
Factors Associated with Failure of Botulinum Toxin Injection in Adductor Spasmodic Dysphonia. 61
32468829 2020
33
Alternating Unilateral Versus Bilateral Injections of Botulinum Toxin for the Treatment of Adductor Spasmodic Dysphonia. 61
32957836 2020
34
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset. 61
32823241 2020
35
The Influence of Linguistic Demand on Symptom Expression in Adductor Spasmodic Dysphonia. 61
31047737 2020
36
DYT-TUBB4A (DYT4 dystonia): New clinical and genetic observations. 61
32943487 2020
37
Acoustic Model of Perceived Overall Severity of Dysphonia in Adductor-Type Laryngeal Dystonia. 61
32692616 2020
38
The large-scale structural connectome of task-specific focal dystonia. 61
32311207 2020
39
Effect of Electrical Stimulation on the Treatment of Dysphonia: A Systematic Review. 61
32868145 2020
40
Impact of an Upper Respiratory Tract Infection on Botulinum Toxin Efficacy in Spasmodic Dysphonia Patients. 61
31508822 2020
41
Novel Adaptation of a Validated Tactile Aesthesiometer to Evaluate Laryngopharyngeal Sensation. 61
32735711 2020
42
Vibratory Onset of Adductor Spasmodic Dysphonia and Muscle Tension Dysphonia: A High-Speed Video Study✰. 61
30595236 2020
43
Auditory-Perceptual Evaluation of Deep Brain Stimulation on Voice and Speech in Patients With Dystonia. 61
30879706 2020
44
Altered sensory system activity and connectivity patterns in adductor spasmodic dysphonia. 61
32576918 2020
45
Demographics and coexisting tremor, cervical dystonia and vocal fold disorders in a group of patients with spasmodic dysphonia. 61
32773781 2020
46
Risperidone-Induced Acute Laryngeal Dystonia: A Case Report. 61
32506071 2020
47
Patient Experience Contributing to Outcomes of Laryngeal Botulinum Toxin Injection. 61
32553551 2020
48
Practice Patterns and Barriers in Botulinum Toxin Injection for the Treatment of Voice Disorders. 61
32467003 2020
49
The Effects of Self-Esteem, Coping, and Voice-Related Quality of Life on Communicative Participation Before and After BOTOX® Treatment for Spasmodic Dysphonia. 61
32451253 2020
50
Laryngeal Botulinum Toxin Injection: Can It Be a Cause of Obstructive Sleep Apnea as an Adverse Effect? 61
32482493 2020

Variations for Spasmodic Dysphonia

Expression for Spasmodic Dysphonia

Search GEO for disease gene expression data for Spasmodic Dysphonia.

Pathways for Spasmodic Dysphonia

GO Terms for Spasmodic Dysphonia

Cellular components related to Spasmodic Dysphonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.8 TUBB4A TOR1A DAGLA

Sources for Spasmodic Dysphonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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