MCID: SPS016
MIFTS: 35

Spasmodic Dysphonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Spasmodic Dysphonia

MalaCards integrated aliases for Spasmodic Dysphonia:

Name: Spasmodic Dysphonia 53
Laryngeal Dystonia 53 73
Abductor Spasmodic Dysphonia 53
Adductor Spasmodic Dysphonia 53
Abductor Spastic Dysphonia 73
Adductor Spastic Dysphonia 73
Mixed Spasmodic Dysphonia 53
Laryngeal Dyskinesia 53
Spastic Dysphonia 53

Classifications:



External Ids:

Summaries for Spasmodic Dysphonia

NIH Rare Diseases : 53 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 spasmodic dystonia. An important gene associated with Spasmodic Dysphonia is THAP1 (THAP Domain Containing 1), and among its related pathways/superpathways is Neuroscience. The drugs Sodium oxybate and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and tongue.

Wikipedia : 76 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 all 48)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.6 THAP1 TOR1A TUBB4A
2 spasmodic dystonia 30.6 THAP1 TOR1A
3 lymphedema, hereditary, ii 30.0 THAP1 TOR1A
4 oromandibular dystonia 30.0 THAP1 TOR1A
5 cervical dystonia 29.9 THAP1 TOR1A
6 spinocerebellar ataxia 20 11.5
7 dystonia 6, torsion 11.3
8 dystonia 4, torsion, autosomal dominant 11.1
9 dystonia 16 11.1
10 tremor 10.6
11 anxiety 10.3
12 depression 10.2
13 amyotrophic lateral sclerosis 1 10.1
14 multiple sclerosis 10.1
15 hemifacial atrophy, progressive 10.1
16 stiff-person syndrome 10.1
17 aging 10.1
18 transient global amnesia 10.1
19 autosomal dominant cerebellar ataxia 10.1
20 lateral sclerosis 10.1
21 myoclonus 10.1
22 hemifacial spasm 10.1
23 multiple system atrophy 1 10.0
24 xeroderma pigmentosum, variant type 10.0
25 brainstem auditory evoked responses 10.0
26 segmental dystonia 9.9 THAP1 TOR1A
27 early-onset generalized dystonia 9.9 THAP1 TOR1A
28 dystonia 24 9.9 THAP1 TOR1A
29 blepharospasm 9.9 THAP1 TOR1A
30 focal hand dystonia 9.9 THAP1 TOR1A
31 discrimination, two-point, reduction in 9.9
32 choreoacanthocytosis 9.9
33 friedreich ataxia 1 9.9
34 xeroderma pigmentosum, complementation group a 9.9
35 supranuclear palsy, progressive, 1 9.9
36 cerebral palsy 9.9
37 sleep apnea 9.9
38 basal ganglia calcification 9.9
39 japanese encephalitis 9.9
40 anterior cerebral artery infarction 9.9
41 encephalitis 9.9
42 neurosyphilis 9.9
43 dysphagia 9.9
44 hemidystonia 9.8 THAP1 TOR1A
45 dystonia, dopa-responsive 9.8 THAP1 TOR1A
46 dystonia 11, myoclonic 9.8 THAP1 TOR1A
47 dystonia 12 9.7 THAP1 TOR1A TUBB4A
48 focal dystonia 9.7 THAP1 TOR1A

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



Diseases related to Spasmodic Dysphonia

Symptoms & Phenotypes for Spasmodic Dysphonia

Drugs & Therapeutics for Spasmodic Dysphonia

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium oxybate Approved Phase 2, Phase 3 502-85-2 5360545
2
Ethanol Approved Phase 2, Phase 3 64-17-5 702
3 Anesthetics, Intravenous Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3,Phase 1
5 Anesthetics Phase 2, Phase 3
6 Anesthetics, General Phase 2, Phase 3
7 Adjuvants, Anesthesia Phase 2, Phase 3
8 Anti-Infective Agents, Local Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3
10
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
11
Lorazepam Approved Phase 1 846-49-1 3958
12
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
13 Botulinum Toxins Phase 1,Not Applicable
14 GABA Modulators Phase 1
15 Tranquilizing Agents Phase 1
16 Autonomic Agents Phase 1
17 Antitussive Agents Phase 1
18 Antiemetics Phase 1
19 Gastrointestinal Agents Phase 1
20 Peripheral Nervous System Agents Phase 1
21 GABA Agents Phase 1
22 Respiratory System Agents Phase 1
23 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
24 Hypnotics and Sedatives Phase 1
25 Anticonvulsants Phase 1
26 Excitatory Amino Acid Antagonists Phase 1
27 Anti-Anxiety Agents Phase 1
28 Neurotransmitter Agents Phase 1,Not Applicable
29 Excitatory Amino Acids Phase 1
30 Psychotropic Drugs Phase 1
31
Lidocaine Approved, Vet_approved 137-58-6 3676
32
Acetylcholine Approved Not Applicable 51-84-3 187
33 onabotulinumtoxinA Not Applicable
34 abobotulinumtoxinA Not Applicable
35 Botulinum Toxins, Type A Not Applicable
36 Dihydroxyphenylalanine
37 Acetylcholine Release Inhibitors Not Applicable
38 Cholinergic Agents Not Applicable
39 Neuromuscular Agents
40 incobotulinumtoxinA Not Applicable

Interventional clinical trials:

(show all 23)
# 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 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- DEBUSSY Trial Unknown status NCT02558634 Phase 1
5 Study of Air Stream in Voice Production Completed NCT00015795 Phase 1
6 Dextromethorphan to Treat Patients With Voice Spasms Completed NCT00055549 Phase 1 Dextromethorphan;Lorazepam
7 Effects of Vocal Exercises for Spasmodic Dysphonia Completed NCT03349086 Not Applicable
8 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia Completed NCT00713414
9 Characteristics of Idiopathic Familial Voice Disorders Completed NCT00001552
10 Sensory Function in Idiopathic Voice Disorders Completed NCT00001922
11 Brain Mapping of Voice Control Completed NCT00066911
12 Imaging Genetics of Spasmodic Dysphonia Recruiting NCT03042975
13 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
14 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208 Not Applicable
15 rTMS in Spasmodic Dysphonia Active, not recruiting NCT02957942 Not Applicable
16 BOTOX® Drug Use Investigation (Spasmodic Dysphonia) Active, not recruiting NCT03543150 BOTOX
17 Neuropathology of Spasmodic Dysphonia Active, not recruiting NCT00118586
18 The Effect of Vocal Rest Versus Vocalization Following Xeomin® Injections in Spasmodic Dysphonia Enrolling by invitation NCT03129087 Not Applicable
19 Brain Networks in Dystonia Enrolling by invitation NCT03042962
20 Laryngeal Vibration for Spasmodic Dysphonia Not yet recruiting NCT03746509 Not Applicable
21 Effect of Vocal Exercise After Botulinum Toxin Injection for Spasmodic Dysphonia Terminated NCT00895063 Not Applicable
22 Central Mechanisms in Speech Motor Control Studied With H215O PET Terminated NCT00001308
23 Examining the Spasmodic Dysphonia Diagnosis and Assessment Procedure (SD-DAP) for Measuring 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:

41
Brain, Cortex, Tongue, Globus Pallidus

Publications for Spasmodic Dysphonia

Articles related to Spasmodic Dysphonia:

(show top 50) (show all 444)
# Title Authors Year
1
Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia. ( 29913530 )
2018
2
Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia. ( 29935029 )
2018
3
Outcome Measurement in the Treatment of Spasmodic Dysphonia: A Systematic Review of the Literature. ( 29655932 )
2018
4
Spasmodic Dysphonia. ( 29239880 )
2018
5
Outcomes of Onabotulinum Toxin A Treatment for Adductor Spasmodic Dysphonia and Laryngeal Tremor. ( 29423509 )
2018
6
Botulinum toxin-B injection into the lacrimal gland and posterior cricoarytenoid muscle for the treatment of epiphora and abductor spasmodic dysphonia secondary to Parkinson's disease. ( 29939826 )
2018
7
Spasmodic Dysphonia in Multiple Sclerosis Treatment With Botulin Toxin A: A Pilot Study. ( 29650331 )
2018
8
Connectivity profiles of the insular network for speech control in healthy individuals and patients with spasmodic dysphonia. ( 29520481 )
2018
9
Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome. ( 29716720 )
2018
10
Acoustic and Perceptual Analyses of Adductor Spasmodic Dysphonia in Mandarin-speaking Chinese. ( 29449062 )
2018
11
Classifying and Diagnosing Laryngeal Dystonia-Are We Artists or Are We Scientists? ( 29931264 )
2018
12
Consensus-Based Attributes for Identifying Patients With Spasmodic Dysphonia and Other Voice Disorders. ( 29931028 )
2018
13
Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity. ( 29117296 )
2018
14
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. ( 29219190 )
2018
15
Central voice production and pathophysiology of spasmodic dysphonia. ( 28543038 )
2018
16
Anxiety and depression in spasmodic dysphonia patients. ( 30101219 )
2018
17
Bilateral Posterior Cricoarytenoid Myoneurectomy for Abductor Spasmodic Dysphonia. ( 30174222 )
2018
18
Validation of the OMNI vocal effort scale in the treatment of adductor spasmodic dysphonia. ( 30315575 )
2018
19
OnabotulinumtoxinA for adductor spasmodic dysphonia (ADSD): Functional results and the role of dosage. ( 30315835 )
2018
20
Defining differences in patient characteristics between spasmodic dysphonia and laryngeal tremor. ( 30426500 )
2018
21
Communication-related affective, behavioral, and cognitive reactions in speakers with spasmodic dysphonia. ( 29299525 )
2017
22
Phenotype- and genotype-specific structural alterations in spasmodic dysphonia. ( 28186656 )
2017
23
Reliability and Validity of Speech Evaluation in Adductor Spasmodic Dysphonia: Common Mistake and Statistical Issues. ( 29103608 )
2017
24
The effect of unilateral thalamic deep brain stimulation on the vocal dysfunction in a patient with spasmodic dysphonia: interrogating cerebellar and pallidal neural circuits. ( 28304188 )
2017
25
Retropharyngeal hematoma following botulinum toxin injection for abductor spasmodic dysphonia. ( 29236283 )
2017
26
Spasmodic Dysphonia: A Review. Part 1: Pathogenic Factors. ( 28850801 )
2017
27
Reliability and Validity of Speech Evaluation in Adductor Spasmodic Dysphonia. ( 28802787 )
2017
28
The Effect of Information and Severity on Perception of Speakers With Adductor Spasmodic Dysphonia. ( 28249075 )
2017
29
Reliability of High-speed Videoendoscopic Ratings of Essential Voice Tremor and Adductor Spasmodic Dysphonia. ( 29246397 )
2017
30
Socioeconomic Variables of Patients with Spasmodic Dysphonia: A Preliminary Study. ( 28927659 )
2017
31
Long-term Dose Stability of OnabotulinumtoxinA Injection for Adductor Spasmodic Dysphonia: A 19-Year Single Institution Experience. ( 29238711 )
2017
32
Reply to: "Reliability and Validity of Speech Evaluation in Adductor Spasmodic Dysphonia; Common Mistake and Statistical Issues" by Saori Yanagida. ( 29122419 )
2017
33
Perioperative complications and safety of type II thyroplasty (TPII) for adductor spasmodic dysphonia. ( 28229294 )
2017
34
Bilateral Vocal Fold Medialization: A Treatment for Abductor Spasmodic Dysphonia. ( 29132808 )
2017
35
Long-term Evaluation of Type 2 Thyroplasty with Titanium Bridges for Adductor Spasmodic Dysphonia. ( 28463639 )
2017
36
Spasmodic Dysphonia: A Review. Part 2: Characterization of Pathophysiology. ( 28850796 )
2017
37
Pharyngeal Dystonia Mimicking Spasmodic Dysphonia. ( 28651822 )
2017
38
Acute Laryngeal Dystonia Associated With Asenapine Use: A Case Report. ( 29040152 )
2017
39
Adductor focal laryngeal Dystonia: correlation between clinicians' ratings and subjects' perception of Dysphonia. ( 29255615 )
2017
40
Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature. ( 28229063 )
2017
41
Ten-year results of pallidal stimulation for cricopharyngeal dystonia with spasmodic dysphonia. ( 27927934 )
2017
42
Liquid-type Botulinum Toxin Type A in Adductor Spasmodic Dysphonia: A Prospective Pilot Study. ( 27520509 )
2017
43
Employer Reactions to Adductor Spasmodic Dysphonia: Exploring the Influence of Symptom Severity and Disclosure of Diagnosis During a Simulated Telephone Interview. ( 28492935 )
2017
44
Long-Term Follow-Up of Patients with Spasmodic Dysphonia and Improved Voice despite Discontinuation of Treatment. ( 27915345 )
2016
45
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. ( 27188707 )
2016
46
Botulinum Toxin Dosing Trends in Spasmodic Dysphonia Over a 20-year Period. ( 27005439 )
2016
47
Vocal Parameters and Self-Perception in Individuals With Adductor Spasmodic Dysphonia. ( 27866691 )
2016
48
Onabotulinum toxin A dosage trends over time for adductor spasmodic dysphonia: A 15-year experience. ( 26308153 )
2016
49
Cortical Silent Period Reveals Differences Between Adductor Spasmodic Dysphonia and Muscle Tension Dysphonia. ( 26089309 )
2016
50
Botulinum Toxin in Secondarily Nonresponsive Patients with Spasmodic Dysphonia. ( 27143711 )
2016

Variations for Spasmodic Dysphonia

Expression for Spasmodic Dysphonia

Search GEO for disease gene expression data for Spasmodic Dysphonia.

Pathways for Spasmodic Dysphonia

Pathways related to Spasmodic Dysphonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 DAGLA TOR1A

GO Terms for Spasmodic Dysphonia

Sources for Spasmodic Dysphonia

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
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