FTSD
MCID: FCL022
MIFTS: 48

Focal Dystonia (FTSD)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Focal Dystonia

MalaCards integrated aliases for Focal Dystonia:

Name: Focal Dystonia 12 76 53 29 55 15 73
Ftsd 53 25
Dystonia, Focal, Task-Specific 73
Focal Task Specific Dystonia 53
Task-Specific Focal Dystonia 25
Focal Task-Specific Dystonia 25
Task-Specific Dystonia 25
Occupational Dystonia 25
Focal Hand Dystonia 25
Occupational Cramp 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050836

Summaries for Focal Dystonia

NIH Rare Diseases : 53 Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Additionally, FTSD has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. While the abnormal movements associated with focal dystonia are usually painless, they can cause high levels of anxiety. The causes of focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. It is possible that the different forms of FTSD have different underlying causes. Researchers have found that at least some cases are related to malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Most cases of focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history which seems to follow an autosomal dominant pattern of inheritance.

MalaCards based summary : Focal Dystonia, also known as ftsd, is related to dystonia 24 and oromandibular dystonia, and has symptoms including dystonia, dystonia, paroxysmal and dystonia, limb. An important gene associated with Focal Dystonia is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and DARPP-32 Phosphorylation. The drugs Acetylcholine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum, and related phenotype is behavior/neurological.

Disease Ontology : 12 A dystonia that is localized to a specific part of the body.

Genetics Home Reference : 25 Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. The term "focal" refers to a type of dystonia that affects a single part of the body, such as the hand or jaw.

Wikipedia : 76 Focal dystonia is a neurological condition, a type of dystonia, that affects a muscle or group of... more...

Related Diseases for Focal Dystonia

Diseases related to Focal Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 dystonia 24 32.0 ANO3 THAP1 TOR1A
2 oromandibular dystonia 31.7 CAMP THAP1 TOR1A
3 dystonia 3, torsion, x-linked 31.6 TAF1 THAP1
4 blepharospasm 31.5 CAMP DRD5 GNAL THAP1 TIMM8A TOR1A
5 focal hand dystonia 31.3 CAMP DRD5 THAP1 TOR1A
6 spasmodic dystonia 31.3 CAMP GNAL THAP1 TOR1A
7 cervical dystonia 31.2 CAMP CDIP1 CIZ1 DRD5 GNAL THAP1
8 dystonia 1, torsion, autosomal dominant 31.0 CAMP SGCE TAF1 TOR1A
9 torticollis 30.2 CIZ1 DRD2 TOR1A
10 dystonia 30.0 ANO3 CIZ1 DRD2 DRD5 GNAL SGCE
11 spasmodic dysphonia 29.9 THAP1 TOR1A
12 hemidystonia 29.1 CAMP SGCE TAF1 THAP1 TOR1A
13 dystonia 25 11.8
14 x-linked dystonia-parkinsonism/lubag 11.3
15 partington x-linked mental retardation syndrome 11.2
16 blepharospasm, benign essential 11.2
17 dystonia 7, torsion 11.0
18 spinocerebellar ataxia 14 11.0
19 dystonia, focal, task-specific 11.0
20 spastic paraplegia 35, autosomal recessive 11.0
21 dystonia 23 11.0
22 oculogyric crisis 11.0
23 cranio-facial dystonia 11.0
24 amyotrophic lateral sclerosis 1 10.2
25 lateral sclerosis 10.2
26 hemifacial spasm 10.2
27 discrimination, two-point, reduction in 10.1
28 tic disorder 10.0 DRD2 DRD5
29 intermittent claudication 10.0
30 early-onset generalized dystonia 10.0 ANO3 THAP1 TOR1A
31 tremor 10.0
32 multifocal dystonia 10.0 CAMP TOR1A
33 bruxism 10.0 DRD2 DRD5
34 movement disease 9.9 DRD2 SGCE TOR1A
35 siderosis 9.9
36 autosomal dominant cerebellar ataxia 9.9
37 spasticity 9.9
38 superficial siderosis 9.9
39 tendinitis 9.9
40 thoracic outlet syndrome 9.9
41 nerve compression syndrome 9.9
42 myoclonus 9.9
43 whiplash 9.9
44 conduct disorder 9.9 DRD2 DRD5
45 gilles de la tourette syndrome 9.9 DRD2 DRD5 SGCE
46 segmental dystonia 9.8 CAMP CIZ1 THAP1 TOR1A
47 lymphedema, hereditary, ii 9.8 CAMP DRD5 THAP1 TOR1A
48 creutzfeldt-jakob disease 9.8
49 neurofibromatosis, type i 9.8
50 obsessive-compulsive disorder 9.8

Graphical network of the top 20 diseases related to Focal Dystonia:



Diseases related to Focal Dystonia

Symptoms & Phenotypes for Focal Dystonia

UMLS symptoms related to Focal Dystonia:


dystonia, dystonia, paroxysmal, dystonia, limb

MGI Mouse Phenotypes related to Focal Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 CIZ1 DRD2 DRD5 GNAL SGCE TBP

Drugs & Therapeutics for Focal Dystonia

Drugs for Focal Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# 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 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 abobotulinumtoxinA Phase 4,Phase 3,Not Applicable
5 onabotulinumtoxinA Phase 4,Phase 3,Not Applicable
6 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 rimabotulinumtoxinB Phase 4
8 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Botulinum Toxins, Type A Phase 4,Phase 3,Not Applicable
11 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
12
Amlodipine Approved Phase 2 88150-42-9 2162
13
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
14 Vasodilator Agents Phase 2
15 Calcium, Dietary Phase 2
16 Antihypertensive Agents Phase 2
17 calcium channel blockers Phase 2
18 Diuretics, Potassium Sparing Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Sodium Channel Blockers Phase 2
21 incobotulinumtoxinA Phase 2,Not Applicable
22
Dopamine Approved 51-61-6, 62-31-7 681
23
Flumazenil Approved 78755-81-4 3373
24 Protective Agents
25 Cardiotonic Agents
26 Sympathomimetics
27 Autonomic Agents
28 Dopamine Agents
29 Insulin, Globin Zinc Not Applicable
30 insulin Not Applicable

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Recruiting NCT02326818 Phase 3
3 Amlodipine Plus Botulinum Toxin for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
4 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
5 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2
6 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
7 rTMS and Retraining in Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
8 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
9 Transcranial Electrical Polarization to Treat Focal Hand Dystonia Completed NCT00106782 Phase 2
10 Deep Brain Stimulation Surgery for Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
11 Safety and Tolerability of Perampanel in Cervical Dystonia Recruiting NCT02131467 Phase 1, Phase 2 Perampanel
12 Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Recruiting NCT02107261 Phase 2 incobotulinumtoxin A
13 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
14 Motor and Premotor Cortex Stimulation for Treatment of Secondary Focal Dystonia With Striato Palliadal Lesion : Evaluation of Safety and Effectiveness Completed NCT00505323 Phase 1
15 Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm Unknown status NCT01759745
16 Somatosensory Processing in Focal Hand Dystonia Unknown status NCT00579033 Not Applicable
17 Survey of Sensory and Motor Tricks in Focal Dystonia Completed NCT00054652
18 Association Between Focal Dystonia and Complex Regional Pain Syndrome Completed NCT00595439
19 Role of Dopamine Receptors in Primary Focal Dystonias Completed NCT01373840
20 Sensory Training to Treat Focal Dystonia Completed NCT00006336
21 Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients Completed NCT03664375 Not Applicable
22 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia Completed NCT00713414
23 EEG and EMG Studies of Hand Dystonia Completed NCT00025701
24 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
25 Brain Changes in Patients With Focal Hand Dystonia Completed NCT00306865
26 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
27 Brain Function in Focal Dystonia Completed NCT00102999
28 Movement-Related Brain Networks Involved in Hand Dystonia Completed NCT00137384
29 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
30 Neurophysiologic Study of Patient With Essential Tremor and Dystonic Tremor Completed NCT03041714
31 Transcranial Magnetic Stimulation (TMS) Studies of Dystonia Completed NCT00017875
32 Surround Inhibition in Patients With Dystonia Completed NCT00029601
33 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Completed NCT02370875 Not Applicable
34 A Mechanical Device for Blepharospasm Completed NCT03269123 Not Applicable
35 Movement Disorder Survey in East China Completed NCT01168388
36 Computer Modelling of the Cervical Spine Movements in Cervical Dystonia Completed NCT02894359
37 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
38 Plasticity in Cervical Dystonia Completed NCT00323765
39 Cortical Excitability in Obsessive-Compulsive and Related Disorders Completed NCT00029068
40 Long-Term Motor Learning in Focal Hand Dystonia Completed NCT00325091
41 MDs on Botox Utility (MOBILITY) Completed NCT00535938
42 Loss of Depotentiation in Focal Dystonia Recruiting NCT03206112 Early Phase 1
43 Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia Recruiting NCT02334683 Not Applicable
44 Characterization of Manual Dexterity by Finger Force Manipuladum (FFM) in Patients With Writer's Cramp and in Control Subjects Recruiting NCT03797638 Not Applicable
45 Finger Individuation Training With a Training Device Versus Conventional Rehabilitation for Writer's Cramp Recruiting NCT02882334 Not Applicable
46 rTMS and Botulinum Toxin in Primary Cervical Dystonia Recruiting NCT02542839 Not Applicable
47 Sensorimotor Mapping in Patients With Writer's Cramp Recruiting NCT03085745 Not Applicable
48 Imaging Genetics of Spasmodic Dysphonia Recruiting NCT03042975
49 Cholinergic Receptor Imaging in Dystonia Recruiting NCT02689466
50 Non-Motor Features of Cervical Dystonia (CD) Recruiting NCT03471923

Search NIH Clinical Center for Focal Dystonia

Genetic Tests for Focal Dystonia

Genetic tests related to Focal Dystonia:

# Genetic test Affiliating Genes
1 Focal Dystonia 29

Anatomical Context for Focal Dystonia

MalaCards organs/tissues related to Focal Dystonia:

41
Brain, Cortex, Cerebellum, Skin

Publications for Focal Dystonia

Articles related to Focal Dystonia:

(show top 50) (show all 243)
# Title Authors Year
1
Dopaminergic involvement in a drummer with focal dystonia: A case study. ( 29408773 )
2018
2
Stereotactic Selective Thalamotomy for Focal Dystonia with Aid of Depth Microrecording. ( 29909211 )
2018
3
Effect of botulinum toxin A & task-specific training on upper limb function in post-stroke focal dystonia. ( 29808039 )
2018
4
Corrigendum to "Dopaminergic involvement in a drummer with focal dystonia: A case study" [Clin. Neurol. Neurosurg. (2018) 166 (March) 54-55]. ( 29605502 )
2018
5
Transfer Dysphagia Due to Focal Dystonia. ( 30304925 )
2018
6
An unusual presentation of superficial siderosis with focal dystonia and 'Giant panda morphology' on MRI: atypical clinicoradiological amalgam. ( 30465100 )
2018
7
Isolated focal dystonia phenotypes are associated with distinct patterns of altered microstructure. ( 30013924 )
2018
8
SCA2 presenting as a focal dystonia. ( 30123518 )
2018
9
Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel. ( 30264427 )
2018
10
Treatment of focal dystonia involving multiple muscles with a single injection of botulinum toxin A to 1 muscle: A case report. ( 30334967 )
2018
11
Towards flexible and tailored botulinum neurotoxin dosing regimens for focal dystonia and spasticity - Insights from recent studies. ( 29407165 )
2018
12
Phosphorylation of Threonine 175 Tau in the Induction of Tau Pathology in Amyotrophic Lateral Sclerosis-Frontotemporal Spectrum Disorder (ALS-FTSD). A Review. ( 29731706 )
2018
13
Acute Focal Dystonia After a Single Dose of Oral Cetirizine in a 9-Year-Old Boy. ( 28169979 )
2017
14
Botulinum toxin for treatment of the focal dystonia. ( 28652522 )
2017
15
The direct basal ganglia pathway is hyperfunctional in focal dystonia. ( 29087445 )
2017
16
Does the Somatosensory Temporal Discrimination Threshold Change over Time in Focal Dystonia? ( 29062576 )
2017
17
Imbalance of the direct and indirect pathways in focal dystonia: a balanced view. ( 29194506 )
2017
18
Psychiatric associations of adult-onset focal dystonia phenotypes. ( 28438790 )
2017
19
Musician's Focal Dystonia. ( 28510682 )
2017
20
Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia. ( 28674168 )
2017
21
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease. ( 28401296 )
2017
22
Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. ( 28054827 )
2017
23
Rapidly Cycling Auras and Episodic Focal Dystonia in Anti-LGI1 Autoimmune Encephalitis. ( 27399958 )
2016
24
Is failed predictive control a risk factor for focal dystonia? ( 27787939 )
2016
25
Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. ( 27721106 )
2016
26
Adult onset primary focal dystonia of the foot: an orthopaedic intervention. ( 27030449 )
2016
27
Poster 247 Treatment of Post-Traumatic Chronic Abdominal Pain due to Focal Dystonia with Onabotulinumtoxin A: Two Case Reports. ( 27673004 )
2016
28
Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients. ( 27225998 )
2016
29
Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models. ( 27168150 )
2016
30
The curse of motor expertise: Use-dependent focal dystonia as a manifestation of maladaptive changes in body representation. ( 26689332 )
2016
31
Neurofibromatosis type 1: focal dystonia associated with a malignant peripheral nerve sheath tumour-a video-illustrated case. ( 27797864 )
2016
32
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. ( 27647704 )
2016
33
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. ( 26803725 )
2016
34
Sonographic Alteration of Basal Ganglia in Different Forms of Primary Focal Dystonia: A Cross-sectional Study. ( 27064039 )
2016
35
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
36
The impact of stress on motor performance in skilled musicians suffering from focal dystonia: Physiological and psychological characteristics. ( 27033741 )
2016
37
A Patient With Focal Dystonia That Occurred Secondary to a Peripheral Neurogenic Tumor: A Case Report. ( 26361606 )
2015
38
High prevalence of primary focal dystonia in the Faroe Islands. ( 26041438 )
2015
39
Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances. ( 26360238 )
2015
40
Hyoid muscle dystonia: A distinct focal dystonia syndrome. ( 26324211 )
2015
41
Sensory-motor integration in focal dystonia. ( 26164472 )
2015
42
Life satisfaction of musicians with focal dystonia. ( 25964508 )
2015
43
Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks. ( 26679193 )
2015
44
The spread of primary late-onset focal dystonia in a long-term follow up study. ( 25764999 )
2015
45
Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies. ( 25538612 )
2014
46
Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE). ( 24999327 )
2014
47
Focal dystonia in musicians: Phenomenology and musical triggering factors. ( 25102827 )
2014
48
Psychiatric disorders in idiopathic-isolated focal dystonia. ( 24449065 )
2014
49
Connectivity patterns of pallidal DBS electrodes in focal dystonia: a diffusion tensor tractography study. ( 24045076 )
2014
50
Sensory tricks in focal dystonia and hemifacial spasm. ( 23216586 )
2013

Variations for Focal Dystonia

Expression for Focal Dystonia

Search GEO for disease gene expression data for Focal Dystonia.

Pathways for Focal Dystonia

Pathways related to Focal Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 DRD2 DRD5 GNAL
2 9.97 DRD2 DRD5

GO Terms for Focal Dystonia

Cellular components related to Focal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor TFIID complex GO:0005669 8.96 TAF1 TBP
2 non-motile cilium GO:0097730 8.62 DRD2 DRD5

Biological processes related to Focal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to cocaine GO:0042220 9.48 DRD2 DRD5
2 DNA-templated transcription, initiation GO:0006352 9.46 TAF1 TBP
3 response to amphetamine GO:0001975 9.43 DRD2 DRD5
4 associative learning GO:0008306 9.4 DRD2 DRD5
5 negative regulation of blood pressure GO:0045776 9.37 DRD2 DRD5
6 RNA polymerase II preinitiation complex assembly GO:0051123 9.32 TAF1 TBP
7 synaptic transmission, dopaminergic GO:0001963 9.26 DRD2 DRD5
8 chaperone-mediated protein transport GO:0072321 9.16 TIMM8A TOR1A
9 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 8.96 DRD2 DRD5
10 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.62 DRD2 TOR1A

Molecular functions related to Focal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.16 TAF1 TBP
2 dopamine binding GO:0035240 8.96 DRD2 DRD5
3 dopamine neurotransmitter receptor activity GO:0004952 8.62 DRD2 DRD5

Sources for Focal Dystonia

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
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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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