Focal Dystonia (FTSD)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Focal Dystonia

MalaCards integrated aliases for Focal Dystonia:

Name: Focal Dystonia 12 74 52 54 15 71
Dystonia, Focal, Task-Specific 71
Focal Task Specific Dystonia 52
Ftsd 52


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Disease Ontology 12 DOID:0050836
UMLS 71 C0743332 C1969807

Summaries for Focal Dystonia

NIH Rare Diseases : 52 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 dystonia, focal, task-specific, is related to dystonia 25 and dystonia 23, 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 Methylphenidate Pathway, Pharmacodynamics and DARPP-32 Phosphorylation. The drugs incobotulinumtoxinA and rimabotulinumtoxinB 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.

Wikipedia : 74 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 192)
# Related Disease Score Top Affiliating Genes
1 dystonia 25 33.4 TOR1A THAP1 GNAL CIZ1 ANO3
2 dystonia 23 33.0 CIZ1 ANO3
3 dystonia 24 32.8 THAP1 GNAL ANO3
4 oculogyric crisis 32.3 GCH1 DRD5 DRD2
5 focal hand dystonia 32.0 TOR1A THAP1 SGCE GNAL GCH1 DRD2
6 dystonia 1, torsion, autosomal dominant 32.0 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
7 oromandibular dystonia 31.9 TOR1A THAP1 SGCE OMD GNAL GCH1
8 spasmodic dystonia 31.7 TOR1A THAP1 SGCE OMD GNAL GCH1
9 dystonia 3, torsion, x-linked 31.7 TOR1A THAP1 TBP TAF1L TAF1 SGCE
10 cranio-facial dystonia 31.7 TOR1A THAP1 SGCE GCH1 CDIP1
11 torticollis 31.5 TOR1A DRD2 CIZ1
12 spasmodic dysphonia 31.5 TOR1A THAP1
13 cervical dystonia 30.8 TOR1A THAP1 SGCE OMD HLA-DRB1 GNAL
14 dystonia 6, torsion 30.5 THAP1 CIZ1
15 obsessive-compulsive disorder 30.3 TOR1A SGCE GCH1 DRD2
16 blepharospasm 30.3 TOR1A TIMM8A THAP1 TAF1 SGCE OMD
17 bruxism 30.2 OMD DRD5 DRD2
18 basal ganglia disease 30.2 TOR1A THAP1 GCH1
19 isolated dystonia 30.0 TOR1A THAP1 GNAL GCH1 ANO3
20 choreatic disease 29.9 TBP SGCE GCH1 DRD5 DRD2
21 restless legs syndrome 29.9 TBP PRKN DRD5 DRD2
22 dystonia 29.3 TOR1B TOR1A TIMM8A THAP1 TBP TAF1
23 segmental dystonia 29.3 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
24 movement disease 29.0 TOR1A THAP1 TAF1 SGCE PRKN OMD
25 dystonia 12 28.5 TOR1B TOR1A THAP1 TAF1L TAF1 SGCE
26 obsolete: autosomal dominant focal dystonia, dyt7 type 12.4
27 dystonia, focal, task-specific 12.2
28 blepharospasm, benign essential 11.7
29 dystonia 7, torsion 11.5
30 mohr-tranebjaerg syndrome 11.5
31 partington x-linked mental retardation syndrome 11.5
32 dyt-gnal 11.3
33 spinocerebellar ataxia 14 11.2
34 spastic paraplegia 35, autosomal recessive 11.2
35 anismus 11.2
36 idiopathic corneal edema 10.5 DRD5 DRD2
37 sgce myoclonus-dystonia 10.5 SGCE DRD2
38 hemifacial spasm, familial 10.5
39 hemifacial spasm 10.5
40 periodic limb movement disorder 10.4 DRD5 DRD2
41 drug psychosis 10.4 DRD5 DRD2
42 drug-induced mental disorder 10.4 DRD5 DRD2
43 torsion dystonia 4 10.4 GNAL CIZ1 ANO3
44 dystonia 27 10.4 GNAL CIZ1 ANO3
45 substance-induced psychosis 10.4 DRD5 DRD2
46 chronic tic disorder 10.4 DRD5 DRD2
47 benign familial infantile epilepsy 10.4 GNAL CIZ1 ANO3
48 tremor 10.3
49 mixed cerebral palsy 10.3 DRD5 DRD2
50 amyotrophic lateral sclerosis 1 10.3

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 CDIP1 CIZ1 DRD2 DRD5 GNAL OMD

Drugs & Therapeutics for Focal Dystonia

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 incobotulinumtoxinA Phase 4
2 rimabotulinumtoxinB Phase 4
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
4 Neurotransmitter Agents Phase 3
5 Acetylcholine Release Inhibitors Phase 3
6 Botulinum Toxins Phase 3
7 Neuromuscular Agents Phase 3
8 Cholinergic Agents Phase 3
9 abobotulinumtoxinA Phase 3
10 Botulinum Toxins, Type A Phase 3
11 Pharmaceutical Solutions Phase 3
Amlodipine Approved Phase 2 88150-42-9 2162
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
15 Antihypertensive Agents Phase 2
16 Hormones Phase 2
17 Calcium, Dietary Phase 2
18 calcium channel blockers Phase 2
19 Vasodilator Agents Phase 2
20 Anti-Arrhythmia Agents Phase 2
21 Sodium Channel Blockers Phase 2
22 Diuretics, Potassium Sparing Phase 2
Dopamine Approved 51-61-6, 62-31-7 681
Flumazenil Approved 78755-81-4 3373
Baclofen Approved 1134-47-0 2284
26 Mung bean Approved
27 Sympathomimetics
28 Dopamine Agents
29 Autonomic Agents
30 Protective Agents
31 insulin
32 Insulin, Globin Zinc

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
3 Use of Botulinum Toxin (BTX) for the Treatment of Peripheral Painful Traumatic Trigeminal Neuropathy (PPTTN) Recruiting NCT03555916 Phase 3 BOTOX®, Allergan;Placebo
4 Trial of Amlodipine Combined With Botulinum Toxin Injections for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
5 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
6 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
7 Effectiveness of rTMS and Retraining in the Treatment of Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
8 Motor Training as Treatment of Focal Hand Dystonia Completed NCT00021853 Phase 2
9 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2
10 Placebo Controlled Study of the Therapeutic Effect of the Transcranial Electrical Polarization in Patients With Focal Hand Dystonia Completed NCT00106782 Phase 2
11 A Placebo-Controlled, Double-Blind, Randomized, Cross Over Pilot Study Of The Efficacy And Tolerability Of Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Recruiting NCT02107261 Phase 2 incobotulinumtoxin A
12 An Open-label Phase 2a Study to Evaluate the Safety and Tolerability of Perampanel (E2007) in Subjects With Cervical Dystonia (SAFE-Per CD) Recruiting NCT02131467 Phase 1, Phase 2 Perampanel
13 Placebo Controlled Double Blind Study of Acetyl Hexapeptide-8 in Treatment of Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
14 Multiple Sessions of Low-frequency Repetitive Transcranial Magnetic Stimulation in Focal Hand Dystonia: Clinical and Physiological Effects Completed NCT01884064 Phase 1
15 Motor and Premotor Cortex Stimulation for Treatment of Secondary Focal Dystonia With Striato Pallidal Lesion : Evaluation of Safety and Effectiveness Completed NCT00505323 Phase 1
16 The Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm- a Pilot Study. Unknown status NCT01759745
17 Tactile Operant Conditioning To Alleviate Focal Hand Dystonia Symptoms Unknown status NCT00579033
18 Survey of Sensory and Motor Tricks in Focal Dystonia Completed NCT00054652
19 Movement Disorder Survey in East China Completed NCT01168388
20 The Association Between Focal Dystonia (FD) and Complex Regional Pain Syndrome (CRPS) Completed NCT00595439
21 Repetitive Transcranial Magnetic Stimulation in Spasmodic Dysphonia Completed NCT02957942
22 Characterization of Manual Dexterity by Finger Force Manipuladum (FFM) in Patients With Writer's Cramp and in Control Subjects Completed NCT03797638
23 Neurophysiological Studies of Focal and Generalized Forms of Dystonia Using Transcranial Magnetic Stimulation (TMS) Completed NCT00017875
24 EEG Study of Movement-Related Center-Surround Organization in Hand Dystonia Completed NCT00025701
25 Sensory Training for Treatment of Focal Dystonia Completed NCT00006336
26 Role of Dopamine Receptors in Primary Focal Dystonias Completed NCT01373840
27 Impact Of Physiotherapy And Botulinum Toxin Type-A In Improving Functional Outcomes In Upper Limb Focal Dystonia Among Post Stroke Patients Completed NCT03664375
28 The Effect of Peripheral Heterotopic Stimulation on Cortical Excitability in Dystonia Completed NCT00050024
29 The Study of Surround Inhibition in Patients With Dystonia Completed NCT00029601
30 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
31 Functional Connectivity of the Basal Ganglia in Primary Focal Dystonia Completed NCT01761903
32 Computer Modelling of the Cervical Spine Movements in Cervical Dystonia Completed NCT02894359
33 Combined Effects of rTMS and Botulinum Toxin in Benign Essential Blepharospasm: A Novel Approach Completed NCT02370875
34 The Physiology of Tricks Completed NCT00072956
35 Evaluation of Density and Pattern of Distribution of GABA A Receptors in the Brain of Patients With Focal Hand Dystonia Studied With PET Using [11C] Flumazenil Completed NCT00306865
36 Comparative Study Between the Functional Outcomes of Neuromodulation and Neuroablation Techniques for Treatment of Secondary Dystonia Completed NCT03347240
37 MINGO Supplemental Trial in X-linked Dystonia Parkinsonism Patients: A Prospective Randomized, Open-labeled, Parallel Group Trial Completed NCT03019458
38 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
39 Studies of Cortical Excitability in Obsessive-Compulsive Disorder, Related Disorder and Healthy Volunteers Using Paired-Pulse Transcranial Magnetic Stimulation Completed NCT00029068
40 Clinical Trial of a Mechanical Device for the Treatment of Blepharospasm Completed NCT03269123
41 In Vivo Imaging of Therapeutic Electric Current Flow Completed NCT02453763
42 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
43 Impaired Motor Learning and LTP/LTD-like Plasticity in Dystonia, Are Associated With Abnormal Modulation of Cortical Excitability by Somatosensory Volleys Completed NCT00102999
44 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia and Other Focal Dystonias Completed NCT00713414
45 The Role of Cortical Coherence in Focal Hand Dystonia Completed NCT00137384
46 Long-Term Motor Learning in Focal Hand Dystonia Completed NCT00325091
47 Plasticity in Cervical Dystonia Completed NCT00323765
48 Loss of Depotentiation in Focal Dystonia Recruiting NCT03206112 Early Phase 1
49 Effectiveness Study of Finger Individuation Training by Finger Force Manipulandum (FFM) Compared to Conventional Rehabilitation for Patients With Writer's Cramp Recruiting NCT02882334
50 Comparison of Electrophysiologic And Ultrasound Guidance For Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia And Spasticity Recruiting NCT02334683

Search NIH Clinical Center for Focal Dystonia

Genetic Tests for Focal Dystonia

Anatomical Context for Focal Dystonia

MalaCards organs/tissues related to Focal Dystonia:

Brain, Cortex, Cerebellum, Eye, Thalamus, Subthalamic Nucleus, Globus Pallidus

Publications for Focal Dystonia

Articles related to Focal Dystonia:

(show top 50) (show all 1027)
# Title Authors PMID Year
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 54 61
17133500 2007
Clinical and genetic evaluation in a French population presenting with primary focal dystonia. 54 61
15726581 2005
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. 54 61
15037720 2004
Candidate gene studies in focal dystonia. 54 61
14581671 2003
Abnormalities of spatial discrimination in focal and generalized dystonia. 54 61
12821512 2003
Parkin disease: a phenotypic study of a large case series. 54 61
12764051 2003
The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. 54 61
11087801 2000
Search for a founder mutation in idiopathic focal dystonia from Northern Germany. 54 61
9837831 1998
Striatal [11C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography. 54 61
8101445 1993
The impact of cognitive and behavioral impairment in amyotrophic lateral sclerosis. 61
32031423 2020
Flanker Task Performance in Isolated Dystonia (Blepharospasm): A Focus on Sequential Effects. 61
32024200 2020
[How to explore… a cervical dystonia]. 61
32030938 2020
Internal Versus External Frame of Reference in Functional Movement Disorders. 61
31564234 2020
Oculomotor functions in focal dystonias: A systematic review. 61
31990980 2020
Normal temporal discrimination in musician's dystonia is linked to aberrant sensorimotor processing. 61
31930574 2020
Repurposing of FDA-Approved Drugs for Treating Iatrogenic Botulism: A Paired 3D-QSAR/Docking Approach†. 61
31774239 2020
Sensorimotor Perceptive Rehabilitation Integrated (SPRInt) program: exercises with augmented movement feedback associated to botulinum neurotoxin in idiopathic cervical dystonia-an observational study. 61
31478151 2020
The Effect of Computed Tomography-Guided Botulinum Toxin Injection on Cervical Dystonia, Confirmed by a 9-Month Follow-Up Using Positron Emission Tomography/Computed Tomography. 61
31850946 2020
Assessment of hand functions in patients with idiopathic cervical dystonia. 61
31950896 2020
Sex, Blinking, and Dry Eye. 61
31940243 2020
Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment. 61
31862983 2019
[Personality traits of Japanese patients with focal dystonia-Variable classification by affected body part and occupation]. 61
31761830 2019
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. 61
31848221 2019
Dystonias. 61
31820178 2019
Blepharospasm as the presenting feature of papillary thyroid cancer and parathyroid adenoma. 61
31889644 2019
Therapy of Sialorrhea with Botulinum Neurotoxin. 61
31542879 2019
Laryngeal vibration as a non-invasive neuromodulation therapy for spasmodic dysphonia. 61
31784618 2019
A trial of a mechanical device for the treatment of blepharospasm. 61
31267089 2019
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. 61
31621627 2019
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment. 61
31272925 2019
Maladaptive striatal plasticity and abnormal reward-learning in cervical dystonia. 61
30955204 2019
Cognitive correlates of prospective memory in dystonia. 61
31279634 2019
New approaches to discovering drugs that treat dystonia. 61
31159587 2019
A neural network-based software to recognise blepharospasm symptoms and to measure eye closure time. 61
31386970 2019
Defining the spectrum of spasticity-associated involuntary movements. 61
31109729 2019
Abnormalities in grey matter structure in embouchure dystonia. 61
31147222 2019
Neuromuscular incoordination in musician's dystonia. 61
31130362 2019
The extrinsic risk and its association with neural alterations in spasmodic dysphonia. 61
31153765 2019
[Therapy of Benign Essential Blepharospasm with Botulinum Toxin]. 61
30970386 2019
Blepharospasm: A genetic screening study in 132 patients. 61
30956059 2019
Update on current and emerging therapies for dystonia. 61
31117876 2019
Deep brain stimulation for dystonia in Finland during 2007-2016. 61
31234792 2019
Need to find a signature of abnormal brain oscillations in task-specific focal dystonia. 61
30987887 2019
Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration. 61
31371123 2019
Functional and structural neural bases of task specificity in isolated focal dystonia. 61
30840778 2019
Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia. 61
30918091 2019
Distinct roles of brain activity and somatotopic representation in pathophysiology of focal dystonia. 61
30570801 2019
An unusual presentation of superficial siderosis with focal dystonia and 'Giant panda morphology' on MRI: atypical clinicoradiological amalgam. 61
30465100 2019
Isolated Lingual Dystonia as the Manifestation of Acute Extrapyramidal Syndrome Induced by Metoclopramide. 61
31001033 2019
The Influence of Linguistic Demand on Symptom Expression in Adductor Spasmodic Dysphonia. 61
31047737 2019

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
Show member pathways
10.32 DRD5 DRD2
2 9.97 DRD5 DRD2

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 8.8 TBP TAF1L TAF1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.7 TBP TAF1L TAF1
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.54 GNAL DRD5 DRD2
3 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.51 DRD5 DRD2
4 startle response GO:0001964 9.49 PRKN DRD2
5 dopamine metabolic process GO:0042417 9.48 PRKN DRD2
6 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.46 DRD5 DRD2
7 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.43 GNAL DRD5
8 chaperone-mediated protein transport GO:0072321 9.4 TOR1A TIMM8A
9 DNA-templated transcription, initiation GO:0006352 9.33 TBP TAF1L TAF1
10 nuclear membrane organization GO:0071763 9.32 TOR1B TOR1A
11 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.26 TOR1A DRD2
12 negative regulation of blood pressure GO:0045776 9.13 GCH1 DRD5 DRD2
13 synaptic transmission, dopaminergic GO:0001963 8.8 PRKN DRD5 DRD2

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

# Name GO ID Score Top Affiliating Genes
1 TBP-class protein binding GO:0017025 9.37 TAF1L TAF1
2 lysine-acetylated histone binding GO:0070577 9.32 TAF1L TAF1
3 adrenergic receptor activity GO:0004935 9.26 DRD5 DRD2
4 dopamine binding GO:0035240 9.16 DRD5 DRD2
5 RNA polymerase II general transcription initiation factor activity GO:0016251 8.96 TBP TAF1
6 dopamine neurotransmitter receptor activity GO:0004952 8.62 DRD5 DRD2

Sources for Focal Dystonia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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