MCID: FCL022
MIFTS: 43

Focal Dystonia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Focal Dystonia

MalaCards integrated aliases for Focal Dystonia:

Name: Focal Dystonia 12 50 29 52 14 69
Ftsd 50 25
Dystonia, Focal, Task-Specific 69
Focal Task Specific Dystonia 50
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 : 50 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. last updated: 9/11/2013

MalaCards based summary : Focal Dystonia, also known as ftsd, is related to cervical dystonia and cranio-facial 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 Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin.

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.

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

Wikipedia : 72 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 75)
id Related Disease Score Top Affiliating Genes
1 cervical dystonia 30.7 CAMP CIZ1 THAP1 TOR1A
2 cranio-facial dystonia 30.5 CAMP THAP1 TOR1A
3 oromandibular dystonia 30.5 CAMP DRD5 THAP1 TOR1A
4 oculogyric crisis 30.0 CAMP CIZ1 DRD5 GNAL TOR1A
5 dystonia 25 11.5
6 blepharospasm 11.1
7 x-linked dystonia-parkinsonism/lubag 11.1
8 dystonia 24 11.1
9 partington syndrome 10.9
10 dystonia-parkinsonism, x-linked 10.9
11 blepharospasm, primary benign 10.9
12 torsion dystonia 7 10.8
13 dystonia 23 10.8
14 dystonia-1, torsion 10.8
15 focal hand dystonia 10.8
16 spasmodic dystonia 10.8
17 dystonia 10.8
18 spastic paraparesis 10.3 THAP1 TOR1A
19 carotid stenosis 10.1 DRD2 DRD5
20 eccentrochondrodysplasia 10.0 ANO3 THAP1 TOR1A
21 bulimia nervosa, age of onset of weight loss in 10.0 ANO3 THAP1 TOR1A
22 hemifacial spasm 10.0
23 ataxia 9.9
24 cervicitis 9.8
25 cerebritis 9.8
26 tremor 9.8
27 anismus 9.8 CAMP TOR1A
28 charcot-marie-tooth neuropathy, x-linked recessive, 3 9.8 TAF1 THAP1
29 contact dermatitis 9.8 DRD2 DRD5
30 ganglioneuroma 9.8 DRD2 SGCE TOR1A
31 neurofibromatosis, type 1 9.6
32 encephalitis 9.6
33 scoliosis 9.6
34 toxoplasmosis 9.6
35 creutzfeldt-jakob disease 9.6
36 idiopathic scoliosis 9.6
37 autoimmune encephalitis 9.6
38 mohr-tranebjaerg syndrome 9.6
39 oligoastrocytoma 9.6
40 siderosis 9.6
41 spasmodic dysphonia 9.6
42 epilepsy 9.6
43 brain injury 9.6
44 focal epilepsy 9.6
45 spinal stenosis 9.6
46 cerebral hypoxia 9.6
47 cerebellar ataxia 9.6
48 traumatic brain injury 9.6
49 chronic pain 9.6
50 restless legs syndrome 9.6

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

Drugs & Therapeutics for Focal Dystonia

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
2 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
4 abobotulinumtoxinA Phase 4,Phase 3
5 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
6 Botulinum Toxins, Type A Phase 4,Phase 3
7 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Neuromuscular Agents Phase 4,Phase 3,Phase 2
9 onabotulinumtoxinA Phase 4,Phase 3
10 rimabotulinumtoxinB Phase 4
11
Amlodipine Approved Phase 2 88150-42-9 2162
12
Mexiletine Approved Phase 2 31828-71-4 4178
13 Antihypertensive Agents Phase 2
14 calcium channel blockers Phase 2
15 Calcium, Dietary Phase 2
16 Vasodilator Agents Phase 2
17 Anti-Arrhythmia Agents Phase 2
18 Diuretics, Potassium Sparing Phase 2
19 Sodium Channel Blockers Phase 2
20 incobotulinumtoxinA Phase 2
21
Dopamine Approved 51-61-6, 62-31-7 681
22
Flumazenil Approved 78755-81-4 3373
23 Autonomic Agents
24 Dopamine Agents
25 Protective Agents

Interventional clinical trials:

(show top 50) (show all 62)

id 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 Safety and Tolerability of Perampanel in Cervical Dystonia Unknown status NCT02131467 Phase 1, Phase 2 Perampanel
4 Amlodipine Plus Botulinum Toxin 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 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2
7 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
8 rTMS and Retraining in Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
9 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
10 Transcranial Electrical Polarization to Treat Focal Hand Dystonia Completed NCT00106782 Phase 2
11 Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp Completed NCT02015039 Phase 1, Phase 2 BoNT Injections
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 Deep Brain Stimulation Surgery for Focal Hand Dystonia Not yet recruiting NCT02911103 Phase 1, Phase 2
14 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
15 Motor and Premotor Cortex Stimulation for Treatment of Secondary Focal Dystonia With Striato Palliadal Lesion : Evaluation of Safety and Effectiveness Completed NCT00505323 Phase 1
16 Repetitive Transcranial Magnetic Stimulation for the Treatment of Focal Hand Dystonia Completed NCT01884064 Phase 1
17 Magnetic Resonance (MR) Guided Functional Ultrasound-Neurosurgery for Movement Disorders Completed NCT01698450 Phase 1
18 Role of Dopamine Receptors in Primary Focal Dystonias Unknown status NCT01373840
19 Somatosensory Processing in Focal Hand Dystonia Unknown status NCT00579033
20 Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm Unknown status NCT01759745
21 Survey of Sensory and Motor Tricks in Focal Dystonia Completed NCT00054652
22 Association Between Focal Dystonia and Complex Regional Pain Syndrome Completed NCT00595439
23 Sensory Training to Treat Focal Dystonia Completed NCT00006336
24 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia Completed NCT00713414
25 EEG and EMG Studies of Hand Dystonia Completed NCT00025701
26 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
27 Brain Changes in Patients With Focal Hand Dystonia Completed NCT00306865
28 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
29 Brain Function in Focal Dystonia Completed NCT00102999
30 Movement-Related Brain Networks Involved in Hand Dystonia Completed NCT00137384
31 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
32 Transcranial Magnetic Stimulation (TMS) Studies of Dystonia Completed NCT00017875
33 Surround Inhibition in Patients With Dystonia Completed NCT00029601
34 Long-Term Motor Learning in Focal Hand Dystonia Completed NCT00325091
35 Movement Disorder Survey in East China Completed NCT01168388
36 A Mechanical Device for Blepharospasm Completed NCT03269123
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 Muscle Contraction in Patients With Focal Hand Dystonia Completed NCT00376753
41 Identification of Optimal Stimulation Site for Cervical Dystonia Symptoms: An Exploratory Study Completed NCT01859247
42 Loss of Depotentiation in Focal Dystonia Recruiting NCT03206112 Early Phase 1
43 Functional Connectivity in Primary Focal Dystonia Recruiting NCT01761903
44 Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia Recruiting NCT02334683
45 Finger Individuation Training With a Training Device Versus Conventional Rehabilitation for Writer's Cramp Recruiting NCT02882334
46 rTMS in Spasmodic Dysphonia Recruiting NCT02957942
47 Neurophysiologic Study of Patient With Essential Tremor and Dystonic Tremor Recruiting NCT03041714
48 rTMS and Botulinum Toxin in Primary Cervical Dystonia Recruiting NCT02542839
49 Sensorimotor Mapping in Patients With Writer's Cramp Recruiting NCT03085745
50 Imaging Genetics of Spasmodic Dysphonia Recruiting NCT03042975

Search NIH Clinical Center for Focal Dystonia

Genetic Tests for Focal Dystonia

Genetic tests related to Focal Dystonia:

id Genetic test Affiliating Genes
1 Focal Dystonia 29

Anatomical Context for Focal Dystonia

MalaCards organs/tissues related to Focal Dystonia:

39
Brain, Cortex, Skin

Publications for Focal Dystonia

Articles related to Focal Dystonia:

(show top 50) (show all 217)
id Title Authors Year
1
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease. ( 28401296 )
2017
2
Botulinum toxin for treatment of the focal dystonia. ( 28652522 )
2017
3
Acute Focal Dystonia After a Single Dose of Oral Cetirizine in a 9-Year-Old Boy. ( 28169979 )
2017
4
Psychiatric associations of adult-onset focal dystonia phenotypes. ( 28438790 )
2017
5
Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia. ( 28674168 )
2017
6
Musician's Focal Dystonia. ( 28510682 )
2017
7
The impact of stress on motor performance in skilled musicians suffering from focal dystonia: Physiological and psychological characteristics. ( 27033741 )
2016
8
Sonographic Alteration of Basal Ganglia in Different Forms of Primary Focal Dystonia: A Cross-sectional Study. ( 27064039 )
2016
9
Poster 247 Treatment of Post-Traumatic Chronic Abdominal Pain due to Focal Dystonia with Onabotulinumtoxin A: Two Case Reports. ( 27673004 )
2016
10
Neurofibromatosis type 1: focal dystonia associated with a malignant peripheral nerve sheath tumour-a video-illustrated case. ( 27797864 )
2016
11
Adult onset primary focal dystonia of the foot: an orthopaedic intervention. ( 27030449 )
2016
12
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
13
Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models. ( 27168150 )
2016
14
Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients. ( 27225998 )
2016
15
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. ( 26803725 )
2016
16
The curse of motor expertise: Use-dependent focal dystonia as a manifestation of maladaptive changes in body representation. ( 26689332 )
2016
17
Is failed predictive control a risk factor for focal dystonia? ( 27787939 )
2016
18
Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. ( 27721106 )
2016
19
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. ( 27647704 )
2016
20
Rapidly Cycling Auras and Episodic Focal Dystonia in Anti-LGI1 Autoimmune Encephalitis. ( 27399958 )
2016
21
Sensory-motor integration in focal dystonia. ( 26164472 )
2015
22
The spread of primary late-onset focal dystonia in a long-term follow up study. ( 25764999 )
2015
23
A Patient With Focal Dystonia That Occurred Secondary to a Peripheral Neurogenic Tumor: A Case Report. ( 26361606 )
2015
24
Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks. ( 26679193 )
2015
25
Life satisfaction of musicians with focal dystonia. ( 25964508 )
2015
26
High prevalence of primary focal dystonia in the Faroe Islands. ( 26041438 )
2015
27
Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances. ( 26360238 )
2015
28
Hyoid muscle dystonia: A distinct focal dystonia syndrome. ( 26324211 )
2015
29
Focal dystonia in musicians: Phenomenology and musical triggering factors. ( 25102827 )
2014
30
Connectivity patterns of pallidal DBS electrodes in focal dystonia: a diffusion tensor tractography study. ( 24045076 )
2014
31
Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE). ( 24999327 )
2014
32
Psychiatric disorders in idiopathic-isolated focal dystonia. ( 24449065 )
2014
33
Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies. ( 25538612 )
2014
34
Finger-specific loss of independent control of movements in musicians with focal dystonia. ( 23707706 )
2013
35
Striatal dopamine D1-like receptor binding is unchanged in primary focal dystonia. ( 24151192 )
2013
36
Focal dystonia of right hand with mirror movements upon use of left arm. ( 23673180 )
2013
37
Acute focal dystonia induced by a tricyclic antidepressant in a patient with Wilson disease: a case report. ( 24166573 )
2013
38
Novel use of intrathecal baclofen drug delivery system for periodic focal dystonia in a teenager. ( 23009035 )
2013
39
A model of task-specific focal dystonia. ( 23892909 )
2013
40
Sensory tricks in focal dystonia and hemifacial spasm. ( 23216586 )
2013
41
Writer's cramp: is focal dystonia the best explanation? ( 23885297 )
2013
42
kinesiotaping reduces pain and modulates sensory function in patients with focal dystonia: a randomized crossover pilot study. ( 23764884 )
2013
43
Diagnosis and treatment of abductor hallucis focal dystonia with botulinum toxin injection: a case presentation. ( 23953019 )
2013
44
Focal dystonia in musicians: linking motor symptoms to somatosensory dysfunction. ( 23805090 )
2013
45
Kinematic analysis of grasping in focal dystonia of the face and neck. ( 23395859 )
2013
46
Obsessive-compulsive-spectrum symptoms in patients with focal dystonia, hemifacial spasm, and healthy subjects. ( 22450617 )
2012
47
Musicians' social representations of health and illness: a qualitative case study about focal dystonia. ( 22246303 )
2012
48
Neural network of primary focal dystonia by an anatomic likelihood estimation meta-analysis of gray matter abnormalities. ( 22349356 )
2012
49
Delayed-onset focal dystonia of the leg secondary to traumatic brain injury. ( 22341145 )
2012
50
Neurological picture. Isolated cerebellar hemiatrophy related with focal dystonia. ( 22842205 )
2012

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:

id Super pathways Score Top Affiliating Genes
1 11.49 DRD2 DRD5 GNAL
2 10.02 DRD2 DRD5

GO Terms for Focal Dystonia

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

id Name GO ID Score Top Affiliating Genes
1 ciliary membrane GO:0060170 9.16 DRD2 DRD5
2 transcription factor TFIID complex GO:0005669 8.96 TAF1 TBP
3 non-motile cilium GO:0097730 8.62 DRD2 DRD5

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.54 DRD5 GNAL
2 response to cocaine GO:0042220 9.52 DRD2 DRD5
3 activation of adenylate cyclase activity GO:0007190 9.51 DRD5 GNAL
4 DNA-templated transcription, initiation GO:0006352 9.49 TAF1 TBP
5 negative regulation of blood pressure GO:0045776 9.48 DRD2 DRD5
6 associative learning GO:0008306 9.46 DRD2 DRD5
7 response to amphetamine GO:0001975 9.43 DRD2 DRD5
8 synaptic transmission, dopaminergic GO:0001963 9.37 DRD2 DRD5
9 RNA polymerase II transcriptional preinitiation complex assembly GO:0051123 9.32 TAF1 TBP
10 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.26 DRD2 DRD5
11 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.16 DRD5 GNAL
12 dopamine receptor signaling pathway GO:0007212 9.1 DRD2
13 chaperone-mediated protein transport GO:0072321 8.96 TIMM8A TOR1A
14 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:

id Name GO ID Score Top Affiliating Genes
1 dopamine binding GO:0035240 9.16 DRD2 DRD5
2 dopamine neurotransmitter receptor activity GO:0004952 8.96 DRD2 DRD5
3 RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly GO:0001129 8.62 TAF1 TBP

Sources for Focal Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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