FTSD
MCID: FCL022
MIFTS: 44

Focal Dystonia (FTSD) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Focal Dystonia

Aliases & Descriptions 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 spasmodic 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 Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin.

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 : 71 Focal dystonia is a neurological condition that affects a muscle or group of muscles in a specific part... 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 31.8 GCH1 SGCE TOR1A
2 spasmodic dystonia 31.4 DRD5 THAP1 TOR1A
3 focal hand dystonia 30.7 CIZ1 GCH1 SGCE THAP1 TOR1A
4 oromandibular dystonia 30.6 CIZ1 DRD5 GCH1 GNAL HLA-DRB1 TOR1A
5 dystonia 25 11.5
6 blepharospasm 11.1
7 blepharospasm, primary benign 11.0
8 dystonia 24 11.0
9 partington syndrome 11.0
10 dystonia-1, torsion 10.8
11 oculogyric crisis 10.8
12 cranio-facial dystonia 10.8
13 dystonia 10.8
14 spastic paraplegia 15 10.2 THAP1 TOR1A
15 ectodermal dysplasia blindness 10.2 THAP1 TOR1A
16 rectosigmoid junction neoplasm 10.1 DRD2 DRD5
17 segmental dystonia 10.1 DRD2 THAP1 TOR1A
18 microcephaly 12, primary, autosomal recessive 10.1 DRD2 SGCE TOR1A
19 specific language impairment 5 10.1 GCH1 TOR1A
20 spastic paraplegia 44, autosomal recessive 10.1 GCH1 TOR1A
21 hemidystonia 10.0 GCH1 THAP1 TOR1A
22 aortic valve disease 2 10.0 DRD2 DRD5 SGCE
23 sjogren's syndrome 10.0 SGCE TBP
24 lethal congenital contracture syndrome 1 10.0 GCH1 SGCE TOR1A
25 hemifacial spasm 10.0
26 overuse syndrome 10.0 DRD2 SGCE
27 hemochromatosis, type 2a 9.9 DRD2 GCH1 TBP
28 periampullary adenoma 9.9 GCH1 SGCE THAP1 TOR1A
29 ataxia 9.9
30 cavernous hemangioma 9.9 DRD2 GCH1 SGCE TOR1A
31 alpha thalassemia-x-linked intellectual disability syndrome 9.9 GCH1 SGCE THAP1 TOR1A
32 cervicitis 9.8
33 cerebritis 9.8
34 tremor 9.8
35 obstructive sleep apnea 9.8 DRD5 GCH1 SGCE THAP1 TOR1A
36 bartholin's gland transitional cell carcinoma 9.8 DRD5 GCH1 SGCE THAP1 TOR1A
37 sleep apnea 9.7 ANO3 GNAL THAP1 TOR1A
38 capos syndrome 9.7 GCH1 GNAL SGCE THAP1 TOR1A
39 pituitary gland disease 9.6 DRD5 GCH1 GNAL THAP1 TIMM8A TOR1A
40 brain injury 9.6
41 cerebral hypoxia 9.6
42 spinal stenosis 9.6
43 chronic pain 9.6
44 traumatic brain injury 9.6
45 kallmann syndrome 9.6
46 restless legs syndrome 9.6
47 ulnar neuropathy 9.6
48 hypoxia 9.6
49 cerebellar ataxia 9.6
50 vitamin b12 deficiency 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 41)
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
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Ibuprofen Approved Phase 4 15687-27-1 3672
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
7 abobotulinumtoxinA Phase 4,Phase 3,Phase 2
8 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
9 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2
10 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
12 Neuromuscular Agents Phase 4,Phase 3,Phase 2
13 onabotulinumtoxinA Phase 4,Phase 3,Phase 2
14 rimabotulinumtoxinB Phase 4
15 Adjuvants, Anesthesia Phase 4
16 Analgesics Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Analgesics, Opioid Phase 4
19 Anesthetics Phase 4
20 Anesthetics, General Phase 4
21 Anesthetics, Intravenous Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Antirheumatic Agents Phase 4
25 Central Nervous System Depressants Phase 4
26 Cyclooxygenase Inhibitors Phase 4
27 Narcotics Phase 4
28
Amlodipine Approved Phase 2 88150-42-9 2162
29
Mexiletine Approved Phase 2 31828-71-4 4178
30 Antihypertensive Agents Phase 2
31 calcium channel blockers Phase 2
32 Calcium, Dietary Phase 2
33 Vasodilator Agents Phase 2
34 Anti-Arrhythmia Agents Phase 2
35 Diuretics, Potassium Sparing Phase 2
36 Sodium Channel Blockers Phase 2
37
Dopamine Approved 51-61-6, 62-31-7 681
38
Flumazenil Approved 78755-81-4 3373
39 Autonomic Agents
40 Dopamine Agents
41 Protective Agents

Interventional clinical trials:

(show top 50) (show all 64)
id Name Status NCT ID Phase
1 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
2 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4
3 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Recruiting NCT02326818 Phase 3
4 Safety and Tolerability of Perampanel in Cervical Dystonia Unknown status NCT02131467 Phase 1, Phase 2
5 Amlodipine Plus Botulinum Toxin for Focal Dystonia Completed NCT00015457 Phase 2
6 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2
7 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2
8 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2
9 rTMS and Retraining in Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
10 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
11 Transcranial Electrical Polarization to Treat Focal Hand Dystonia Completed NCT00106782 Phase 2
12 Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp Completed NCT02015039 Phase 1, Phase 2
13 Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Recruiting NCT02107261 Phase 2
14 Deep Brain Stimulation Surgery for Focal Hand Dystonia Not yet recruiting NCT02911103 Phase 1, Phase 2
15 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2
16 Motor and Premotor Cortex Stimulation for Treatment of Secondary Focal Dystonia With Striato Palliadal Lesion : Evaluation of Safety and Effectiveness Completed NCT00505323 Phase 1
17 Repetitive Transcranial Magnetic Stimulation for the Treatment of Focal Hand Dystonia Completed NCT01884064 Phase 1
18 Magnetic Resonance (MR) Guided Functional Ultrasound-Neurosurgery for Movement Disorders Completed NCT01698450 Phase 1
19 Role of Dopamine Receptors in Primary Focal Dystonias Unknown status NCT01373840
20 Somatosensory Processing in Focal Hand Dystonia Unknown status NCT00579033
21 Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm Unknown status NCT01759745
22 Survey of Sensory and Motor Tricks in Focal Dystonia Completed NCT00054652
23 Association Between Focal Dystonia and Complex Regional Pain Syndrome Completed NCT00595439
24 Sensory Training to Treat Focal Dystonia Completed NCT00006336
25 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia Completed NCT00713414
26 EEG and EMG Studies of Hand Dystonia Completed NCT00025701
27 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
28 Brain Changes in Patients With Focal Hand Dystonia Completed NCT00306865
29 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
30 Brain Function in Focal Dystonia Completed NCT00102999
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 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
37 Plasticity in Cervical Dystonia Completed NCT00323765
38 Cortical Excitability in Obsessive-Compulsive and Related Disorders Completed NCT00029068
39 Muscle Contraction in Patients With Focal Hand Dystonia Completed NCT00376753
40 Identification of Optimal Stimulation Site for Cervical Dystonia Symptoms: An Exploratory Study Completed NCT01859247
41 Validating a New Writer s Cramp Scale Completed NCT01579266
42 Extracorporeal Shock Wave Therapy (ESWT) for the Treatment of Spasticity in Persons With Spinal Cord Injury Completed NCT02203994
43 MDs on Botox Utility (MOBILITY) Completed NCT00535938
44 Functional Connectivity in Primary Focal Dystonia Recruiting NCT01761903
45 Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia Recruiting NCT02334683
46 Finger Individuation Training With a Training Device Versus Conventional Rehabilitation for Writer's Cramp Recruiting NCT02882334
47 Depotentiation in People With Focal Hand Dystonia Recruiting NCT02106936
48 Brain Networks in Dystonia Recruiting NCT03042962
49 rTMS in Spasmodic Dysphonia Recruiting NCT02957942
50 Neurophysiologic Study of Patient With Essential Tremor and Dystonic Tremor Recruiting NCT03041714

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 212)
id Title Authors Year
1
Musician's Focal Dystonia. ( 28510682 )
2017
2
Adult onset primary focal dystonia of the foot: an orthopaedic intervention. ( 27030449 )
2016
3
Is failed predictive control a risk factor for focal dystonia? ( 27787939 )
2016
4
Neurofibromatosis type 1: focal dystonia associated with a malignant peripheral nerve sheath tumour-a video-illustrated case. ( 27797864 )
2016
5
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. ( 26803725 )
2016
6
The impact of stress on motor performance in skilled musicians suffering from focal dystonia: Physiological and psychological characteristics. ( 27033741 )
2016
7
Poster 247 Treatment of Post-Traumatic Chronic Abdominal Pain due to Focal Dystonia with Onabotulinumtoxin A: Two Case Reports. ( 27673004 )
2016
8
Rapidly Cycling Auras and Episodic Focal Dystonia in Anti-LGI1 Autoimmune Encephalitis. ( 27399958 )
2016
9
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
10
Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models. ( 27168150 )
2016
11
Sonographic Alteration of Basal Ganglia in Different Forms of Primary Focal Dystonia: A Cross-sectional Study. ( 27064039 )
2016
12
Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients. ( 27225998 )
2016
13
The curse of motor expertise: Use-dependent focal dystonia as a manifestation of maladaptive changes in body representation. ( 26689332 )
2016
14
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. ( 27647704 )
2016
15
Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. ( 27721106 )
2016
16
Hyoid muscle dystonia: A distinct focal dystonia syndrome. ( 26324211 )
2015
17
Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances. ( 26360238 )
2015
18
Sensory-motor integration in focal dystonia. ( 26164472 )
2015
19
A Patient With Focal Dystonia That Occurred Secondary to a Peripheral Neurogenic Tumor: A Case Report. ( 26361606 )
2015
20
High prevalence of primary focal dystonia in the Faroe Islands. ( 26041438 )
2015
21
The spread of primary late-onset focal dystonia in a long-term follow up study. ( 25764999 )
2015
22
Life satisfaction of musicians with focal dystonia. ( 25964508 )
2015
23
Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks. ( 26679193 )
2015
24
Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies. ( 25538612 )
2014
25
Connectivity patterns of pallidal DBS electrodes in focal dystonia: a diffusion tensor tractography study. ( 24045076 )
2014
26
Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE). ( 24999327 )
2014
27
Psychiatric disorders in idiopathic-isolated focal dystonia. ( 24449065 )
2014
28
Focal dystonia in musicians: Phenomenology and musical triggering factors. ( 25102827 )
2014
29
Focal dystonia of right hand with mirror movements upon use of left arm. ( 23673180 )
2013
30
kinesiotaping reduces pain and modulates sensory function in patients with focal dystonia: a randomized crossover pilot study. ( 23764884 )
2013
31
Striatal dopamine D1-like receptor binding is unchanged in primary focal dystonia. ( 24151192 )
2013
32
Novel use of intrathecal baclofen drug delivery system for periodic focal dystonia in a teenager. ( 23009035 )
2013
33
Diagnosis and treatment of abductor hallucis focal dystonia with botulinum toxin injection: a case presentation. ( 23953019 )
2013
34
Writer's cramp: is focal dystonia the best explanation? ( 23885297 )
2013
35
Acute focal dystonia induced by a tricyclic antidepressant in a patient with Wilson disease: a case report. ( 24166573 )
2013
36
Sensory tricks in focal dystonia and hemifacial spasm. ( 23216586 )
2013
37
A model of task-specific focal dystonia. ( 23892909 )
2013
38
Finger-specific loss of independent control of movements in musicians with focal dystonia. ( 23707706 )
2013
39
Focal dystonia in musicians: linking motor symptoms to somatosensory dysfunction. ( 23805090 )
2013
40
Kinematic analysis of grasping in focal dystonia of the face and neck. ( 23395859 )
2013
41
Delayed-onset focal dystonia of the leg secondary to traumatic brain injury. ( 22341145 )
2012
42
Steroid-responsive focal epilepsy with focal dystonia accompanied by glutamate receptor delta2 antibody. ( 22613698 )
2012
43
Botulinum toxin as treatment for focal dystonia: a systematic review of the pharmaco-therapeutic and pharmaco-economic value. ( 22552527 )
2012
44
Obsessive-compulsive-spectrum symptoms in patients with focal dystonia, hemifacial spasm, and healthy subjects. ( 22450617 )
2012
45
Neurological picture. Isolated cerebellar hemiatrophy related with focal dystonia. ( 22842205 )
2012
46
Epidural premotor cortical stimulation in primary focal dystonia: clinical and 18F-fluoro deoxyglucose positron emission tomography open study. ( 22344674 )
2012
47
Treatment of focal dystonia. ( 22415705 )
2012
48
Rehabilitation of a cellist whose vibrato was affected by focal dystonia. ( 23247881 )
2012
49
Neural network of primary focal dystonia by an anatomic likelihood estimation meta-analysis of gray matter abnormalities. ( 22349356 )
2012
50
Musicians' social representations of health and illness: a qualitative case study about focal dystonia. ( 22246303 )
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 8.96 DRD2 DRD5
2 non-motile cilium GO:0097730 8.62 DRD2 DRD5

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.49 DRD5 GNAL
2 response to cocaine GO:0042220 9.48 DRD2 DRD5
3 activation of adenylate cyclase activity GO:0007190 9.46 DRD5 GNAL
4 associative learning GO:0008306 9.43 DRD2 DRD5
5 response to amphetamine GO:0001975 9.4 DRD2 DRD5
6 synaptic transmission, dopaminergic GO:0001963 9.37 DRD2 DRD5
7 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.32 DRD2 DRD5
8 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.26 DRD5 GNAL
9 chaperone-mediated protein transport GO:0072321 9.16 TIMM8A TOR1A
10 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 DRD2 TOR1A
11 negative regulation of blood pressure GO:0045776 8.8 DRD2 DRD5 GCH1

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 8.96 DRD2 DRD5
2 dopamine neurotransmitter receptor activity GO:0004952 8.62 DRD2 DRD5

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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