MCID: FCL049
MIFTS: 36

Focal Hand Dystonia

Categories: Neuronal diseases

Aliases & Classifications for Focal Hand Dystonia

MalaCards integrated aliases for Focal Hand Dystonia:

Name: Focal Hand Dystonia 12 15
Organic Writer's Cramp 12 73
Dystonia, Focal, Task-Specific 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050841
ICD9CM 35 333.84
SNOMED-CT 68 52008007

Summaries for Focal Hand Dystonia

Disease Ontology : 12 A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.

MalaCards based summary : Focal Hand Dystonia, also known as organic writer's cramp, is related to focal dystonia and dystonia, and has symptoms including ataxia and spasmodic torticollis. An important gene associated with Focal Hand Dystonia is TOR1A (Torsin Family 1 Member A). The drugs Acetylcholine and Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are mortality/aging and vision/eye

Related Diseases for Focal Hand Dystonia

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 focal dystonia 32.7 CAMP DRD5 THAP1 TOR1A
2 dystonia 31.3 DRD5 PANK2 THAP1 TOR1A VIM
3 cervical dystonia 29.9 CAMP DRD5 THAP1 TOR1A
4 multifocal dystonia 10.2 CAMP TOR1A
5 spasmodic dysphonia 10.2 THAP1 TOR1A
6 early-onset generalized dystonia 10.2 THAP1 TOR1A
7 dystonia 24 10.2 THAP1 TOR1A
8 leukodystrophy, hypomyelinating, 2 10.1 PANK2 TOR1A
9 dystonia, dopa-responsive 10.1 THAP1 TOR1A
10 oromandibular dystonia 10.1 CAMP THAP1 TOR1A
11 segmental dystonia 10.1 CAMP THAP1 TOR1A
12 discrimination, two-point, reduction in 10.1
13 bednar tumor 10.1 PDGFB VIM
14 anterior horn cell disease 10.1 CAMP FUS
15 dystonia 1, torsion, autosomal dominant 10.1 CAMP TOR1A VIM
16 basal ganglia disease 10.1 PDGFB THAP1
17 cutaneous fibrous histiocytoma 10.1 PDGFB VIM
18 basal ganglia calcification 10.0 PDGFB THAP1
19 mixed liposarcoma 10.0 FUS PDGFB
20 extraskeletal ewing sarcoma 10.0 FUS VIM
21 dystonia 12 10.0 CAMP PANK2 THAP1 TOR1A
22 spasmodic dystonia 10.0 CAMP PDE8B THAP1 TOR1A
23 blepharospasm 10.0 CAMP DRD5 THAP1 TOR1A
24 lymphedema, hereditary, ii 10.0 CAMP DRD5 THAP1 TOR1A
25 meningioma, radiation-induced 10.0 PDGFB VIM
26 hemidystonia 10.0 CAMP THAP1 TOR1A VIM
27 dystonia 11, myoclonic 10.0 CAMP THAP1 TOR1A VIM
28 tendinitis 9.9
29 thoracic outlet syndrome 9.9
30 nerve compression syndrome 9.9
31 neuropathy 9.9
32 myoclonus 9.9
33 whiplash 9.9
34 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 CBS FUS
35 connective tissue cancer 9.8 FUS PDGFB

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



Diseases related to Focal Hand Dystonia

Symptoms & Phenotypes for Focal Hand Dystonia

UMLS symptoms related to Focal Hand Dystonia:


ataxia, spasmodic torticollis

MGI Mouse Phenotypes related to Focal Hand Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 CAMP DRD5 EDC4 PANK2 PDGFB RIMS2
2 vision/eye MP:0005391 9.17 CAMP DRD5 PANK2 PDGFB THAP1 TOR1A

Drugs & Therapeutics for Focal Hand Dystonia

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 3,Phase 1,Phase 2,Not Applicable 51-84-3 187
2 Acetylcholine Release Inhibitors Phase 3,Phase 1,Phase 2,Not Applicable
3 onabotulinumtoxinA Phase 3,Not Applicable
4 Cholinergic Agents Phase 3,Phase 1,Phase 2,Not Applicable
5 Neurotransmitter Agents Phase 3,Phase 1,Phase 2,Not Applicable
6 abobotulinumtoxinA Phase 3,Not Applicable
7 Peripheral Nervous System Agents Phase 3,Phase 2,Not Applicable
8 Neuromuscular Agents Phase 3,Phase 2,Not Applicable
9 Botulinum Toxins, Type A Phase 3,Not Applicable
10 Botulinum Toxins Phase 3,Phase 1,Phase 2,Not Applicable
11 incobotulinumtoxinA Phase 2,Not Applicable
12
Flumazenil Approved 78755-81-4 3373
13 Insulin, Globin Zinc Not Applicable
14 insulin Not Applicable

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Recruiting NCT02326818 Phase 3
2 Transcranial Electrical Polarization to Treat Focal Hand Dystonia Completed NCT00106782 Phase 2
3 rTMS and Retraining in Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
4 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2
5 Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp Completed NCT02015039 Phase 1, Phase 2 BoNT Injections
6 Deep Brain Stimulation Surgery for Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
7 Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Recruiting NCT02107261 Phase 2 incobotulinumtoxin A
8 Repetitive Transcranial Magnetic Stimulation for the Treatment of Focal Hand Dystonia Completed NCT01884064 Phase 1
9 Somatosensory Processing in Focal Hand Dystonia Unknown status NCT00579033 Not Applicable
10 Long-Term Motor Learning in Focal Hand Dystonia Completed NCT00325091
11 Muscle Contraction in Patients With Focal Hand Dystonia Completed NCT00376753
12 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
13 Brain Changes in Patients With Focal Hand Dystonia Completed NCT00306865
14 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
15 Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients Completed NCT03664375 Not Applicable
16 Movement-Related Brain Networks Involved in Hand Dystonia Completed NCT00137384
17 EEG and EMG Studies of Hand Dystonia Completed NCT00025701
18 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
19 Sensory Training to Treat Focal Dystonia Completed NCT00006336
20 Validating a New Writer s Cramp Scale Completed NCT01579266
21 Association Between Focal Dystonia and Complex Regional Pain Syndrome Completed NCT00595439
22 Effect of Increasing Motor Cortex Inhibition on Task Specific Dystonia Recruiting NCT01823237 Not Applicable
23 Pathophysiology of Dystonia and Complex Regional Pain Syndrome Recruiting NCT03223623
24 Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia Recruiting NCT02334683 Not Applicable
25 Validation of the Zigzag Tracking Task Test for the Evaluation of Handwriting Difficulties in Writer's Cramp Recruiting NCT02882295
26 Brain Networks in Dystonia Enrolling by invitation NCT03042962
27 Transcranial Magnetic Stimulation for Focal Hand Dystonia Suspended NCT01792336
28 Depotentiation in People With Focal Hand Dystonia Terminated NCT02106936
29 Brain Anatomy in Dystonia Terminated NCT00031369

Search NIH Clinical Center for Focal Hand Dystonia

Genetic Tests for Focal Hand Dystonia

Anatomical Context for Focal Hand Dystonia

MalaCards organs/tissues related to Focal Hand Dystonia:

41
Cortex, Brain, Cerebellum, Testes

Publications for Focal Hand Dystonia

Articles related to Focal Hand Dystonia:

(show top 50) (show all 135)
# Title Authors Year
1
Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson's Disease and Focal Hand Dystonia. ( 29316781 )
2018
2
Loss of inhibition in sensorimotor networks in focal hand dystonia. ( 29062685 )
2018
3
Neuromuscular Re-Education Programs for Musicians with Focal Hand Dystonia: A Systematic Review. ( 29868689 )
2018
4
Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia. ( 30405710 )
2018
5
Stereotactic Lesioning of the Thalamic Vo Nucleus for the Treatment of Writer's Cramp (Focal Hand Dystonia). ( 30534112 )
2018
6
Testing rTMS-Induced Neuroplasticity: A Single Case Study of Focal Hand Dystonia. ( 30002674 )
2018
7
Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study. ( 28955194 )
2017
8
A prognostic factor in focal hand dystonia: typist's cramp cases and literature review. ( 27871456 )
2016
9
A neuromorphic model of motor overflow in focal hand dystonia due to correlated sensory input. ( 27578228 )
2016
10
Non-Invasive Brain Stimulation for Treatment of Focal Hand Dystonia: Update and Future Direction. ( 27240806 )
2016
11
An unusual cause of focal hand dystonia due to a retained implant of the distal radius. ( 26746833 )
2016
12
Haptic Feedback Manipulation During Botulinum Toxin Injection Therapy for Focal Hand Dystonia Patients: A Possible New Assistive Strategy. ( 27552765 )
2016
13
Objective Evaluation of Performance Stress in Musicians With Focal Hand Dystonia: A Case Series. ( 27715491 )
2016
14
Haptic Feedback Manipulation During Botulinum Toxin Injection Therapy for Focal Hand Dystonia Patients: A Possible New Assistive Strategy. ( 28113638 )
2016
15
A practical approach to management of focal hand dystonia. ( 26019409 )
2015
16
Mixed effectiveness of rTMS and retraining in the treatment of focal hand dystonia. ( 26217209 )
2015
17
Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia. ( 26042019 )
2015
18
Focal hand dystonia: individualized intervention with repeated application of repetitive transcranial magnetic stimulation. ( 25256555 )
2014
19
Normalizing Biased Spatial Attention With Parietal rTMS in a Patient With Focal Hand Dystonia. ( 25178660 )
2014
20
Sensory abnormalities in focal hand dystonia and non-invasive brain stimulation. ( 25538594 )
2014
21
Primary somatosensory cortical plasticity and tactile temporal discrimination in focal hand dystonia. ( 24012050 )
2014
22
A multifactorial conceptual model of peripheral neuromusculoskeletal predisposing factors in task-specific focal hand dystonia in musicians: etiologic and therapeutic implications. ( 25323627 )
2014
23
Multiple changes of functional connectivity between sensorimotor areas in focal hand dystonia. ( 24706945 )
2014
24
Focal hand dystonia: using brain stimulation to probe network interactions and brain plasticity. ( 25042177 )
2014
25
Complex-value coherence mapping reveals novel abnormal resting-state functional connectivity networks in task-specific focal hand dystonia. ( 24133480 )
2013
26
Treatment effectiveness of brain-computer interface training for patients with focal hand dystonia: A double-case study. ( 24109677 )
2013
27
Alteration in forward model prediction of sensory outcome of motor action in focal hand dystonia. ( 23882198 )
2013
28
Abnormal movement preparation in task-specific focal hand dystonia. ( 24167610 )
2013
29
Abnormal experimentally- and behaviorally-induced LTP-like plasticity in focal hand dystonia. ( 23142185 )
2013
30
A combination of constraint-induced therapy and motor control retraining in the treatment of focal hand dystonia in musicians: a long-term follow-up study. ( 23462903 )
2013
31
Focal hand dystonia in musicians: a synopsis. ( 23515596 )
2013
32
Utility of multi-channel surface electromyography in assessment of focal hand dystonia. ( 23861190 )
2013
33
Aristotle's illusion reveals interdigit functional somatosensory alterations in focal hand dystonia. ( 23404333 )
2013
34
Multiple sessions of low-frequency repetitive transcranial magnetic stimulation in focal hand dystonia: clinical and physiological effects. ( 23340117 )
2013
35
Temporal expectation in focal hand dystonia. ( 23361064 )
2013
36
Selective impairment of hand mental rotation in patients with focal hand dystonia. ( 15705607 )
2013
37
Individuated finger control in focal hand dystonia: an fMRI study. ( 22484405 )
2012
38
Differential activation in the primary motor cortex during individual digit movement in focal hand dystonia vs. healthy. ( 22451345 )
2012
39
Aberrant Oscillatory Activity during Simple Movement in Task-Specific Focal Hand Dystonia. ( 23226140 )
2012
40
Focal hand dystonia: lack of evidence for abnormality of motor representation at rest. ( 22205757 )
2012
41
Task specific focal hand dystonia: understanding the enigma and current concepts. ( 22246304 )
2012
42
Diagnosis and management of focal hand dystonia in a rheumatology practice. ( 22273716 )
2012
43
The differential modulation of the ventral premotor-motor interaction during movement initiation is deficient in patients with focal hand dystonia. ( 22288483 )
2012
44
Impairment of the rubber hand illusion in focal hand dystonia. ( 21378099 )
2011
45
Transcranial direct current stimulation for the treatment of focal hand dystonia. ( 21495074 )
2011
46
Long-term follow-up of botulinum toxin therapy for focal hand dystonia: outcome at 10 years or more. ( 21506157 )
2011
47
Abnormal functional connectivity in focal hand dystonia: mutual information analysis in EEG. ( 21506166 )
2011
48
Amplitude and timing of somatosensory cortex activity in task-specific focal hand dystonia. ( 21802357 )
2011
49
Abnormal reorganization of functional cortical small-world networks in focal hand dystonia. ( 22174867 )
2011
50
Psychiatric symptoms associated with focal hand dystonia. ( 20737548 )
2010

Variations for Focal Hand Dystonia

Expression for Focal Hand Dystonia

Search GEO for disease gene expression data for Focal Hand Dystonia.

Pathways for Focal Hand Dystonia

GO Terms for Focal Hand Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 polysome GO:0005844 8.62 FUS VIM

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

# Name GO ID Score Top Affiliating Genes
1 reactive oxygen species metabolic process GO:0072593 8.96 DRD5 PDGFB
2 negative regulation of blood pressure GO:0045776 8.62 DRD5 RNPEP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 CBS FUS PDGFB THAP1 VIM

Sources for Focal Hand 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
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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