MCID: FCL049
MIFTS: 30

Focal Hand Dystonia

Categories: Muscle diseases, 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 70
Dystonia, Focal, Task-Specific 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050841
ICD9CM 34 333.84
SNOMED-CT 67 52008007
UMLS 70 C0154676 C1969807

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, dopa-responsive, 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 Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and eye, and related phenotype is muscle.

Related Diseases for Focal Hand Dystonia

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 focal dystonia 30.5 TOR1A THAP1 SGCE PANK2 OR4X2 GYPE
2 dystonia, dopa-responsive 30.1 TOR1A THAP1 SGCE
3 dystonia 29.9 VIM TOR1A THAP1 SGCE PVALB PANK2
4 blepharospasm 29.6 TOR1A THAP1 SGCE PANK2 GNAL ANO3
5 dystonia 1, torsion, autosomal dominant 29.6 TOR1A THAP1 SGCE GNAL ANO3
6 cervical dystonia 29.4 TOR1A THAP1 SGCE OR4X2 GNAL ANO3
7 movement disease 29.3 VIM TOR1A THAP1 SGCE PANK2 GYPE
8 hemidystonia 29.2 TOR1A THAP1 SGCE GYPE GNAL ANO3
9 dystonia, focal, task-specific 11.6
10 discrimination, two-point, reduction in 10.4
11 spasmodic dysphonia 10.2 TOR1A THAP1
12 cranio-facial dystonia 10.2 TOR1A THAP1
13 neurodegeneration with brain iron accumulation 1 10.2 TOR1A PANK2
14 hereditary dystonia 10.2 THAP1 ANO3
15 dystonia 27 10.1 GNAL ANO3
16 torticollis 10.1
17 myoclonus 10.1
18 hereditary lymphedema ii 10.1 TOR1A THAP1 SGCE
19 lymphatic malformation 5 10.1 TOR1A THAP1 SGCE
20 dystonia 3, torsion, x-linked 10.1 TOR1A THAP1 SGCE
21 neurodegeneration with brain iron accumulation 10.1 TOR1A THAP1 PANK2
22 jejunoileitis 10.0 TOR1A GDNF
23 dystonia 24 10.0 THAP1 GNAL ANO3
24 basal ganglia disease 10.0 THAP1 GYPE
25 carpal tunnel syndrome 10.0
26 cervical rib 10.0
27 obsessive-compulsive disorder 10.0
28 stroke, ischemic 10.0
29 meningioma, familial 10.0
30 tendinitis 10.0
31 small cell carcinoma 10.0
32 intracranial meningioma 10.0
33 thoracic outlet syndrome 10.0
34 germinoma 10.0
35 secretory meningioma 10.0
36 lymphoplasmacyte-rich meningioma 10.0
37 nerve compression syndrome 10.0
38 neuropathy 10.0
39 myoclonus epilepsy 10.0
40 whiplash 10.0
41 isolated dystonia 9.9 TOR1A THAP1 GNAL ANO3
42 torsion dystonia 2 9.9 TOR1A THAP1 GNAL ANO3
43 torsion dystonia 4 9.9 TOR1A THAP1 GNAL ANO3
44 dystonia 25 9.9 TOR1A THAP1 GNAL ANO3
45 alternating hemiplegia of childhood 9.9 THAP1 SGCE GNAL ANO3
46 articulation disorder 9.8 PVALB GYPE
47 spasmodic dystonia 9.8 TOR1A THAP1 SGCE GNAL ANO3
48 segmental dystonia 9.8 TOR1A THAP1 SGCE GNAL ANO3
49 neuroaxonal dystrophy 9.7 PVALB PANK2
50 tic disorder 9.7 PVALB GYPE

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 muscle MP:0005369 9.1 GDNF PANK2 PVALB SGCE TOR1A VIM

Drugs & Therapeutics for Focal Hand Dystonia

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 3
3 incobotulinumtoxinA Phase 3
4 Cholinergic Agents Phase 3
5
Flumazenil Approved 78755-81-4 3373
6 abobotulinumtoxinA
7 insulin
8 Insulin, Globin Zinc
9 Botulinum Toxins
10 Botulinum Toxins, Type A

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 IncobotulinumtoxinA (Xeomin) to Treat Focal Hand Dystonia: a Double-blind Placebo-controlled Randomized Multicenter Study: The "SwissHandSpasm" Study Recruiting NCT03977493 Phase 3 Xeomin;Placebo - Concentrate
2 Placebo Controlled Study of the Therapeutic Effect of the Transcranial Electrical Polarization in Patients With Focal Hand Dystonia Completed NCT00106782 Phase 2
3 Motor Training as Treatment of Focal Hand Dystonia Completed NCT00021853 Phase 2
4 Effectiveness of rTMS and Retraining in the Treatment of Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
5 Deep Brain Stimulation Surgery for Treatment of Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
6 Multiple Sessions of Low-frequency Repetitive Transcranial Magnetic Stimulation in Focal Hand Dystonia: Clinical and Physiological Effects Completed NCT01884064 Phase 1
7 Tactile Operant Conditioning To Alleviate Focal Hand Dystonia Symptoms Unknown status NCT00579033
8 The Effect of Surround Inhibition During Phasic Compared to Tonic Voluntary Finger Movement in Focal Hand Dystonia Completed NCT00376753
9 Long-Term Motor Learning in Focal Hand Dystonia Completed NCT00325091
10 Impact Of Physiotherapy And Botulinum Toxin Type-A In Improving Functional Outcomes In Upper Limb Focal Dystonia Among Post Stroke Patients Completed NCT03664375
11 Comparison of Electrophysiologic And Ultrasound Guidance For Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia And Spasticity Completed NCT02334683
12 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
13 The Role of Cortical Coherence in Focal Hand Dystonia Completed NCT00137384
14 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
15 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
16 Depotentiation in Focal Hand Dystonia Patients Terminated NCT02106936

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:

40
Cortex, Brain, Eye, Cerebellum

Publications for Focal Hand Dystonia

Articles related to Focal Hand Dystonia:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Dystonia in performing artists: Beyond focal hand dystonia. 61
33685534 2021
2
Anisotropy of the Drawing Plane in Focal Hand Dystonia: A Case Report and a Novel Postulate of Dysfunctional Tensorial Networks. 61
33717734 2021
3
Cortical neurophysiology of primary isolated dystonia and non-dystonic adults: A meta-analysis. 61
32991762 2021
4
Self-reported benefit and weakness after botulinum toxin in dystonia. 61
32927341 2020
5
Neurorehabilitation in dystonia: a holistic perspective. 61
33099684 2020
6
Alterations in dexterity and manual function in patients with focal hand dystonia. 61
32586696 2020
7
Botulinum Toxin Effects on Sensorimotor Integration in Focal Dystonias. 61
32344856 2020
8
Sensitivity and pain in focal dystonia of the hand. 61
32327198 2020
9
Focal limb dystonia and tremor: Clinical update. 61
31965968 2020
10
Botulinum toxin and occupational therapy for Writer's cramp. 61
31351085 2019
11
Deep brain stimulation in post-traumatic dystonia: A case series study. 61
31033189 2019
12
Acute and cumulative effects of rTMS on behavioural and EMG parameters in Focal Hand Dystonia. 61
31799459 2019
13
Assessment of the effects of Kinesiotaping on musical motor performance in musicians suffering from focal hand dystonia: a pilot study. 61
31159569 2019
14
The effect of dopamine for focal hand dystonia after stroke. 61
30635800 2019
15
Safety and long-term efficacy of ventro-oral thalamotomy for focal hand dystonia: A retrospective study of 171 patients. 61
30587520 2019
16
Abnormal sensory gating in patients with different types of focal dystonias. 61
30403835 2018
17
Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel. 61
30264427 2018
18
Impaired white matter integrity between premotor cortex and basal ganglia in writer's cramp. 61
30239158 2018
19
A single case of MRI-guided focused ultrasound ventro-oral thalamotomy for musician's dystonia. 61
30239322 2018
20
Reappraising the role of motor surround inhibition in dystonia. 61
29801882 2018
21
Neuromuscular Re-Education Programs for Musicians with Focal Hand Dystonia: A Systematic Review. 61
29868689 2018
22
Botulinum Toxin A and Task-Specific Training for Hand Dystonia due to 5 Year Old Stroke. 61
29482711 2018
23
Stereotactic Lesioning of the Thalamic Vo Nucleus for the Treatment of Writer's Cramp (Focal Hand Dystonia). 61
30534112 2018
24
Abnormal Blink Reflex and Intermuscular Coherence in Writer's Cramp. 61
30013510 2018
25
Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia. 61
30405710 2018
26
Stereotactic Radiofrequency Lesioning for Movement Disorders. 61
29332077 2018
27
Testing rTMS-Induced Neuroplasticity: A Single Case Study of Focal Hand Dystonia. 61
30002674 2018
28
Loss of inhibition in sensorimotor networks in focal hand dystonia. 61
29062685 2018
29
Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinson's Disease and Focal Hand Dystonia. 61
29316781 2018
30
Surround inhibition can instantly be modulated by changing the attentional focus. 61
29348536 2018
31
Surgical Interventions for Task-specific Dystonia (Writer's Dystonia). 61
28904473 2017
32
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. 61
27647704 2017
33
Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study. 61
28955194 2017
34
A prognostic factor in focal hand dystonia: typist's cramp cases and literature review. 61
27871456 2016
35
Mental rotation and working memory in musicians' dystonia. 61
27693997 2016
36
Objective Evaluation of Performance Stress in Musicians With Focal Hand Dystonia: A Case Series. 61
27715491 2016
37
Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. 61
27721106 2016
38
Differences in active range of motion measurements in the upper extremity of patients with writer's cramp compared with healthy controls. 61
27773588 2016
39
Haptic Feedback Manipulation During Botulinum Toxin Injection Therapy for Focal Hand Dystonia Patients: A Possible New Assistive Strategy. 61
27552765 2016
40
A neuromorphic model of motor overflow in focal hand dystonia due to correlated sensory input. 61
27578228 2016
41
Bilateral Stereotactic Thalamotomy for Bilateral Musician's Hand Dystonia. 61
27188636 2016
42
Non-Invasive Brain Stimulation for Treatment of Focal Hand Dystonia: Update and Future Direction. 61
27240806 2016
43
Stereotactic Thalamotomy for Hairdresser's Dystonia: A Case Series. 61
27434121 2016
44
Predicting Improvement in Writer's Cramp Symptoms following Botulinum Neurotoxin Injection Therapy. 61
27625900 2016
45
An unusual cause of focal hand dystonia due to a retained implant of the distal radius. 61
26746833 2016
46
Effect of Transcranial Direct Current Stimulation on Neurorehabilitation of Task-Specific Dystonia: A Double-Blind, Randomized Clinical Trial. 61
26395620 2015
47
All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia. 61
25039324 2015
48
A practical approach to management of focal hand dystonia. 61
26019409 2015
49
Focal hand dystonia: individualized intervention with repeated application of repetitive transcranial magnetic stimulation. 61
25256555 2015
50
It takes two: noninvasive brain stimulation combined with neurorehabilitation. 61
25813373 2015

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

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

# Name GO ID Score Top Affiliating Genes
1 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.62 TOR1A GDNF

Sources for Focal Hand Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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