FTSD
MCID: DYS198
MIFTS: 21

Dystonia, Focal, Task-Specific (FTSD)

Aliases & Classifications for Dystonia, Focal, Task-Specific

MalaCards integrated aliases for Dystonia, Focal, Task-Specific:

Name: Dystonia, Focal, Task-Specific 58 74
Ftsd 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in third or fourth decade
may be progressive
may be triggered by increased practice


HPO:

33
dystonia, focal, task-specific:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 611284
MedGen 43 C1969807
SNOMED-CT via HPO 70 263681008 52008007
UMLS 74 C1969807

Summaries for Dystonia, Focal, Task-Specific

OMIM : 58 Focal dystonia, the most common form of dystonia, is often task-specific and referred to as FTSD. Specific learned motor tasks, such as writing or playing a musical instrument, can trigger muscle spasms and interfere with performance while other actions are unaffected. FTSD has a frequency of 1 in 3,400 in the general population but increases to 1 in 200 among musicians (Pullman and Hristova, 2005). (611284)

MalaCards based summary : Dystonia, Focal, Task-Specific, also known as ftsd, is related to focal dystonia and focal hand dystonia. The drugs Acetylcholine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotype is writer's cramp.

Related Diseases for Dystonia, Focal, Task-Specific

Diseases related to Dystonia, Focal, Task-Specific via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal dystonia 11.9
2 focal hand dystonia 11.6
3 dystonia 10.2
4 amyotrophic lateral sclerosis 1 10.2
5 intermittent claudication 10.2
6 lateral sclerosis 10.2
7 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 10.2

Graphical network of the top 20 diseases related to Dystonia, Focal, Task-Specific:



Diseases related to Dystonia, Focal, Task-Specific

Symptoms & Phenotypes for Dystonia, Focal, Task-Specific

Human phenotypes related to Dystonia, Focal, Task-Specific:

33
# Description HPO Frequency HPO Source Accession
1 writer's cramp 33 HP:0002356

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
writer's cramp
focal dystonia, upper limb
musician's cramp

Clinical features from OMIM:

611284

Drugs & Therapeutics for Dystonia, Focal, Task-Specific

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 51-84-3 187
2 Peripheral Nervous System Agents Phase 3,Phase 2,Not Applicable
3 abobotulinumtoxinA Phase 3,Not Applicable
4 Botulinum Toxins Phase 3,Phase 1,Phase 2,Not Applicable
5 Neuromuscular Agents Phase 3,Phase 2,Not Applicable
6 Acetylcholine Release Inhibitors Phase 3,Phase 1,Phase 2,Not Applicable
7 Cholinergic Agents Phase 3,Phase 1,Phase 2,Not Applicable
8 Neurotransmitter Agents Phase 3,Phase 1,Phase 2,Not Applicable
9 Botulinum Toxins, Type A Phase 3,Not Applicable
10 incobotulinumtoxinA Phase 2,Not Applicable
11
Flumazenil Approved 78755-81-4 3373
12 insulin Not Applicable
13 Insulin, Globin Zinc 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 Depotentiation in People With Focal Hand Dystonia Terminated NCT02106936
28 Transcranial Magnetic Stimulation for Focal Hand Dystonia Terminated NCT01792336
29 Brain Anatomy in Dystonia Terminated NCT00031369

Search NIH Clinical Center for Dystonia, Focal, Task-Specific

Genetic Tests for Dystonia, Focal, Task-Specific

Anatomical Context for Dystonia, Focal, Task-Specific

MalaCards organs/tissues related to Dystonia, Focal, Task-Specific:

42
Brain, Testes, Cortex

Publications for Dystonia, Focal, Task-Specific

Articles related to Dystonia, Focal, Task-Specific:

# Title Authors Year
1
Phosphorylation of Threonine 175 Tau in the Induction of Tau Pathology in Amyotrophic Lateral Sclerosis-Frontotemporal Spectrum Disorder (ALS-FTSD). A Review. ( 29731706 )
2018
2
Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. ( 28054827 )
2017

Variations for Dystonia, Focal, Task-Specific

Expression for Dystonia, Focal, Task-Specific

Search GEO for disease gene expression data for Dystonia, Focal, Task-Specific.

Pathways for Dystonia, Focal, Task-Specific

GO Terms for Dystonia, Focal, Task-Specific

Sources for Dystonia, Focal, Task-Specific

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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