FTSD
MCID: DYS198
MIFTS: 14

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 57 73
Ftsd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
dystonia, focal, task-specific:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 611284
MedGen 42 C1969807
SNOMED-CT via HPO 69 263681008 52008007
UMLS 73 C1969807

Summaries for Dystonia, Focal, Task-Specific

OMIM : 57 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 Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. 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 11.8
2 focal hand dystonia 11.6
3 dystonia 10.2
4 amyotrophic lateral sclerosis 1 10.2
5 lateral sclerosis 10.2
6 intermittent claudication 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
writer's cramp
focal dystonia, upper limb
musician's cramp


Clinical features from OMIM:

611284

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

32
# Description HPO Frequency HPO Source Accession
1 writer's cramp 32 HP:0002356

Drugs & Therapeutics for Dystonia, Focal, Task-Specific

Drugs for Dystonia, Focal, Task-Specific (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 2,Phase 1,Not Applicable 51-84-3 187
2 Acetylcholine Release Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
3 onabotulinumtoxinA Phase 3,Not Applicable
4 Cholinergic Agents Phase 3,Phase 2,Phase 1,Not Applicable
5 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,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 2,Phase 1,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 Deep Brain Stimulation Surgery for Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
5 Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Recruiting NCT02107261 Phase 2 incobotulinumtoxin A
6 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2
7 Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp Completed NCT02015039 Phase 1, Phase 2 BoNT Injections
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 Effect of Increasing Motor Cortex Inhibition on Task Specific Dystonia Recruiting NCT01823237 Not Applicable
13 Depotentiation in People With Focal Hand Dystonia Terminated NCT02106936
14 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
15 Brain Changes in Patients With Focal Hand Dystonia Completed NCT00306865
16 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
17 Transcranial Magnetic Stimulation for Focal Hand Dystonia Suspended NCT01792336
18 Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients Completed NCT03664375 Not Applicable
19 Movement-Related Brain Networks Involved in Hand Dystonia Completed NCT00137384
20 Brain Networks in Dystonia Enrolling by invitation NCT03042962
21 Pathophysiology of Dystonia and Complex Regional Pain Syndrome Recruiting NCT03223623
22 Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia Recruiting NCT02334683 Not Applicable
23 Brain Anatomy in Dystonia Terminated NCT00031369
24 EEG and EMG Studies of Hand Dystonia Completed NCT00025701
25 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
26 Validation of the Zigzag Tracking Task Test for the Evaluation of Handwriting Difficulties in Writer's Cramp Recruiting NCT02882295
27 Sensory Training to Treat Focal Dystonia Completed NCT00006336
28 Validating a New Writer s Cramp Scale Completed NCT01579266
29 Association Between Focal Dystonia and Complex Regional Pain Syndrome Completed NCT00595439

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

Genetic Tests for Dystonia, Focal, Task-Specific

Anatomical Context for Dystonia, Focal, Task-Specific

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 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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