FTSD
MCID: DYS198
MIFTS: 32

Dystonia, Focal, Task-Specific (FTSD)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia, Focal, Task-Specific

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

Name: Dystonia, Focal, Task-Specific 56 71
Ftsd 56 52 25
Focal, Segmental or Multifocal Dystonia 52 58
Focal Task-Specific Dystonia 52 25
Task-Specific Focal Dystonia 52 25
Task-Specific Dystonia 52 25
Focal Task Specific Dystonia 52
Occupational Dystonia 25
Focal Hand Dystonia 25
Occupational Cramp 25
Focal Dystonia 52

Characteristics:

Orphanet epidemiological data:

58
focal, segmental or multifocal dystonia
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
dystonia, focal, task-specific:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 611284
ICD10 via Orphanet 33 G24.3 G24.4 G24.5 more
Orphanet 58 ORPHA1866
MedGen 41 C1969807
SNOMED-CT via HPO 68 263681008 52008007
UMLS 71 C1969807

Summaries for Dystonia, Focal, Task-Specific

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. Researchers have described several forms of task-specific focal dystonia. The most common is writer's cramp, in which muscle cramps or spasms in the hand, wrist, or forearm interfere with holding a pen or pencil. Writer's cramp begins in the hand used for writing (the dominant hand) and is usually limited to that task, but with time it can spread to the other hand and affect other fine-motor activities such as shaving or typing. Musician's dystonia is a form of task-specific focal dystonia characterized by muscle cramps and spasms that occur while playing a musical instrument. This condition can affect amateur or professional musicians, and the location of the dystonia depends on the instrument. Some musicians (such as piano, guitar, and violin players) develop focal hand dystonia, which causes loss of fine-motor control in the hand and wrist muscles. This condition reduces finger coordination, speed, and endurance while playing. Musicians who play woodwind or brass instruments can develop what is known as embouchure dystonia. This condition causes muscle cramps or spasms involving the lips, tongue, or jaw, which prevents normal positioning of the mouth around the instrument's mouthpiece. Musician's dystonia often occurs only when playing a particular instrument. However, over time focal hand dystonia may impair other activities, and embouchure dystonia can worsen to affect eating and speech. Task-specific focal dystonia can affect people who play sports and engage in other occupations involving repetitive, highly practiced movements. For example, some golfers experience involuntary jerking of the wrists during putting, a condition known informally as "the yips." Cramps and spasms of the hand and arm muscles can also affect tennis players, billiards players, dart throwers, and other athletes. Additionally, task-specific dystonia has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. The abnormal movements associated with task-specific focal dystonia are usually painless, although they can cause anxiety when they interfere with musical performance and other activities. Severe cases can cause professional disability.

MalaCards based summary : Dystonia, Focal, Task-Specific, also known as ftsd, is related to dystonia 25 and cervical dystonia. The drugs Propranolol and incobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and cortex, and related phenotype is writer's cramp.

NIH Rare Diseases : 52 Focal task-specific dystonia (FTSD) 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. 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.

OMIM : 56 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)

Related Diseases for Dystonia, Focal, Task-Specific

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

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 dystonia 25 12.1
2 cervical dystonia 11.8
3 focal dystonia 11.8
4 focal hand dystonia 11.8
5 oromandibular dystonia 11.7
6 blepharospasm, benign essential 11.7
7 blepharospasm 11.6
8 dystonia 3, torsion, x-linked 11.6
9 spasmodic dystonia 11.5
10 dystonia 1, torsion, autosomal dominant 11.5
11 dystonia 7, torsion 11.5
12 mohr-tranebjaerg syndrome 11.5
13 dystonia 23 11.5
14 partington x-linked mental retardation syndrome 11.5
15 dystonia 24 11.5
16 dyt-gnal 11.3
17 spinocerebellar ataxia 14 11.2
18 spastic paraplegia 35, autosomal recessive 11.2
19 anismus 11.2
20 oculogyric crisis 11.2
21 cranio-facial dystonia 11.2
22 torticollis 10.6
23 spasmodic dysphonia 10.5
24 hemifacial spasm, familial 10.5
25 hemifacial spasm 10.5
26 amyotrophic lateral sclerosis 1 10.4
27 frontotemporal dementia 10.4
28 lateral sclerosis 10.4
29 segmental dystonia 10.2
30 movement disease 10.2
31 dystonia 10.2
32 dementia pugilistica 10.2
33 ataxia and polyneuropathy, adult-onset 10.2
34 spasticity 10.2
35 48,xyyy 10.1
36 obsessive-compulsive disorder 10.1
37 dysphagia 10.1
38 tremor 10.1
39 anxiety 10.0
40 autosomal dominant cerebellar ataxia 10.0
41 tic disorder 10.0
42 discrimination, two-point, reduction in 10.0
43 huntington disease 10.0
44 dystonia 13, torsion, autosomal dominant 10.0
45 chorea, childhood-onset, with psychomotor retardation 10.0
46 apraxia 10.0
47 scoliosis 10.0
48 ptosis 10.0
49 siderosis 10.0
50 choreatic disease 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

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

31
# Description HPO Frequency HPO Source Accession
1 writer's cramp 31 HP:0002356

Symptoms via clinical synopsis from OMIM:

56
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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 4 525-66-6 4946
2 incobotulinumtoxinA Phase 4
3 rimabotulinumtoxinB Phase 4
4 Adrenergic beta-Antagonists Phase 4
5 Antihypertensive Agents Phase 4
6 Adrenergic Antagonists Phase 4
7 Adrenergic Agents Phase 4
8 Vasodilator Agents Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 abobotulinumtoxinA Phase 3
11 Botulinum Toxins, Type A Phase 3
12 Pharmaceutical Solutions Phase 3
13
Amlodipine Approved Phase 2 88150-42-9 2162
14
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
15 Hormones Phase 2
16 Calcium, Dietary Phase 2
17 calcium channel blockers Phase 2
18 Sodium Channel Blockers Phase 2
19 Diuretics, Potassium Sparing Phase 2
20
Calcium Nutraceutical Phase 2 7440-70-2 271
21
Flumazenil Approved 78755-81-4 3373
22
Dopamine Approved 51-61-6, 62-31-7 681
23
Baclofen Approved 1134-47-0 2284
24 Mung bean Approved
25
Acetylcholine Approved, Investigational 51-84-3 187
26 Insulin, Globin Zinc
27 insulin
28 GABA Agonists
29 Botulinum Toxins
30 Cholinergic Agents
31 Neurotransmitter Agents

Interventional clinical trials:

(show top 50) (show all 79)
# Name Status NCT ID Phase Drugs
1 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
3 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
4 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Completed NCT02326818 Phase 3
5 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
6 Use of Botulinum Toxin (BTX) for the Treatment of Peripheral Painful Traumatic Trigeminal Neuropathy (PPTTN) Recruiting NCT03555916 Phase 3 BOTOX®, Allergan;Placebo
7 Placebo Controlled Study of the Therapeutic Effect of the Transcranial Electrical Polarization in Patients With Focal Hand Dystonia Completed NCT00106782 Phase 2
8 Effectiveness of rTMS and Retraining in the Treatment of Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2
9 Motor Training as Treatment of Focal Hand Dystonia Completed NCT00021853 Phase 2
10 Trial of Amlodipine Combined With Botulinum Toxin Injections for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
11 Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp Completed NCT02015039 Phase 1, Phase 2 BoNT Injections
12 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
13 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
14 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2
15 An Open-label Phase 2a Study to Evaluate the Safety and Tolerability of Perampanel (E2007) in Subjects With Cervical Dystonia (SAFE-Per CD) Completed NCT02131467 Phase 1, Phase 2 Perampanel
16 A Placebo-Controlled, Double-Blind, Randomized, Cross Over Pilot Study Of The Efficacy And Tolerability Of Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician's Hand Recruiting NCT02107261 Phase 2 incobotulinumtoxin A
17 Deep Brain Stimulation Surgery for Treatment of Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
18 Placebo Controlled Double Blind Study of Acetyl Hexapeptide-8 in Treatment of Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
19 Multiple Sessions of Low-frequency Repetitive Transcranial Magnetic Stimulation in Focal Hand Dystonia: Clinical and Physiological Effects Completed NCT01884064 Phase 1
20 Motor and Premotor Cortex Stimulation for Treatment of Secondary Focal Dystonia With Striato Pallidal Lesion : Evaluation of Safety and Effectiveness Completed NCT00505323 Phase 1
21 Tactile Operant Conditioning To Alleviate Focal Hand Dystonia Symptoms Unknown status NCT00579033
22 The Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm- a Pilot Study. Unknown status NCT01759745
23 Corticomotor Plasticity as a Biomarker for Functional Improvement After Botulinium Treatment in Writer's Cramp Unknown status NCT03085745
24 fMRI Studies of Task Specificity in Focal Hand Dystonia Completed NCT00310414
25 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010
26 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
27 EEG Study of Movement-Related Center-Surround Organization in Hand Dystonia Completed NCT00025701
28 Impact Of Physiotherapy And Botulinum Toxin Type-A In Improving Functional Outcomes In Upper Limb Focal Dystonia Among Post Stroke Patients Completed NCT03664375
29 Long-Term Motor Learning in Focal Hand Dystonia Completed NCT00325091
30 The Role of Cortical Coherence in Focal Hand Dystonia Completed NCT00137384
31 The Effect of Peripheral Heterotopic Stimulation on Cortical Excitability in Dystonia Completed NCT00050024
32 The Association Between Focal Dystonia (FD) and Complex Regional Pain Syndrome (CRPS) Completed NCT00595439
33 Sensory Training for Treatment of Focal Dystonia Completed NCT00006336
34 Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia and Other Focal Dystonias Completed NCT00713414
35 Survey of Sensory and Motor Tricks in Focal Dystonia Completed NCT00054652
36 The Effect of Surround Inhibition During Phasic Compared to Tonic Voluntary Finger Movement in Focal Hand Dystonia Completed NCT00376753
37 Movement Disorder Survey in East China Completed NCT01168388
38 Characterization of Manual Dexterity by Finger Force Manipuladum (FFM) in Patients With Writer's Cramp and in Control Subjects Completed NCT03797638
39 Repetitive Transcranial Magnetic Stimulation in Spasmodic Dysphonia Completed NCT02957942
40 Neurophysiological Studies of Focal and Generalized Forms of Dystonia Using Transcranial Magnetic Stimulation (TMS) Completed NCT00017875
41 Role of Dopamine Receptors in Primary Focal Dystonias Completed NCT01373840
42 Validating a New Writer's Cramp Scale Completed NCT01579266
43 Functional Connectivity of the Basal Ganglia in Primary Focal Dystonia Completed NCT01761903
44 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
45 The Study of Surround Inhibition in Patients With Dystonia Completed NCT00029601
46 Combined Effects of rTMS and Botulinum Toxin in Benign Essential Blepharospasm: A Novel Approach Completed NCT02370875
47 Computer Modelling of the Cervical Spine Movements in Cervical Dystonia Completed NCT02894359
48 Brain Connectivity and Sensorimotor Integration During Dual/Single Motor Tasks Completed NCT00498329
49 The Physiology of Tricks Completed NCT00072956
50 Comparative Study Between the Functional Outcomes of Neuromodulation and Neuroablation Techniques for Treatment of Secondary Dystonia Completed NCT03347240

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:

40
Brain, Tongue, Cortex, Cerebellum, Testes

Publications for Dystonia, Focal, Task-Specific

Articles related to Dystonia, Focal, Task-Specific:

(show all 20)
# Title Authors PMID Year
1
Etiology of musician's dystonia: familial or environmental? 61 56
19349605 2009
2
Dominantly transmitted focal dystonia in families of patients with musician's cramp. 56 61
16924027 2006
3
Musician's dystonia. 56
15668411 2005
4
The impact of cognitive and behavioral impairment in amyotrophic lateral sclerosis. 61
32031423 2020
5
Neuromuscular incoordination in musician's dystonia. 61
31130362 2019
6
Aberrant cortical excitability reflects the loss of hand dexterity in musician's dystonia. 61
29577305 2018
7
Full recovery from drummer's dystonia with foot and arm symptoms after stereotactic ventro-oral thalamotomy: a case report. 61
29423776 2018
8
Phosphorylation of Threonine 175 Tau in the Induction of Tau Pathology in Amyotrophic Lateral Sclerosis-Frontotemporal Spectrum Disorder (ALS-FTSD). A Review. 61
29731706 2018
9
Focal task specific dystonia: a review and update. 61
28039522 2017
10
Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. 61
28054827 2017
11
The curse of motor expertise: Use-dependent focal dystonia as a manifestation of maladaptive changes in body representation. 61
26689332 2016
12
Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14. 61
24030789 2014
13
Focal Task-specific Dystonia-From Early Descriptions to a New, Modern Formulation. 61
24757587 2014
14
A novel iron transporter in Streptococcus iniae. 61
24102320 2013
15
Table tennis dystonia. 61
20108363 2010
16
Embouchure dystonia--Portrait of a task-specific cranial dystonia. 61
19562760 2009
17
Defective inhibition and inter-regional phase synchronization in pianists with musician's dystonia: an EEG study. 61
19117335 2009
18
Focal task-specific dystonia of the musicians' hand--a practical approach for the clinician. 61
19272752 2009
19
Is focal task-specific dystonia limited to the hand and face? 61
17571347 2007
20
Process of cellular division in Escherichia coli: physiological study on thermosensitive mutants defective in cell division. 61
4583216 1973

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

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43 MeSH
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48 NCI
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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