Focal dystonia

Summary

Focal dystonia (MONDO:0000477) is a disease (an umbrella term covering 12 Mondo subtypes) and 30 clinical trials. Top therapeutic interventions include onabotulinumtoxina and zolpidem. A subtype of dystonic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 12 Mondo subtypes
• Clinical trials: 30

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	focal dystonia
Mondo ID	MONDO:0000477
DOID	DOID:0050836
SNOMED CT	445006008
UMLS	C0743332
MedGen	149279
GARD	0027526
Is cancer (heuristic)	no

Disease family

This is a subtype of dystonic disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › focal dystonia

Related subtypes (7): multifocal dystonia, segmental dystonia, hemidystonia-hemiatrophy syndrome, nocturnal paroxysmal dystonia, inherited dystonia, idiopathic torsion dystonia, torsion dystonia

Subtypes (12): anismus, cervical dystonia, focal hand dystonia, oculogyric crisis, spasmodic dystonia, craniofacial dystonia, X-linked dystonia-parkinsonism, torsion dystonia 7, benign essential blepharospasm, dystonia 23, oromandibular dystonia, dystonia, focal, task-specific

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 30.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	20
PHASE2	4
PHASE1/PHASE2	3
PHASE1	2
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00208091	PHASE4	COMPLETED	Quantifying Musical Performance After Treatment With Myobloc in Musician’s Dystonia
NCT02911103	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Deep Brain Stimulation Surgery for Focal Hand Dystonia
NCT00015457	PHASE2	COMPLETED	Amlodipine Plus Botulinum Toxin for Focal Dystonia
NCT00021853	PHASE2	COMPLETED	Motor Training to Treat Hand Dystonia
NCT00411255	PHASE2	COMPLETED	Brain Stimulation to Treat Blepharospasm or Meige Syndrome
NCT00942851	PHASE1/PHASE2	COMPLETED	A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm
NCT01738581	PHASE1/PHASE2	COMPLETED	rTMS and Retraining in Focal Hand Dystonia
NCT01750346	PHASE2	TERMINATED	Acetyl Hexapeptide-8 for Blepharospasm
NCT00505323	PHASE1	COMPLETED	Motor and Premotor Cortex Stimulation for Treatment of Secondary Focal Dystonia With Striato Palliadal Lesion : Evaluation of Safety and Effectiveness
NCT04692285	PHASE1	COMPLETED	Electrophysiological and Neuroimaging Correlates of the Effect of Zolpidem in Patients With Focal Dystonia
NCT05095740	Not specified	RECRUITING	Effects of Neuromodulation in Laryngeal Dystonia
NCT00025701	Not specified	COMPLETED	EEG and EMG Studies of Hand Dystonia
NCT00054652	Not specified	COMPLETED	Survey of Sensory and Motor Tricks in Focal Dystonia
NCT00118586	Not specified	COMPLETED	Neuropathology of Spasmodic Dysphonia
NCT00137384	Not specified	COMPLETED	Movement-Related Brain Networks Involved in Hand Dystonia
NCT00306865	Not specified	COMPLETED	Brain Changes in Patients With Focal Hand Dystonia
NCT00309010	Not specified	COMPLETED	Neurophysiology of Task-Specificity of Focal Hand Dystonia
NCT00310414	Not specified	COMPLETED	fMRI Studies of Task Specificity in Focal Hand Dystonia
NCT00487383	Not specified	TERMINATED	Brain Changes in Blepharospasm
NCT00595439	Not specified	COMPLETED	Association Between Focal Dystonia and Complex Regional Pain Syndrome
NCT00713414	Not specified	COMPLETED	Role of Neurotransmission and Functional CNS Networks in Spasmodic Dysphonia
NCT01105845	Not specified	TERMINATED	Genetics of Motor Learning
NCT01373840	Not specified	COMPLETED	Role of Dopamine Receptors in Primary Focal Dystonias
NCT02106936	Not specified	TERMINATED	Depotentiation in People With Focal Hand Dystonia
NCT02334683	Not specified	COMPLETED	Compare Two Guidance Techniques for Botulinum Toxin Injections for the Treatment of Limb Spasticity and Focal Dystonia
NCT02689466	Not specified	COMPLETED	Cholinergic Receptor Imaging in Dystonia
NCT03041714	Not specified	COMPLETED	Neurophysiologic Study of Patient With Essential Tremor and Dystonic Tremor
NCT03206112	Not specified	TERMINATED	Loss of Depotentiation in Focal Dystonia
NCT03471923	Not specified	COMPLETED	Non-Motor Features of Cervical Dystonia (CD)
NCT03797638	Not specified	COMPLETED	Characterization of Manual Dexterity by Finger Force Manipuladum (FFM) in Patients With Writer’s Cramp and in Control Subjects

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ONABOTULINUMTOXINA	4	1
ZOLPIDEM	4	1