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dystonia 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 25

MONDO:0014033

Also known as:GNAL dystonic disorderdystonia type 25dystonic disorder caused by mutation in GNAL

Overview

Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.

GeneticsAutosomal dominant · GNAL (chr 18)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Torticollis, Dysphonia, Limb dystonia, and Laryngeal dystonia and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Dysphonia, Limb dystonia, Laryngeal dystonia
Arms and legs

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GNAL encodes G protein subunit alpha L (381 aa). Guanine nucleotide-binding protein (G protein) involved as transducer in olfactory signal transduction controlled by G protein-coupled receptors (GPCRs). Highest expression in Brain Nucleus accumbens basal ganglia (45.6 TPM) and Brain Caudate basal ganglia (28.9 TPM).

Dystonia 25 is associated with mutations in the GNAL gene on chromosome 18.

The GNAL protein participates in Olfactory Signaling Pathway pathway.

GNAL is classified as a druggable target with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No formal diagnostic criteria have been established for DYT-GNAL.

Suggestive Findings

DYT-GNAL should be considered in individuals with the following clinical findings, neuroimaging findings, and family history.

Clinical Findings

Dystonia is defined as involuntary contractions of muscles that lead to abnormal movements and abnormal postures. Dystonic movements are typically repetitive, patterned, and often twisting. DYT-GNAL is characterized by the following:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for dystonia 25. The disease remains an area of unmet medical need.

Gene therapy approaches for dystonia 25 have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with DYT-GNAL, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Follow up with a neurologist specializing in movement disorders several times a year is recommended to monitor for the following:

Worsening of dystonia
Development of new manifestations
Medication side effects

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for dystonia 25.

192 publications have been identified in PubMed for dystonia 25. Kisho has analyzed 145 by research type. Research spans Review / Meta-Analysis (20%), Clinical Trial Publication (19%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Research summaries	29	20%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615073

Orphanet

European rare disease database

Orphanet:329466

GARD

Genetic and Rare Diseases Info Center

GARD:10667

Questions for Your Care Team

→Should I pursue genetic testing for GNAL, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

See Hereditary Dystonia Overview. Table 2. Autosomal Dominant Disorders to Consider in the Differential Diagnosis of DYT-GNAL

Disorder	Gene	Clinical Features of Disorder Overlapping w/DYT-GNAL	Further Details of Disorder
Age at onset of dystonia	Site of dystonia at onset	Dystonia type	Other DYT-THAP1
THAP1	Craniocervical dystonia /or laryngeal involvement may be presenting feature(s).	Median: 13 yrs (range: 2-49 yrs)1; Median: 13 yrs (range 2-62 yrs)2	—
Mean: 48 yrs (range: 8-69 yrs)3	Cervical laryngeal; upper limb	Craniocervical involvement common	Penetrance of ~60% DYT-TOR1A
TOR1A	Isolated blepharospasm or craniocervical dystonia in some	Mean:14 yrs (range 4-44 yrs)4	—
Early onset, typically childhood; late onset in some	Typically in 1 limb	60% to 70% progress to generalized (or multifocal) dystonia.5; ~20% have focal dystonia, most frequently writer's cramp.	Ashkenazi Jewish ancestry common4; Reduced penetrance of ~30%; More rapid progression; Face neck typically spared DYT-SGCE(See Myoclonus-Dystonia.)
Myoclonic jerks typical of DYT-SGCE have been described in DYT-GNAL.7	1st or 2nd decade	Neck, proximal arm, trunk	Myoclonic jerks of mostly proximal muscles, typically cervical dystonia writer's cramp
Upper-limb dystonia (incl arm tremor)	Early childhood to 6th decade (typically adult onset)	Mostly craniocervical	Segmental/multifocal (craniocervical dystonia, head tremor, upper-limb dystonia, dystonic arm tremor, laryngeal dystonia)

Source: GeneReviews — "DYT-GNAL"

Kisho

dystonia 25

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Heterozygous DYT-GNAL

Explore clinical features

Penetrance

Differential Diagnosis

Neurologic

Other

Dystonia

Clinical Trials

Recent Publications

dystonia 25

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Heterozygous DYT-GNAL

Explore clinical features

Penetrance

Differential Diagnosis

Neurologic

Other

Dystonia

Clinical Trials

Recent Publications