Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
DYT1; Early onset torsion dystonia; EOTD;
Congenital and Genetic Diseases; Nervous System Diseases
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the voice||
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ]
Difficulty articulating speech
Decreased muscle tone
Low muscle tone
[ more ]
[ more ]
Low or weak muscle tone
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Botulinum toxin type A(Brand name: Botox) Manufactured by Allergan, Inc.
FDA-approved indication: Treatment of cervical
dystoniain adults to decrease the severity of abnormal head position and neck pain associated with cervical dystonia. Treatment of blepharospasm or strabismusassociated with dystonia in adults (patients 12 years of age and above).
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other forms of isolated dystonia such as Dopa-responsive dystonia (due to either GCH1, SPR, TH), Primary dystonia, DYT6 type (THAP1), and Autosomal dominant focal dystonia, DYT25 type (GNAL). Whilst presenting symptoms may be similar, DYT25 is frequently distinguished by adult-onset focal dystonia, whereas individuals with DYT6 dystonia frequently have prominent cranio-cervical and laryngeal involvement.
Visit the Orphanet disease page for more information.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on DYT-TOR1A. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss DYT-TOR1A. Click on the link to view a sample search on this topic.
- Frucht, Steven. Dystonia. National Organization of Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/dystonia/. Accessed 10/31/2016.
- DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1. Online Mendelian Inheritance in Man (OMIM). August 9, 2016; https://www.omim.org/entry/128100. Accessed 10/31/2016.
- Ozelius, Laurie and Lubarr, Naomi.. DYT1 Early-Onset Primary Dystonia. GeneReviews. January 2, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1492/. Accessed 10/31/2016.