National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

DYT-TOR1A


Other Names:
DYT1; Early onset torsion dystonia; EOTD; DYT1; Early onset torsion dystonia; EOTD; Dystonia musculorum deformans 1; Early-onset primary dystonia; Oppenheim's dystonia; Idiopathic dystonia DYT1; Idiopathic torsion dystonia; Dystonia 1, torsion, autosomal dominant; DYT-TOR1A dystonia; Dystonia 1; DYT1 Early-Onset Isolated Dystonia; Early-Onset Torsion Dystonia; Early-onset generalized dystonia See More
Categories:
Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia.[1] Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. With time, the contractions may spread to other parts of the body, causing the muscles to twist the body into unnatural positions.[1][2][3] Symptoms can vary greatly, even among members of the same family. For some, the disorder can cause significant disability, while others may experiences only isolated writer’s cramp.[1][3] A small deletion in the DYT1 gene is the major cause of early-onset dystonia.[2][3] The genetic change responsible for early onset generalized dystonia is inherited in an autosomal dominant manner, though not everyone who inherits the genetic change will develop the condition. It is thought that only 30% of individuals who inherit the mutation will develop DYT1 dystonia. This is known as reduced penetrance .[2][3] Treatments include oral medications such as trihexyphenidyl, baclofen, and clonazepam. Botulinum toxin injections may be used in conjunction with oral medications when symptoms are focused in a certain area. In some cases, deep brain stimulation may be indicated.[3]

Last updated: 10/31/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hypertonia 0001276
30%-79% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
1%-4% of people have these symptoms
Incomplete penetrance 0003829
Percent of people who have these symptoms is not available through HPO
Abnormal posturing 0002533
Autosomal dominant inheritance 0000006
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] 		0000643
Depressivity
Depression
0000716
Dysarthria
Difficulty articulating speech
0001260
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hyperlordosis
Prominent swayback
0003307
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Muscular hypotonia
Low or weak muscle tone
0001252
Scoliosis 0002650
Torsion dystonia 0001304
Torticollis
Wry neck
0000473
Tremor 0001337
Writer's cramp 0002356
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Last updated: 7/1/2020

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.

Testing Resources

  • 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.

FDA-Approved Treatments

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 dystonia in adults to decrease the severity of abnormal head position and neck pain associated with cervical dystonia. Treatment of blepharospasm or strabismus associated with dystonia in adults (patients 12 years of age and above).
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

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.

Where to Start

In-Depth Information

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Frucht, Steven. Dystonia. National Organization of Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/dystonia/. Accessed 10/31/2016.
  2. DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1. Online Mendelian Inheritance in Man (OMIM). August 9, 2016; http://www.omim.org/entry/128100. Accessed 10/31/2016.
  3. 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.