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-THAP1


Other Names:
DYT6; Torsion dystonia adult onset mixed type; Dystonia 6; DYT6; Torsion dystonia adult onset mixed type; Dystonia 6; Adolescent-onset dystonia of mixed type See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 98806

Definition
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.

Epidemiology
It has been reported in two Amish-Mennonite families.

Clinical description
Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.

Etiology
DYT6 is caused by mutations in the THAP1 gene (on chromosome 8).

Genetic counseling
DYT6 is transmitted as an autosomal dominant trait.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2009

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
Generalized dystonia 0007325
30%-79% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
5%-29% of people have these symptoms
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] 		0000643
Laryngeal dystonia 0012049
Lingual dystonia 0031008
Myoclonus 0001336
Torticollis
Wry neck
0000473
1%-4% of people have these symptoms
Incomplete penetrance 0003829
Limb dystonia 0002451
Percent of people who have these symptoms is not available through HPO
Abnormality of the head
Abnormal head
Head abnormality
[ more ] 		0000234
Autosomal dominant inheritance 0000006
Dysphonia
Inability to produce voice sounds
0001618
Oromandibular dystonia 0012048
Torsion dystonia 0001304
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.

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

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

  • 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-THAP1. Click on the link to view a sample search on this topic.

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