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

Dystonia 2, torsion, autosomal recessive


Other Names:
DYT2; Torsion dystonia 2; Torsion dystonia 2, autosomal recessive type; DYT2; Torsion dystonia 2; Torsion dystonia 2, autosomal recessive type; Dystonia musculorum deformans type 2 See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 99657

Definition
Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.

Epidemiology
The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families.

Clinical description
The onset of the symptoms is early in childhood or adolescence. Progression to generalized dystonia is possible.

Genetic counseling
The DYT2 locus is unknown. Autosomal recessive transmission is suggested.

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
Torsion dystonia 0001304
30%-79% of people have these symptoms
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] 		0000643
Difficulty walking
Difficulty in walking
0002355
Dysarthria
Difficulty articulating speech
0001260
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Limb dystonia 0002451
Torticollis
Wry neck
0000473
Tremor 0001337
5%-29% of people have these symptoms
Generalized dystonia 0007325
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Slow progression
Signs and symptoms worsen slowly with time
0003677
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Last updated: 7/1/2020

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

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.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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.

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 Dystonia 2, torsion, autosomal recessive. Click on the link to view a sample search on this topic.

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