DYT-THAP1
Alternate names[edit | edit source]
DYT6; Torsion dystonia adult onset mixed type; Dystonia 6; Adolescent-onset dystonia of mixed type
Definition[edit | edit source]
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Epidemiology[edit | edit source]
It has been reported in two Amish-Mennonite families.
Cause[edit | edit source]
DYT6 is caused by mutations in the THAP1 gene (on chromosome 8).
Inheritance[edit | edit source]
DYT6 is transmitted as an autosomal dominant trait.
Signs and symptoms[edit | edit source]
Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Generalized dystonia
30%-79% of people have these symptoms
- Dysarthria(Difficulty articulating speech)
5%-29% of people have these symptoms
- Blepharospasm(Eyelid spasm)
- Laryngeal dystonia
- Lingual dystonia
- Myoclonus
- Torticollis(Wry neck)
1%-4% of people have these symptoms
- Incomplete penetrance
- Limb dystonia
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
DYT-THAP1 is a rare disease.
| DYT-THAP1 Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
