Primary dystonia, DYT21 type

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ORPHA:306734OMIM:614588G24.1
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Overview

Primary dystonia, DYT21 type, is a rare inherited movement disorder that causes muscles to contract involuntarily, leading to abnormal postures and repetitive twisting movements. This form of dystonia typically begins in one part of the body and may gradually spread to involve multiple body regions over time. The condition was first identified in a large Swedish family and is sometimes referred to as DYT21 dystonia. Dystonia in DYT21 often starts in the neck, face, or an arm or leg, and can progress to become more generalized, affecting the trunk and multiple limbs. Symptoms may include involuntary turning or tilting of the head (torticollis), difficulty speaking due to involvement of the muscles around the mouth and jaw, writer's cramp, and abnormal postures of the limbs. The severity can vary widely, even among members of the same family. There is currently no cure for DYT21 dystonia. Treatment focuses on managing symptoms and improving quality of life. Options include oral medications such as anticholinergics (like trihexyphenidyl), muscle relaxants, and benzodiazepines. Botulinum toxin injections are commonly used to relax specific overactive muscles. In more severe cases, deep brain stimulation (DBS) surgery may be considered. Physical therapy and occupational therapy also play important roles in maintaining function and comfort.

Also known as:

Key symptoms:

Involuntary muscle contractions causing abnormal posturesTwisting or repetitive movementsNeck turning or tilting to one side (torticollis)Difficulty with handwriting or writer's crampAbnormal postures of the arms or legsDifficulty speaking or slurred speechJaw clenching or involuntary mouth movementsMuscle stiffness or tightnessTremor in affected body partsSymptoms that may spread from one body part to others over timePain in muscles affected by dystoniaDifficulty walking due to leg or trunk involvement

Clinical phenotype terms (9)— hover any for plain English
Paroxysmal dystoniaHP:0002268Focal dystoniaHP:0004373Generalized dystoniaHP:0007325Axial dystoniaHP:0002530Laryngeal dystoniaHP:0012049
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Primary dystonia, DYT21 type.

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No actively recruiting trials found for Primary dystonia, DYT21 type at this time.

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No specialists are currently listed for Primary dystonia, DYT21 type.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Primary dystonia, DYT21 type.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What type of dystonia do I have, and how certain is the diagnosis?,Should I or my family members have genetic testing?,What treatment options are best for my specific symptoms?,Am I a candidate for botulinum toxin injections or deep brain stimulation?,How likely is it that my dystonia will spread to other parts of my body?,What physical therapy or rehabilitation services would help me?,Are there clinical trials or research studies I could participate in?

Common questions about Primary dystonia, DYT21 type

What is Primary dystonia, DYT21 type?

Primary dystonia, DYT21 type, is a rare inherited movement disorder that causes muscles to contract involuntarily, leading to abnormal postures and repetitive twisting movements. This form of dystonia typically begins in one part of the body and may gradually spread to involve multiple body regions over time. The condition was first identified in a large Swedish family and is sometimes referred to as DYT21 dystonia. Dystonia in DYT21 often starts in the neck, face, or an arm or leg, and can progress to become more generalized, affecting the trunk and multiple limbs. Symptoms may include invol

How is Primary dystonia, DYT21 type inherited?

Primary dystonia, DYT21 type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.