Adult-onset cervical dystonia, DYT23 type

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ORPHA:420492OMIM:614860G24.8
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Overview

Adult-onset cervical dystonia, DYT23 type (also sometimes called DYT23 dystonia) is a rare inherited movement disorder that causes the muscles in the neck to contract involuntarily and repeatedly. These uncontrolled muscle contractions force the head and neck into abnormal, often painful positions. The condition belongs to a broader group of movement disorders called dystonias, and specifically affects the cervical (neck) region. It is caused by a change (mutation) in the CIZ1 gene. Most people with DYT23 first notice symptoms in adulthood, typically in middle age. The neck may twist, tilt, or turn to one side without the person being able to control it. This can cause significant pain, muscle stiffness, and difficulty holding the head in a normal position. Some people also experience tremor of the head or neck. The severity can vary quite a bit from person to person, even within the same family. There is currently no cure for DYT23 cervical dystonia. Treatment focuses on relieving symptoms and improving quality of life. The most effective and widely used treatment is injections of botulinum toxin (such as Botox or Dysport) into the affected neck muscles, which temporarily relaxes them. Oral medications, physical therapy, and in some cases deep brain stimulation (DBS) surgery may also help. With proper management, many people are able to maintain a reasonable quality of life, though ongoing treatment is usually needed.

Also known as:

Key symptoms:

Involuntary twisting or turning of the neck to one sideAbnormal head posture that is hard to controlNeck pain and muscle stiffnessHead tremor (shaking of the head)Muscle spasms in the neckDifficulty holding the head uprightWorsening of symptoms with stress or fatigueTemporary relief when touching the chin or face (called a 'sensory trick')Shoulder elevation on one sideReduced range of motion in the neck

Clinical phenotype terms (17)— hover any for plain English
Head tremorHP:0002346Writer's crampHP:0002356Axial dystoniaHP:0002530Focal dystoniaHP:0004373Craniofacial dystoniaHP:0012179Neck muscle hypertrophyHP:0012893Limb tremorHP:0200085HyperventilationHP:0002883Supraventricular arrhythmiaHP:0005115Panic attackHP:0025269
Inheritance

Autosomal dominant

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

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Adult-onset cervical dystonia, DYT23 type.

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No actively recruiting trials found for Adult-onset cervical dystonia, DYT23 type at this time.

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No specialists are currently listed for Adult-onset cervical dystonia, DYT23 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 Adult-onset cervical dystonia, DYT23 type.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is genetic testing available to confirm the DYT23 diagnosis, and should my family members be tested?,Am I a good candidate for botulinum toxin injections, and which brand or formulation would you recommend for me?,What oral medications might help alongside injections, and what are the side effects?,Should I see a physical therapist, and what type of exercises are safe for my neck?,What signs should prompt me to seek urgent care or contact you between appointments?,Is deep brain stimulation something I should consider if injections stop working?,Are there any clinical trials or research studies I could participate in?

Common questions about Adult-onset cervical dystonia, DYT23 type

What is Adult-onset cervical dystonia, DYT23 type?

Adult-onset cervical dystonia, DYT23 type (also sometimes called DYT23 dystonia) is a rare inherited movement disorder that causes the muscles in the neck to contract involuntarily and repeatedly. These uncontrolled muscle contractions force the head and neck into abnormal, often painful positions. The condition belongs to a broader group of movement disorders called dystonias, and specifically affects the cervical (neck) region. It is caused by a change (mutation) in the CIZ1 gene. Most people with DYT23 first notice symptoms in adulthood, typically in middle age. The neck may twist, tilt, o

How is Adult-onset cervical dystonia, DYT23 type inherited?

Adult-onset cervical dystonia, DYT23 type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Adult-onset cervical dystonia, DYT23 type typically begin?

Typical onset of Adult-onset cervical dystonia, DYT23 type is adult. Age of onset can vary across affected individuals.