Research on Dystonia and Movement Disorders

 

What Is Dystonia?

Dystonia is a rare neurological movement disorder caused by dysfunction in the basal ganglia, deep structures within the brain. It leads to involuntary muscle contractions, which may result in abnormal postures, repetitive movements, and tremors. While considered rare, dystonia is likely underdiagnosed.

Types of Dystonia:

Focal Dystonia – Affects a single body region. 

• Most common: Cervical dystonia (neck muscles; causes head turning, tremor, pain).
• Task-specific dystonia (e.g., writer’s cramp, musician’s dystonia).
• Other types:
  • Blepharospasm (eyelid spasms)
  • Oromandibular dystonia (mouth/jaw area)
  • Laryngeal dystonia (voice, also called spasmodic dysphonia)
  • Appendicular dystonia (arms or legs)
  • Segmental and Generalized Dystonia – Affect multiple body parts and are often more disabling.

Causes of Dystonia:

Often genetic in origin, though some cases are secondary to stroke, brain injury, or exposure to certain medications (e.g., neuroleptics).

Routine imaging usually appears normal, making diagnosis challenging.

Diagnosis is clinical and should be made by neurologists specialized in movement disorders.

🧬 Genetic testing for dystonia is available in specialized centers like CHU Liège.

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The FocalDys Study:

Improving Diagnosis of Focal Dystonia

The FocalDys clinical study compares three advanced diagnostic tools for focal dystonia:

• Genetic analysis (via the MDWGS platform)
• 7 Tesla brain MRI – ultra-high-field imaging
• Transcranial ultrasound – non-invasive brain imaging technique

Objectives:

• Identify the most effective diagnostic approach
• Improve clinical workflows
• Guide patients to targeted treatments such as:
  • Botulinum toxin injections
  • Deep brain stimulation (DBS)

This study is led by Dr. David Aktan (PhD candidate) under the supervision of:

Prof. Frédérique Depierreux (CHU Liège)

Prof. Félix Scholtes (Neurosurgery, CHU Liège)

Prof. Pierre Maquet (CHU Liège)

In collaboration with the Rare Movement Disorders (RMD) Research Group and Neurology Department of CHU Liège.

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Participate in the Study

Recruiting: Healthy Volunteers

To better understand focal dystonia, we are comparing brain imaging data with healthy controls.

Eligibility criteria:

- Aged 18–75

- No neurological disease or neurosurgery

- Not pregnant or breastfeeding

- No MRI contraindications (e.g., pacemakers, metal implants)

- No claustrophobia

Compensation: €50 to cover time and transportation.

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Recruiting: Patients with Focal Dystonia

Eligibility criteria:

- Aged 18–75 with diagnosed focal dystonia

- No other movement disorders or major neurological history

- Same criteria as healthy volunteers regarding MRI

 

Patients will be recruited during consultations at CHU Liège with:

Prof. Frédérique Depierreux

Dr. Éric Parmentier

Dr. David Aktan

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What Does Participation Involve?

Session 1: Neurological Evaluation (CHU Liège)

- Clinical consultation with a movement disorder specialist

- Transcranial ultrasound – imaging of the basal ganglia via a probe placed near the ear

Session 2: 7 Tesla Brain MRI (GIGA-CRC, ULiège)

- High-resolution brain scan using a safe, non-invasive imaging technique

- No radiation, no injections

 

Entire session lasts about 1 hour (setup included)

 

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About the Research Team

Dr. David Aktan – PhD researcher and neurologist in training

Prof. Frédérique Depierreux – Chair of the RMD Research Group, CHU Liège

Prof. Félix Scholtes – Neurosurgeon and neuroanatomy lecturer

Prof. Pierre Maquet – Head of Neurology, CHU-Citadelle

 

In collaboration with the Neurology Department, CHU Liège

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Study Locations

Neurology Department  - CHU Liège (Sart-Tilman site) – Consultations and ultrasounds

GIGA-CRC In Vivo Imaging Lab (ULiège Campus) – 7 Tesla Brain MRI

📍 B30, Allée du 6 Août, 4000 Liège

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Interested in Participating?

📩 Contact Dr. David Aktan
📧 david.aktan@chuliege.be
Please include your contact details and a phone number.

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About the RMD Research Group at CHU Liège

At the CHU of Liege, Pr Frédérique Depierreux has created a research unit called the “Rare Movement Disorders (RMD) Research Group”. As the name suggests, its focus is the study of rare movement disorders such as dystonia, chorea, and early-onset parkinsonism. The research is structured around three main pillars:

• Clinical practice: including Neurology, Neuropaediatrics, Neurogenetics consultations, and botulinum toxin injections;
• Research: in fields such as Genetics and Imaging;
• Teaching: training courses at the University of Liege for both local and international doctors.

For more information: Rare Movement Disorders.

 

 

Want to help advance research even further ?

Brain diseases remain among the most disabling. They could be better diagnosed and treated if we understood their causes and mechanisms more fully.

Brain donation can help confirm a patient’s diagnosis and further the understanding of brain diseases, potentially leading to new treatments. Some neurological disorders can only be definitively diagnosed through neuropathological examination (microscopic analysis).

Brain removal does not disfigure the deceased and is performed from the back of the head. It does not prevent an open-casket funeral, if that is the family’s wish. The body is returned to the family the same day.

 

🔗 Learn more: Rare Movement Disorders Group – CHU Liège

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