Research Updates
Volunteers needed for the following Dystonia research studies!
MRI guided focused ultrasound (MRgFUS) for focal hand dystonia (Sydney, NSW)
MRI guided focused ultrasound (MRgFUS) in individuals aged over 18 with an established diagnosis of focal hand dystonia, either writer’s cramp or musician’s dystonia, who have failed or poorly tolerated medications and/or botulinum toxin therapy. More details here: Participate in Research: MRI guided focused ultrasound (MRgFUS) ↗
Dystonia research studies at Westmead Hospital (Sydney)
There are two research studies running at Westmead Hospital in Sydney. Please read the information provided for further details on the studies and if you would like to participate.
1. Movement and postural control in dystonia patients
A research study to determine if dystonia is due to abnormality in this area of the brain, leading to abnormal postures and relatively preserved fine motor movement. The study is being conducted by A/Prof Victor Fung, Neurology Department, Westmead Hospital, and will form the basis of a thesis by Dr Florence Chang. Link to further details → Movement and postural control in dystonia patients.
2. Dystonia Coalition Project
This is a research study on patients diagnosed with a primary dystonia. This study focuses on the dystonias, a group of neurological disorders characterised by twisting movements and odd postures. The overall goal is to develop a better understanding of these diseases so that we may improve the treatment of affected patients. Conducted by the Department of Neurology Westmead Hospital (Dr Florence Chang).
Link to further details →Dystonia Coalition Project.
Queensland Parkinson’s Project (QPP) Dystonia Research – Griffith University and University of Queensland
Understanding the causes of Parkinson’s disease (PD) and related disorders including Dystonia and facilitating the development of effective treatments.
Please find attached a Letter and form to recruit patients to Parkinson’s and Dystonia studies that are undergoing at Griffith University and University of Queensland, with Dr George Mellick. You may need to confirm if there are any clinical trials running. By completing and forwarding the form, you are expressing an interest in future participation in research, but with no obligation even if a study is no longer running. More details included in the attachment → Queensland Parkinson’s Project (QPP) Dystonia Research.
Related information in regards to the Dystonia Studies: Dr Zacchi Interview – Summer 2016 newsletter.
Research using MRI and Brain Stimulation – Seeking CD patients
Deakin University (Burwood) researchers are looking for people with a diagnosis of cervical dystonia for a study investigating whether brain stimulation (Transcranial Magnetic Stimulation) can reduce cervical dystonia symptoms. Click link to direct you to details → Research using MRI and Brain Stimulation – Seeking CD patients
Currently no studies or trials
Research/Articles/Links
The following links is for informational purposes and any concerns or further info should be discussed with an appropriate health professional. This would include any research shared through social media. View our ‘ADSG Reviews’ page for the quarterly and yearly reviews. Research papers or news is included to these reviews!
The following research links are not included in our reviews.
Dystonia Overall
Cervical Dystonia
Blepharospasm
→ Blepharospasm Possible Treatments: Botulinum Toxin and Rose-Tinted Glasses (2017)
Lower Limb Dystonia
→ Research Priorities in Limb and Task-Specific Dystonias (2017)
→ Dr Anupam Datta Gupta, Consultant Physician – “Botulinum toxin injection in foot dystonia experienced by the Parkinson’s disease patients with Deep Brain Stimulation” (2016)
Spasmodic Dysphonia and Laryngeal Dystonia
→ Features of Mild-to-Moderate COVID-19 Patients With Dysphonia (2020)
→ Central voice production and pathophysiology of spasmodic dysphonia (2017)
→ Diagnosis and Treatment of Laryngeal Dystonia: Past, Present and Future Directions (2016)
Oromandibular Dystonia
→ Delineation of the Clinical Features and Treatment Response of Oromandibular Dystonia: A Multicenter Summary of 2,057 Cases – Florence Chang, Victor Fung (2020)
Dopa-Responsive Dystonia
→ Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia (2017)
Myoclonus Dystonia
→ Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS) (2016)
Early-onset torsion dystonia
→ Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE (2017)
→ Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia (2016)
Functional Dystonia
→ Is there a specific psychiatric background or personality profile in functional dystonia? (2017)
Tremor
→ Rest tremor revisited: Parkinson’s disease and other disorders (2017)
Sensory tricks and Dystonia
→ Sensory tricks in dystonia: Phenomenology and mechanisms (2017)
Deep Brain Stimulation
→ Adaptive Deep Brain Stimulation for Movement Disorders: The Long Road to Clinical Therapy (2017)
→ A child is not a small adult: Complications in deep brain stimulation in children (2016)
Other Research and Platforms
Genioz Genome Study – Investigated the Australian public’s expectations of personal genomics
The study included forums with the public in several Australian capital cities. Click links for published research.
⇒ Australians views on personal genomic testing: focus group findings from the Genioz study.
⇒ Australians’ views and experience of personal genomic testing: survey findings from the Genioz study (2019)
⇒ Australians’ perspectives on support around use of personal genomic testing: Findings from the Genioz study (May 2019)
MyGene2 website
MyGene2 is a global portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. The genetic cause of most rare conditions is unknown and as a result, most families who undergo exome sequencing or whole genome sequencing do not receive a diagnosis. By sharing information through MyGene2, a family can help and even participate in the discovery of new genetic conditions and the genes underlying these conditions. The Garvan Institute of Medical Research assisted with the website and helps families living with rare genetic disease to find others with mutations in the same gene. The aim is to support the 300+ million individuals worldwide living with rare disease to uncover a diagnosis. Link to join: https://mygene2.org/MyGene2/
Search for a clinical trial
Do not forget to ask your doctor or neuro about current Dystonia clinical trials or research!
→ Australian New Zealand Clinical Trials Registry (ANZCTR)
→ Australian Clinical Trials
→ CentreWatch
→ Consumer Guide to Clinical Trials
Australian Dystonia Support Group 