Dystonia Research

Dystonia Research

Research Updates

Volunteers needed for the following Dystonia research studies! Some are Nation wide.

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Take part in this global Survey! Physical Activity Motivators and Benefits in People with Cervical Dystonia (CD)

You will be asked to describe your usual exercise and/or physical activity in a week and demographic information about you and your dystonia, treatments and medications. After this you will complete 7 different surveys. You cannot be identified from your answers and all participants in the survey will remain anonymous. It will be running until around 20 December 2019. You can participate if you are over the age of 18 years, have been diagnosed with CD by a neurologist and regularly engage in exercise or physical activity.  

This research study is conducted by Associate Professor Lynley Bradnam (University of Auckland, New Zealand) with the following co-investigators;  Dr Rebecca Meiring and Research Assistant Tia Lindbom.

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Do you have cervical dystonia and can walk without assistance?

The Physiotherapists at Westmead Hospital are conducting a study into walking and balance in people with cervical dystonia. They are looking for adults with cervical dystonia who can walk unassisted to attend 1 – 2 sessions with a physiotherapist at Westmead Hospital. 

Link to further details → Functional screening tests in cervical dystonia

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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

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Cervical Dystonia Non-invasive Brain Stimulation Study – Clinical Neurostimulation Laboratory (UTS in Sydney) – Recruitment is on hold

Recent studies using technologies such as non-invasive brain stimulation to stimulate particular areas of the brain have shown emerging trends illustrating the potential to make a meaningful impact on quality of life in people with cervical dystonia. This study will investigate the effects of non-invasive brain stimulation to the cerebellum at the base of the brain on performance of a finger tracking task in people with CD and age and gender matched controls. People with CD will undergo five repeated sessions to assess the effects on their dystonia severity and quality of life. The research will determine if cerebellar stimulation has the potential to be used as a future treatment for some people with CD. This study was initiated by Professor Lynley Bradnam and is conducted by Dr Alana McCambridge at Technology Sydney (UTS).

Recruitment is on hold

Link to further details → Cervical Dystonia Non-invasive Brain Stimulation Study – Clinical Neurostimulation Laboratory (UTS in Sydney)

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Queensland Brain Institute (QBI) Longitudinal Study of Movement Disorders

QBI at Queensland University are looking for participants with movement disorders (e.g. Parkinson’s disease, essential tremor, dystonia etc.) and healthy controls with age ranging from 35-75 years. Better understanding is needed into the nature and cause of movement disorders in order to identify the pathway of the disease progression. This in-depth study will ultimately help in better and more timely treatments to improve the quality of life of people with movement disorders. Click link for further information and contact details → Queensland Brain Institute Movement Disorder Research.
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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 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 this 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

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Related news and updates

Genioz Genome Study (National) Update

Genioz investigated the Australian public’s expectations of personal genomics ⇒The Genioz study. The study included forums with the public in several Australian capital cities. For an update click link to read the Genioz publication on Stage 1 of data collection ⇒ Australians views on personal genomic testing: focus group findings from the Genioz study.

For further updates ⇒ http://www.genioz.net.au/page/research-findings/

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://www.mygene2.org/MyGene2/

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Research, Articles and 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.

2019

ADSG Quarterly Review August 2019
ADSG Quarterly Review May 2019


2018

ADSG Quarterly Review November 2018
ADSG Quarterly Review August 2018!

ADSG Quarterly Review April 2018


2017

Unmet Needs in Dystonia PDF or EPUB
This Research Topic contains proceedings of the final conference for COST Action BM1101 “Network of dystonia syndromes”. The topic highlights consolidated knowledge and unmet needs in a field that is evolving very fast. Topics include, How Many Dystonias? Clinical Evidence, Unmet Needs in Dystonia: Genetics and Molecular Biology, Blepharospasm, Unmet Needs in the Management of Cervical Dystonia,  Recognizing the Common Origins of Dystonia and the Development of Human, Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias and much more!

→ A History of Dystonia: Ancient to Modern
→ How Many Dystonias? Clinical Evidence
→ Cerebellum: An explanation for dystonia?
→ Dystonia Treatment: Patterns of medication use in an international cohort
→ The Frequency and Self-perceived Impact on Daily Life of Motor and Non-motor Symptoms in Cervical Dystonia
→ Adaptive Deep Brain Stimulation for Movement Disorders: The Long Road to Clinical Therapy
→ Blepharospasm Possible Treatments: Botulinum Toxin and Rose-Tinted Glasses
→ Rest tremor revisited: Parkinson’s disease and other disorders
→ Research Priorities in Limb and Task-Specific Dystonias
→ Historical developments in children’s deep brain stimulation
→ The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis
→ Does dystonic muscle activity affect sense of effort in cervical dystonia?
→ Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia
→ Sensory tricks in primary blepharospasm and idiopathic cervical dystonia
→ Sensory tricks in dystonia: Phenomenology and mechanisms
→ Central voice production and pathophysiology of spasmodic dysphonia
→ Is there a specific psychiatric background or personality profile in functional dystonia?
→ Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia
→ Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors  modifying protein  levels of torsinAΔE
→ A kinematic analysis of finger tapping in dystonia
→ The Anatomical Basis for Dystonia: The Motor Network Model
→ Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin?
→ Understanding dystonia: diagnostic issues and how to overcome them
→ Deep brain stimulation for dystonia


2016

→ Understanding dystonia: diagnostic issues and how to overcome them
→ Results of a survey relating to the healthcare experiences of Australian adults living with rare diseases
→ Historical developments in children’s deep brain stimulation
→ Deep brain stimulation for dystonia – Systematic Review 
→ Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)
→ Diagnosis and Treatment of Laryngeal Dystonia: Past, Present and Future Directions
→ A child is not a small adult: Complications in deep brain stimulation in children
→ Unmet Needs in the Management of Cervical Dystonia
→ Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
→ Botulinum toxin type A with or without needle electromyographic guidance in patients with cervical dystonia
→ Understanding dystonia: diagnostic issues and how to overcome them
→ Delays to the diagnosis of cervical dystonia – Dr David Williams and Dr Kelly Bertram 
→ Dr Anupam Datta Gupta, Consultant Physician – “Botulinum toxin injection in foot dystonia experienced by the Parkinson’s disease patients with Deep Brain Stimulation”

Read our ADSG in Action: A look back at 2016 for more links to Dystonia research


2015

→ What happens in the brain to cause dystonia?
→ Genetic – whole human genome sequencing capabilities to study dystonia at Garvan Institute
→ A randomized trial of specialized versus standard neck physiotherapy in cervical dystonia
→ Studies in Parkinson’s disease and Dystonia: An Epidemiologic Perspective


2014

→ Modulation of neck muscle activity induced by intra-oral stimulation in humans


2013

→ Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial


Research by Professor Lynley Bradnam 

→ Consensus Paper: Experimental Neurostimulation of the Cerebellum
Validation of Fear of Falling and Balance Confidence Assessment Scales in Persons With Dystonia
→ Systematic Review of Rehabilitation in Focal Dystonias: Classification and Recommendations
→ Impairments of balance, stepping reactions and gait in people with cervical dystonia
→ Investigating vision in relation to Dystonia – will have an update soon
→ Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with
Cervical Dystonia
→ Deconstructing dystonia
→ Can non-invasive brain stimulation improve dystonia?
→ Non-invasive stimulation of the cerebellum in focal dystonia

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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

You can find more research updates on the Brain Foundation, the Dystonia Medical Research Foundation (DMRF)the Dystonia UK and the Dystonia Europe site.

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