Dystonia Research

Dystonia Research

Research Updates

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

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Functional screening tests in cervical dystonia – Westmead Hospital NSW

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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Garvan Institute of Medical Research – Cervical dystonia study 

Do you have a family history of cervical dystonia or developed dystonia before 30 years old?The Garvan Institute of Medical Research is running a clinical study sequencing the genomes of people with Cervical Dystonia to identify the genes involved in developing the condition.

Link to further details or if you are interested in participating → Cervical Dystonia Genome Sequencing Clinical Study

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

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).

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

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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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There are two research studies running at Monash Health. Please read the information provided for further details on the studies and if you would like to participate.

1. Investigating attention and decision-making in motor disorders (Monash Health)

You are invited to take part of the a study at Monash Health that has been designed to explore how the brain is processing information in different disorders of movement—tremor, dystonia and Parkinson’s—using a computerised decision-making task. Please click link for further information.  Investigating attention and decision-making in motor disorders.

2. Exploring the interaction between the brain and the mind in dystonia

NO LONGER RUNNING – The study has been designed to explore the interaction between the brain and the mind in dystonia, taking a particularly close look at movement, and how this may be used to improve diagnosis and treatment.  ➡ Exploring the interaction between the brain and the mind in dystonia

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University of Western Australia – Understanding the knowledge, attitudes and behavior of families living with rare diseases regarding preconception carrier screening in Australia Questionnaire/Survey (National Survey)

This questionnaire seeks to explore and examine knowledge and attitudes of families living with rare diseases surrounding preconception carrier-screening in reducing and preventing severe recessive diseases. Your participation will help to identify future research priorities in this area. Link to further details and Questionnaire → Understanding the knowledge, attitudes and behavior of families living with rare diseases regarding preconception carrier screening in Australia.

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Genioz Genome Study (National)

This study aims to investigate the Australian public’s expectations of personal genomics. With your contribution you will be part of a large collaborative effort to understand what genomics means to people; this will help to design future applications of the technology. A team of Australian and international researchers are working together on the Genioz study. A “genome” is the term used to describe the complete genetic make-up of an individual (the information encoded in the DNA. Link: Genioz team 

Their next phase of the study includes forums with the public in several Australian capital cities. Link to updates: Genioz Genome Latest News

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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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Articles and Links

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


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 – Link: Delays to the diagnosis of cervical dystonia abstract summary

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


Research by Professor Lynley Bradnam Discipline of Physiotherapy, University of Technology Sydney:

An exploration of the relationship between confidence in balance and fear of falling to functional independence in people with dystonia –  conducting this research with investigators Dr Li Khim Kwah from UTS, Ms Melani Boyce from the Department of Physiotherapy at Westmead Hospital, Sydney and the Department of Neurology at Westmead Hospital. The purpose of this research is to understand from people living with dystonia whether dystonia impacts on daily function and influences confidence in performing physical activities. Research like this will to better understand the effect of dystonia on function in daily life.

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


Studies in Parkinson’s disease and Dystonia: An Epidemiologic Perspective

Dr Anupam Datta Gupta, Consultant Physician – “Botulinum toxin injection in foot dystonia experienced by the Parkinson’s disease patients with Deep Brain Stimulation”

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

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

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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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