Targeted Gene Panel May Provide Cost-Effective Diagnostic Tool for Movement Disorders | DMRF

Source: DMRF

Movement disorders, including #dystonia and parkinsonism, are a diverse group of diseases, often with varied and overlapping symptoms. These disorders can be acquired or inherited, with numerous genes identified, making diagnosis a challenge. A consortium of French researchers has devised a tool to help clinicians diagnose complex movement disorders. The research group created a 127-gene panel and tested it in 380 patients with suspected movement disorders. The panel had a diagnostic yield of 22%, which is in accordance with other targeted genetic testing for neurological disorders. Read more here  https://bit.ly/2zV4naY

 

Source: Targeted Gene Panel May Provide Cost-Effective Diagnostic Tool for Movement Disorders Dystonia Medical Research Foundation

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It’s ADSG’S 7th Birthday!

Australian Dystonia Support Group 7th Birthday!

The Australian Dystonia Support Group has come a long way!

The Australian Dystonia Support Group (ADSG) was formed in 2011 by Lee Pagan who has  Adult Onset Generalised Dystonia which affects many muscles throughout the face and body. 

During my search for information, support and understanding, I discovered Dystonia websites and support groups. As I read about the devastation faced by many of the contributors, I realised that more support was needed in Australia, so the Australian Dystonia Support Group was created. Each day, I connect with people who cannot imagine living another day, suffering as they do, or others who are desperately trying to hold onto their previous existences and then having to face the grief of losing the life they once had. I sympathise and empathise with them, as I often find myself wondering how I will continue to wake each morning, knowing that life as I knew it has gone, and that my life will always involve this debilitating condition. There is no cure! I can only hope for a treatment that will give me a reasonable quality of life. Source: Lee Pagan’s Story → Trapped’ 

Since then the group has grown from 4 people to approximately 700 people, now has another 3 admins who volunteer their time to run the group and also has expanded to include a website, Community Facebook and twitter page. In addition to this we:

→ Provide a closed online support group where members can share their experiences while offering a connection to others who live with similar challenges

→ Support gatherings as well as Dystonia information sessions or seminars

→ Provide Information relating to Dystonia and updates by other networks and contacts

→ Communicate with researchers in relation to Dystonia clinical trials which is then shared with members

→ Share flyers, posters and other publications to members, the community and clinics

→ Educate or raise awareness relating to Dystonia, including a yearly Dystonia Awareness Month in September

→ Necessary feedback is provided to networks and contacts to help them understand what is important to people with Dystonia and their families

The Group has come a long way with increasing community or public awareness, providing wonderful support to other Dystonia sufferers and also being in touch with Organisations, networks and researchers.

Congratulations Lee Pagan on an amazing achievement!

Related links: 

Interview with Dystonia sufferer, Lee Pagan, ADSG Founder!

→ Lee Pagan’s Story: Trapped!

→ ADSG Connecting and Supporting – A look back at 2017!

 

ADSG Quarterly Review

There was an abundance of information and events that related to Dystonia in the last 3 months. Here is what you may have missed!

February 2018

Rare Disease Day – To raise awareness for rare diseases and their impact on the lives of patients and families

Harik, who is part of the ADSG Admin team participated in the 24 hour global challenge #Mark2Curathon to raise awareness for all rare conditions including NGLY-1 deficiency. The challenge was to identify key terms, including genes, diseases, and drugs in all biomedical research which will help the researchers or scientists. Link: Dystonia and Raising Awareness!

Despite having some limitations due to Dystonia she unbelievably made it to top 5! https://mark2cure.org/blog/citsciblitz-update/

March 2018

Swallowing Awareness Day – Swallowing is Ageless and What’s this thing called Dysphagia?

⇒ Did you know that Dystonia can affect swallowing?

Brain Awareness Week – To increase public awareness of the progress and benefits of brain research

⇒ Dystonia and Brain Research are vital!

The Royal Children’s Hospital, Melbourne – Good Friday Appeal

⇒ Have you heard about their Complex Movement Disorders Program?

April 2018

Voice Awareness Month – A time to recognise and support people with voice disorders!

⇒ Did you know that laryngeal dystonia or spasmodic dysphonia is also known as a Voice Disorder?

World Voice Day – To Cherish your Voice!

Word Voice day link ⇒ NSDA Videos

Dystonia Europe 25th Anniversary Conference

⇒ History of Dystonia, Prof P Santens

⇒ What causes dystonia? Dr B Bergmans

⇒ Recent Developments in Research, R Goodchild

⇒ Blepharospasm Prof B Girard

Other Conference Presentations  Dystonia Europe YouTube Videos  

FND Awareness Day – To raise awareness for Functional Neurological Disorder

⇒ What is (Functional Neurological Disorder) FND and Have you heard of Functional Dystonia?

⇒ Interview and Q&A with Dr Alex Lehn, Neurologist and leader of the multi-disciplinary team from the Mater Hospital, Brisbane, Australia

Other FND Awareness Day Links ⇒ FND Hope YouTube Videos

World Parkinson’s Day – UniteForParkinsons

⇒ Did you know that Dystonia can be present with Parkinson’s disease?

Upcoming 

Australian Dystonia Suppoirt Group Events 

⇒ UK Dystonia Awareness Week: 5 -13 May 2018

⇒ International Clinical Trials Day: 20 May 2018

Visit our Events’ page for more! 

Research Links

International Parkinson and Movement Disorder Society  Systematic Review of Rehabilitation in Focal Dystonias: Classification and Recommendations

Review Article: ⇒ How Many Types of Dystonia? Pathophysiological Considerations

Discovery through DNA  How Many Dystonia Genes?

Dystonia Research

Click for for more!

Other related information

Virtual Medical Centre  Cervical dystonia: Causes, symptoms and treatments: Dr Rodrigues

International Parkinson and Movement Disorder Society (MDS): Recent Advances in Deep Brain Stimulation (DBS) Technology

Dystonia Medical Research Foundation Magazine (Dystonia Dialogue) ⇒ Cervical Dystonia, Burden of Dystonia is More than a Movement Disorder, Research and more!

Botulinum toxin treatment  Dr Marie-Helene Marion’s views on what can be done for people with dystonia when botulinum toxin treatment is not working well

Finding Your Way ⇒ Dystonia Guidebook for Teens

The Medical Journal of Australia (MJA) Podcasts Episode 5  Botulinum toxin for spasticity, with Dr Anupam Datta Gupta

Dystonia cramps my style  Muscle cramps and dystonia

Types of dystonia ⇒ Myoclonus dystonia

How to manage dystonia symptoms ⇒ Living Well with Dystonia

Emotional Wellness Toolkit  6 strategies for improving your emotional health

Codeine medicines are now prescription only  Info & links

Dystonia InformationJoin our GroupFind us on Facebook Australian Dystonia Support GroupFollow us us on Twitter Australian Dystonia Support Group

It’s Voice Awareness Month! A time to recognise and support people with voice disorders

Join in to raise awareness, support research into the early diagnosis and management of voice disorders and to appreciate how important it is for everyone’s voice to be heard!

Voice Awareness Month Australian Dysphonia Network

Voice Awareness Month Australian Dysphonia Network #Dysphonia #Voice #Dystonia

Did you know that laryngeal dystonia or spasmodic dysphonia is also known as a Voice Disorder?

It is a type of Dystonia (Neurological Movement Disorder), where spasms are experienced in the muscles of the larynx (voice box) that cause the voice to sound tight, strained or hoarse. It can affect speech or voice and make it difficult to communicate. Link to more info → Types of Dystonia

You can follow the Australian Dysphonia Network Facebook Page for updates or planned events. Keep an eye out for World Voice Day Aus

It’s that time of year again. The time that we encourage people to pause for a moment and spare a thought for the phenomenon that is voice!  Those tiny little vocal folds work so hard for us from the time we are born until the time we die – without any accolades or thanks…  they really are the ‘unsung hero’, so April is THEIR month.For most people – voice comes naturally. They are able to communicate with little or no effort or thought (perhaps on occasion, a little more thought would be useful ), but for some of us it’s an hour by hour (or sentence by sentence) struggle.The month of April is OUR opportunity to share our stories and to help people understand that voice does not come easily for everyone all the time. Read more here → APRIL 2018 is voice awareness month – Australian Dysphonia Network 

It’s Swallowing Awareness Day 2018! Did you know that Dystonia can affect swallowing?

Around one million Australians have a swallowing difficulty. Swallowing problems can occur at any stage of life. However, the knowledge of dysphagia and its implications remain largely unknown for most Australians. Source: Speech Pathology Australia.

Let's talk about Swallowing Disorders

Let’s talk about swallowing disorders – Speech Pathology Australia

The facts on swallowing disorders – Dysphagia. Speech Pathology Australia

 

 

 

 

 

 

 

 

 

 

 

Did you know that Dystonia can affect swallowing?

Dystonia is a neurological movement condition that can affect any part of the body and causes muscles to contract or spasm. Depending on the type of Dystonia it can cause swallowing difficulties. Link to types: https://wp.me/P57Axa-1I

Have you seen this article? A serious and often overlooked issue for patients with brain diseases: Swallowing. Link: http://bit.ly/2DpHLfe

Swallowing Awareness Day Resources: http://bit.ly/2na1NlZ

#dysphagia #900swallows #dystonia

Brain Awareness Week – Dystonia and Brain Research are vital!

Brain Awareness Week (BAW – 12-18 March 2018) is the global campaign to increase public awareness of the progress and benefits of brain research.

Brain Awareness Week 2018 Dystonia Research

Australian Dystonia Support Group. Seek permission to copy or use this image.

Dystonia is a neurological movement disorder which can appear in adults and children. It can affect any part of the body and causes muscles to contract or spasm, resulting in tremors, twisting and other uncontrollable movements.

It is important to support Brain or Dystonia research to gain a better understanding, so can aim for more effective technologies, treatments or a cure.

To donate to research, a cause or to a project relating to Dystonia click link provided!
→ Donate to Dystonia reasearch or projects

Want to participate in Dystonia research trials or studies? Visit our ‘Dystonia Research’ page.

Brain Awareness Week tips to raise awareness about Dystonia

Related Links:  

What is Dystonia? → Dystonia

Brain Foundation → Big Trivia

Visit the Brain Awareness Week site for updates and events!

Brain Awareness Week

Hastags: #Dystonia #Dystoniaawareness #brainweek

Parkinson’s & Movement Disorder Information Session for Patients and Carers!

Parkinson's & Movement Disorders Information Session for Patients & Carers

The Queensland Brain Institute at the The University of Queensland is hosting an information session for patients and carers living with Parkinson’s Disease, #Dystonia, Essential Tremor and Tourette’s Syndrome.

When: Saturday 10 March 2018 at 9am – 1pm 

Where: Toowoomba Sports Ground, 47 Arthur Street, Toowoomba, QLD 4350

RSVP: By 8 March 2018

As a light lunch will be provided for catering purposes please RSVP by completing the registration form at the following link and clicking on the ‘Register’ button.

Link: www.qbi.uq.edu.au/movementdisordersevent

Rare Disease Day – Dystonia and Raising Awareness!

Rare Disease Day Dystonia

On 28 February 2018 it is Rare Disease Day to raise awareness for rare diseases and their impact on the lives of patients and families.

It is also an opportunity for participants to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

Did you know there are some forms of Dystonia that are rare?

Dystonia is a neurological movement condition which affects adults and children and is often not well known. It can affect any part of the body and causes muscles to contract or spasm. Pain, tremors, twisting and other uncontrollable movements can be experienced. Symptoms may be due to the Basal Ganglia or other areas of the brain that control movement. Neurotransmitters may send signals to muscles to cause them to be overactive.

Even though Dystonia can be known as idiopathic or primary Dystonia, it may also be genetic or result from other health conditions such as stroke, other diseases, physical trauma, or as a side effect to certain medications. There are different types of Dystonia and some are rare, such as Dopa-responsive dystonia (DRD), which usually appears in childhood or adolescence with difficulty in walking.

Visit Ophranet to search for more rare forms of Dystonia and other rare conditions. Link: Ophranet Portal

Rare Disease Day 2018 and #CitSciMedBlitz!

Harik, who is part of the ADSG Admin team, volunteers her time despite living with Cervical Dystonia, to support people with all forms of Dystonia, including the genetic and rare forms.

She will be participating in the 24 hour challenge #Mark2Curathon to raise awareness for all rare conditions including NGLY-1 deficiency.

The challenge would be to identify key terms, including genes, diseases, and drugs in all biomedical research which will help the researchers or scientists.

It would be a big achievement in just participating as the condition affects her neck, causes muscle spasms as well other symptoms, and will make it difficult to even attempt the challenge, but she is willing to give it her best to raise awareness for all rare diseases!

You can follow the event and updates on twitter @Mark2Cure or for more info you can visit the Mark2Cure website.

Get on board! Raise awareness and support rare disease research!

#Dystonia #ShowYourRare #MyRare #RareDiseaseDay 

Codeine medicines are now prescription only – Info & links

From 1 February 2018 medicines containing codeine are no longer available without a prescription. 

Products containing codeine derivatives, pholcodine, dextromethorphan, and dihydrocodeine are unaffected by the changes.

Please refer to the following link with a list of products affected.

Link: Current list of up-scheduled codeine containing products

For further details click link: Therapeutic Goods Administration (TGA) – Codeine information hub

Codeine is an opioid drug and often used for pain relief. If you will be affected by these changes or experiencing ongoing pain, please speak to your GP or a health professional about pain management.

Links to more information, advice or support

NPS MedicineWise – Medicines with codeine – what you need to know

Pharmacy Guild of Australia – Ask your pharmacist about managing pain Consumer Flyer

Chronic Pain Australia  Chronic Pain Information  

Australian Pain Management Association (APMA) – Pain Link telephone helpline 1300 340 357 

The Australian Pain Society (APS) – Pain Management Clinics or Programs National Directory

Pain Australia – Links to National Pain Services and Programs 

Pain Management Network – Information and Clinics in NSW

Western Australia – painHEALTH 

Do you have Dystonia and need information relating to pain? 

Click on the following link to direct you to information about Dystonia and Pain management. 

http://www.dystonia.org.uk/index.php/living-with-dystonia/coping-with-dystonia/pain-management

http://www.dystonia.org.uk/index.php/about-dystonia/managing-dystonia

Do you have Dystonia and need support?

The Australian Dystonia Support Group provide support and information to Australians who have Dystonia, their family members, carers and parents of children with Dystonia. if you would like to join our support group click link or Join Our Group button.

Join our Group

ADSG Connecting and Supporting – A look back at 2017!

It was another active year for ADSG connecting with networks, supporting people with Dystonia and raising awareness.

To read more please click image or link to view recap of 2017!

ADSG Connecting and Supporting – A look back at 2017

Click to view and read more! ADSG Connecting and Supporting – A look back at 2017 PDF