Dystonia Canada Report - Spring 2018

Dystonia Canada Report A Newsletter from the Dystonia Medical Research Foundation Canada Dystonia Clinical Fellow is Announced:

Spring/Summer 2018

Taking the First Step in Enhancing Care for Canadians Managing Movement Disorders The Dystonia Medical Research Foundation (DMRF) Canada, in partnership with Allergan Canada, is pleased to announce the selection of the candidate for thefirst-ever Clinical Fellowship for Movement Disorders, with a specialty in dystonia: Karlo J. Lizarraga, M.D, M.S., of the Movement

IN THIS ISSUE 1

The 2018 Dyfying Dystonia Challenge – Now its Your Turn!

2

New Studies Explore Novel Therapies for Musicians

3

Introducing our latest Dystonia Warrior: Sumbul Zafar

Disorders Centre, University of Toronto at Toronto Western Hospital. This is a one-year grant intended to support the training of exceptionally qualified individuals in preparation for their clinical career in movement disorders, with a focus on dystonia and a special competence in the use of botulinum toxins.

DMRF Canada is delighted to be able to award our first Fellowship to someone with Dr. Lizarraga’ s passion and expertise. That, combined with the fact that he will study under the leadership of Dr. Tony Lang; Director of the Edmond J. Safra Program in Parkinson’s Disease, Director of the Morton and Gloria Shulman Movement Disorders Clinic and the Lily Safra Chair in Movement Disorders at the Toronto Western Hospital, University Health Network made the decision clear to those on the DMRF Canada Clinical Fellowship Review Committee.

DMRF Canada sat down with Dr. Lizarraga to learn a little bit more about his career history, his interest in dystonia, and what he’s hoping to accomplish in the field.

Turn to page 4 to learn more.

Dystonia Medical Research Foundation Canada The Dystonia Medical Research Foundation (DMRF) Canada is a registered non-profit Canadian charity founded in 1976 by Samuel and Frances Belzberg of Vancouver, British Columbia.

DMRF Canada funds medical research toward a cure, promotes awareness and education, and supports the well-being of affected individuals and families.

We work in partnership with the DMRF in the United States to ensure funding of the best and most relevant dystonia medical research worldwide and with other like-minded research organizations to fund excellent dystonia research in Canada.

Board of Directors President Samuel Belzberg*

In 2018 We’re Asking YOU to Dyfy Dystonia Your Way This year, Casey Kidson, Dystonia Ambassador, Runner, Chuck’s Run Ambassador, and creator of Dyfying Dystonia, will log 7471 KM, representing the distance across Canada, through races, triathlons and training.

Now Its Your Turn.

Casey is now asking all of you in the dystonia community for help.

“We are on this journey together. Alone we are strong, but together we are unstoppable. This year, please join me in dyfying dystonia in your own personal way. This can be taking a new course, hobby, or stepping outside of your comfort zone and pushing your limits.”

Don’t let dystonia define you.

Visit: www.dystoniacanada.org/dyfyingdystonia2018 to learn more.

You Can Help Shape Dystonia Research The goal of the Global Dystonia Registry is to support future dystonia studies,

Vice President Frances Belzberg

including clinical and research trials, through the collection of data on persons

Secretary/Treasurer Pearl E. Schusheim

manifestations, most experts believe they share a common pathogenesis or

Directors Grant Connor Heather Connor

affected by dystonia. Although the focal dystonias have many different mechanism that causes the disorder. The common causes may be a similar gene defect, similar lifetime experiences, or both. Collecting information from different patient populations may help us identify the common features that they may share.

Join Us Today - and help to guide future dystonia research. and help guide future directions in research. your responses will remain confidential. To learn more please visit: www.dystoniacanada.org/reserch

Lil Faider Dennis Kessler Frederick Latendresse Rosalie Lewis Bill Saundercook Scientific Advisor Mahlon DeLong, MD *Deceased

We’ve Moved!

Canadian donations should be sent to: Dystonia Medical Research Foundation Canada 550 St. Clair Ave West, Suite 209, Toronto ON, M6C 1A5 www.dystoniacanada.org/donate It is the editorial policy to report on developments regarding all types of dystonia but not to endorse any of the drugs or treatments discussed. DMRF Canada encourages you to consult with your physician about procedures mentioned herein.

Remembering Our Founder, Samuel Belzberg The Boards of Directors and staff of DMRF and DMRF Canada are heartbroken to report that Chairman and Co-Founder Samuel Belzberg died on March 30 following a massive stroke. He passed away surrounded by his family. Sam is survived by his wife of 68 years, Fran; his children, Cheri, Marc, Wendy and Lisa; 16 grandchildren and 12 great-grandchildren.

Sam Belzberg was a Canadian businessman and well-known philanthropist whose career included extensive international experience in finance and real estate. Sam and Fran founded the DMRF in 1976 after their daughter Cheri was diagnosed. Like many others before and since, they had never heard of dystonia. The relief of a diagnosis was quickly eclipsed by the glaring absence of patient resources.

There was no pamphlet to read or support group to join. Even more troubling, there were neither clear treatment guidelines nor significant research being conducted. Few neurologists knew how to diagnosis or treat the condition. From the beginning the goals of the DMRF were straightforward: encourage investigators to study dystonia and provide information and support for patients.

The Belzberg’s embraced a global vision and were committed to building the relationships and collaborations needed to fulfill the mission, no matter where on earth it might lead. Sam was the ultimate dystonia advocate and champion. He was relentless in his drive to find a cure and to provide services for families, like his, whose lives were upended by the disorder and remained closely involved in the DMRF’s activities until the end of his life. It is difficult to overstate the influence he has had on elevating and transforming the field of dystonia research. His vision and leadership illuminated a more hopeful path forward for every family touched by dystonia. Sam’s legacy lives on indefinitely in the work of both Foundations and the countless families whose lives have been improved because of his vision and efforts.

Sharing Our Stories

Working Together to Raise Awareness for Dystonia

One of the ways for us to combat anxiety and isolation is to

DMRF Canada will be leading the ‘Dystonia Moves Canada’

come together as a community. We are proud to partner with dystonia bloggers that are living with dystonia

campaign for Dystonia Awareness month in Canada for September 2018 and beyond!

and are a voice for the community. For a list of some of the dystonia bloggers we love, please

We’re Looking for Volunteers!

visit: dystonicanada.org/bloggers. If you have

Please email us if you’re interested in getting involved.

recommendations or read about other dystonia patients working hard to ‘defy’ their own dystonia., please let us know!

Visit:dystoniacanada.org/awareness or email info@dystoniacanada.org to learn how you can get involved this year.

Email Trishamondal@dystoniacanada.org.

Read more stories at: dystoniacanada.org/patient-stories

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Weeding Through the Hype In recent months, DMRF Canada has received an

Family doctors face increasing pressure from patients asking for

increasing number of inquiries from dystonia patients

medicinal cannabis. But the study authors suggest there is little

about the efficacy of medical marjuana for the treatment

data for physicians to rely on before making that decision. The

of dystonia and other movement disorders. The research

guideline was created by a committee of 10 researchers after

in this area is still inconclusive, with more studies on

an in-depth review of clinical trials. It was peer reviewed by 40

the way. Here is what we know:

others, including doctors, pharmacists, nurses and patients.

The latest National Survey on Drug Use in Canada, conducted

tightness and stiffness, and nausea and vomiting, as well as

in 2015, indicates that the prevalence of past-year cannabis use

its side effects. The committee found acceptable research

was 12% (or 3.6 million), an increase compared to 2013 (11% or

for use of medical marijuana for some conditions including

3.1 million). Among past-year cannabis users, 24% (or 831,000)

nerve pain, palliative cancer pain, muscle stiffness related to

reported using it for medical purposes. Weed may be easy to

multiple sclerosis or spinal cord injury, and nausea and vomiting

find, but it is becoming increasingly challenging to find credible

from chemotherapy. In a Canadian Press article published in

information about its role in medicine.

February 2018, Allen said the benefits were generally minor.

In 2014, the American Academy of Neurology (AAN) published a review of research studies on the medical use of cannabis to treat neurological disorders, including cervical dystonia. The

They looked at medical marijuana for treatment of pain, muscle

“Medical cannabinoids should normally only be considered in the small handful of conditions with adequate evidence and only after a patient has tried a number of standard therapies”

report was conducted to help neurologists make informed

The researchers suggested pharmaceuticals derived from

decisions about the use of medical marijuana in states that

cannabis be tried before smoked marijuana to control dosage.

allow physicians to prescribe it. The review included studies on the use of medical marijuana in multiple sclerosis, levodopainduced dyskinesias in Parkinson’s disease, chorea associated with Huntington’s disease, Tourette syndrome, cervical dystonia, and other conditions. Part of the challenge of conducting a review of this kind is that the data available |are limited. Furthermore, there are many preparations of medical marijuana available. These include synthetic drugs that mimic the effects of cannabis and whole plant cannabis or its extracts.

In February 2018, CBC, CTV, and other news organizations reported that a new medical marijuana guideline developed

by Edmonton researchers warns physicians that the risks may outweigh the benefits for the vast majority of patients. * “The Simplified Guideline for Prescribing Medical Cannabinoids in Primary Care”, published in the Canadian Family Physician Journal on February 1, 2018 suggests the benefits of medical cannabis may be overstated, and research on its medicinal properties is sorely lacking. “Canadian doctors should think twice before prescribing the drug”, said Mike Allan, director of evidence-based medicine at the University of Alberta. who led the research team. “For most things we shouldn’t be recommending it, because we don’t have enough research to say if the benefits of the therapy outweigh the risks of the therapy”, Allan told the Canadian Press.

Whole plant cannabis can be consumed in a variety of ways that influence its chemical composition, dosing, and efficacy. It can be consumed orally, smoked, or vaporized. Cannabis products have varying ratios of specific compounds that have different physiological effects. There is no system in place for testing, labeling, or quality assurance in states that have legalized medical marijuana. These variables make it difficult to provide physicians or patients with objective information about the effects of medical marijuana.

The AAN report concluded that a study on the use of an oral cannabinoid in cervical dystonia, which the DMRF partially funded, did not produce data to support or deny efficacy— additional research is needed.

Although the pleasant effects of using cannabis are well known, like any drug there can be side effects: dizziness, slowed reaction time, paranoia, anxiety, and short-term memory loss. The AAN review reported there was a 1% risk of serious psychiatric side effects including depression, hallucinations, and becoming suicidal. As is the case with any non-traditional treatment approach, it is essential that patients with dystonia who consume or are curious about cannabis discuss the matter candidly with their physicians. Individuals who use cannabis need to inform their physicians; newbies need to have an open discussion with their doctors before lighting up.

DMRF Canada reached out to Health Canada. They have

disease, dementia, multiple sclerosis, and others. DMRF

confirmed that the decision to prescribe medical marijuana is

Canada reached out to The Royal College of Physicians and

currently up to the health care practitioner.

Surgeons of Canada, who have said that there is no official policy

Individuals with dystonia should consider sources carefully when exchanging anecdotal information about cannabis use with

on the efficacy of medical marijuana but that a few studies are currently underway.

others, especially on the internet. Online support groups, for

Reprinted with permission from DRMF Dystonia Dialogue Winter 2015

example, are full of individual, unverifiable accounts of cannabis

with edits by DMRF Canada based on information available in Can

use that represent vastly different results—some beneficial, some

ada at the time of printing. For a listing and link to cited articles and

detrimental, some neutral.

reports visit: www.dystoniacanada.org/weedingthroughthehype

The AAN report stresses that more systematic research is needed on the use of medical marijuana in neurological disorders and that if the evidence suggests it is beneficial, it should be prescribed as are other drugs. A number of clinical trials are underway in the US to investigate the use of cannabinoids in neurological disorders such as spinal cord injury, motor neuron

New Studies Explore Novel Therapies for Musicians James C. Kilik Memorial Research Awards Fund Ground-breaking Science

The following investigators earned James C. Kilik Memorial Research Awards:

The DMRF is funding two James C. Kilik Memorial Research

Robert Chen, MA, MSc, MB BCh, MB BChir,

Awards to investigate innovative treatment strategies for

University of Toronto

dystonia, the disorder that has devastated the careers of high profile musicians such as legendary pianists Leon Fleisher and Gary Graffman, oboist Alex Klein, hip hop icon Darryl “DMC” McDaniels, and numerous others.

“Modulating the Functional Connectivity of the Cerebellum in Musician’s Dystonia” Dr. Chen is using functional MRI to identify impaired connections between the cerebellum and parts of the brain that mediate movements and cognition and testing

“It’s a new day dawning for anyone like me thanks to the late,

whether these connections can be normalized by non-invasive

wonderful clarinetist Jim Kilik,” says critically-acclaimed guitarist

brain stimulation. This is the first study to look at functional brain

and DMRF Awareness Ambassador Billy McLaughlin. “Even

connections in musicians with hand dystonia and the first to test

for those who aren’t musicians, research looking at any of the

the effects of cerebellar stimulation in musicians with dystonia.

dystonias—whether hand or embouchure or laryngeal dystonia— the research is going to play out over time, as we know it always does, and help find a cure for all types of dystonia.”

James Kilik played clarinet with the Delaware Symphony and was a faculty member at Settlement Music School and Widener University. He became active in the DMRF’s Musicians With Dystonia program after developing hand dystonia in 1995, including appearing in Changing Keys, an independent film about Billy McLaughlin’s battle to reclaim his career after developing dystonia. Kilik left the DMRF a generous bequest upon his death in 2015.

Christine Kim, MD, Columbia University “A Study to Identify Kinematic and Force Measures Capturing Impairment in Musician’s Dystonia among String Players and Improvement with Retraining Therapy”. Treatment for musician’s dystonia is challenging and typically includes physical therapy to ‘re-learn’ the movements required to perform. Retraining therapies have had some success among keyboard players, but not yet among string players. Dr. Kim seeks to better understand how the timing, motion, and force of finger movements is affected by dystonia in string players in order to design more effective retraining therapy.

*Reprinted with permission from DMRF. Dystonia Dialogue, Spring 2018, Volume 41, No 1.

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Taking the First Step in Enhancing Care for Canadians Managing Movement Disorders “We are very excited to serve as the home of the first Clinical Fellowship for Movement Disorders supported by DMRF Canada and Allergan Canada. The committee couldn’t have selected a better candidate than Dr. Lizarraga, a bright, enthusiastic, inquisitive and dedicated young movement disorders trainee who will definitely make the most of this support and will make the Canadian dystonia community proud.” ~Dr. Anthony Lang, Director, Movement Disorder Clinic, Toronto Western Hospital DMRF Canada: What was it that interested you about it dystonia specifically? Were you always interested in it, or did you stumble into it?

During medical school, intellectual curiosity transformed into scientific responsibility and at some point, a decision needed to be made regarding which of the neuroscience specialties was “the one”. I was “flirting around” with Neurology, Psychiatry, Neurosurgery and that is when Movement Disorders came into the picture. While working with Dr. Antonio DeSalles at the Department of Functional Neurosurgery at UCLA, we met a young teenager with severe, medication-resistant generalized dystonia and I could only think: “we need to figure out why this happens”. She was eventually treated with deep brain stimulation and the response was amazing. She was basically cured. That was it for me.

DMRF Canada: What motivated you to apply for the DMRF Canada Clinical Fellowship?

At the beginning of my fellowship at the University of Toronto, I expressed my interest to investigate dystonia to Drs. Anthony Lang and Susan Fox. They both suggested the DMRF Canada as a potential funding mechanism. It was a pleasant surprise to find out that the DMRF Canada was actually funding a first-ever fellowship in Canada. The DMRF’s mission to fund research in dystonia aligned with my scientific interests but what I liked the most was the sense of social responsibility that the DMRF has

dystonia coalition project under Dr. Susan Fox. At the end of this fellowship I hope to become proficient in the art of botulinum toxin injections and the programming of deep brain stimulation to better serve patients with dystonia.

DMRF Canada: What do you find to be the most rewarding part of the job - as a Clinician who treats dystonia patients?

Being able to successfully treat and, even better, cure patients is the best reward for a clinician. The big problem with dystonia is that we still do not understand exactly why or how it happens. It is great to treat patients who respond to botulinum toxin or deep brain stimulation surgery but we all recognize there is a huge need for important research in dystonia.

DMRF Canada: What is a surprising fact about you?

I founded a “little school” in my hometown before leaving Peru.

“La Escuelita AQMED” combines technology with neurosciencederived methods to provide complementary medical education and to offer opportunities for young, talented physicians. In the last eight years we have had excellent results and I hope to continue leading these efforts for many more years.

DMRF Canada: Is there anything else we should know?

I am extremely lucky to have an amazing wife and family who support my academic pursuits. We are happily expecting our first baby together.

with the community and dystonia patients.

Our Thanks to Allergan Canada for

DMRF Canada: What are you hoping to achieve over the next year under the mentorship of Dr. Lang?

their support of this Fellowship.

Training under the mentorship of Dr. Anthony Lang will provide unparalleled exposure to the diagnosis and treatment of dozens of patients with dystonia. I will also have the opportunity to perform electrophysiological studies under the guidance of Dr. Robert Chen. Moreover, I will be sub-investigator for the

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Dystonia Warrior

Sumbul Zafar The dystonia community is filled with leaders and champions, one of them being Sumbul Zafar. Sumbul is a mother to two wonderful and philanthropic daughters, she is a business owner, a competitive swimmer and living with dystonia.

How It Began…

The Inspiration for Laps of Love...

In the fall of 2013, Sumbul suffered a silent stroke, which left her

Sumbul launched Laps of Love in 2016 with a vision to raise

with residual symptoms that affected her daily life. The doctors

awareness – and funds for dystonia. “There’s just not enough

and specialists could not find a logical reason why someone

awareness or information about dystonia out there. I have come

in good health at Sumbul’s age would suffer such a thing.

across so many people who look at me or see my head tilted or

Eventually, she overcame many of the challenges that she had

face pulling and think I’m trying to be funny and when I explain

experienced from her stroke however, she began to have difficulty

to them that I have dystonia, they have no idea what it is.”

speaking, swallowing and her neck would twist involuntarily.

After a year of seeing countless specialists, in the Spring of 2014

through her Laps of Love Campaign. As of last month, Sumbul

she was diagnosed with hemi-facial spasm and in the Fall of 2014,

had hit 40% of her goal.

she was diagnosed cervical dystonia.

After the Diagnosis...

Initially after the diagnosis at the age of 33, Sumbul was devastated, scared and confused. Like most dystonia sufferers she had never heard of either form of dystonia before her diagnosis. Sumbul was swimming competitively, an active mom with two young children and a busy life. She was afraid that dystonia would prevent her from having the life she had

“

Sumbul is dedicated to swimming 10,000 laps for Dystonia

dreamed of.

My daughters were the main inspiration for my campaign.

“One day after my swim, I sat on the deck dangling my feet in the water looking at the starting blocks feeling defeated. I remember thinking that there had to be some way that I could do more to raise awareness and that is when I had my first idea about a swim for dystonia. When I found out that the first fundraiser for the Chuck Saundercook event (now the Annual Chuck’s Run, Walk and Wheel for Dystonia) was a swim-a-thon many years ago, I was thrilled. What a full circle, and I certainly feel honoured to bring it back.”

Sumbul’s wish is to use her love of swimming to face her dystonia head on – and to make life easier for others dealing with the

They would come to my swim practices and swim meets

disorder. “The more people who know about dystonia, the more

and cheer so loudly and scream “go Mommy go, we love

it will strengthen the dystonia community and the support for

you!” When I am struggling with practices or I am having

ongoing research.”

trouble because of my symptoms, they stand at the end of the deck saying; “You can do it Mommy, we love you!” or “take a break Mommy”.

You can help Sumbul reach her goal to raise awareness and funds for dystonia!

Visit www.lapsoflove.ca to learn more about how you can share Sumbul’s campaign through your own networks, and stay tuned for more exicting news coming from Laps of Love in the coming months…..

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Focus on Cervical Dystonia Cervical dystonia is a focal dystonia that affects the head

Three brands of botulinum neurotoxin are approved for

and neck. Cervical dystonia produces excessive muscle

use in cervical dystonia: Botox®, Dysport®, Xeomin®.

contractions in the neck. These muscle contractions cause

Research is exploring numerous novel therapeutic targets for

involuntary, repetitive movements and awkward positions

cervical dystonia. For more details on Cervical dystonia visit:

ofthe head, neck, and sometimes shoulders.

www.dystoniacanada.org/cervicaldystonia

Cervical dystonia is sometimes referred to as spasmodic

Coping Tips

torticollis. Cervical dystonia may cause:

»» Neck to twist or tilt to the side »» Head to tip forward or back »» Shoulder to elevate toward the ear »» Neck to shift away from the midline of the body »» Tremor-like movements of the head »» Spasmodic jerking of the head Additional features of cervical dystonia may include a hand tremor, depression, and anxiety. Cervical dystonia is among the most common forms of dystonia seen in movement

Members of the DMRF’s Cervical Dystonia Support Forum on Facebook were asked to name their top coping tips.

Below is a sampling of the responses.

»» Meditation »» Physical therapy »» Positive attitude »» Reduce stressa »» Caring doctor

disorder clinics. Cervical dystonia may occur sporadically

»» Botulinum neurotoxitn injections

or be caused by physical trauma, brain injury, certain

»» Oral medications

medications, and additional secondary factors. Movement symptoms are often partially relieved by a sensory trick such

»» Heat packs

as gently touching the chin, face, or back of the head.

»» Warm baths

Up to 20% of individuals with cervical dystonia may

»» Laughter

experience a temporary remission, lasting from days to years. In fewer than 6% of cases, the dystonia spreads to

»» Educate yourself and stay informed

other body areas.

»» Acceptance

Up to 25% of people with cervical dystonia have a family

»» Learn your triggers and avoid them

member with dystonia or tremor.

Treatment may include oral medications, botulinum neurotoxin injections, peripheral denervation surgery, deep brain stimulation, and physical therapy. Complementary therapies, for example occupational therapy and stress reduction practices, may be helpful for overall wellness.

Planting Seeds for Dystonia Gardening is a wonderful and relaxing activity that you and your whole family can get involved with. This year DMRF Canada will be partnering with Vesey’s Flower Fundraising program to provide you with another avenue to help support dystonia research. The flower fundraising programs allows you to purchase bulbs and seeds through out the year. 50% of the purchase proceeds go directly to us at DMRF Canada to help with ongoing research funding. For more information visit: www.dystoniacanada.org/flowerfundraising.

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It Stacks on Our Shoulders like Bricks Burden of Dystonia is More than a Movement Disorder Dystonia is a neurological disorder that affects the physical body,

be as high as 90%. By comparison, 35% of people in the general

but the impact goes far deeper. The hallmark signs of dystonia

population will experience depressive and/or anxiety disorders at

are excessive, involuntary muscle contractions that cause

some point in their lives.

abnormal postures and/or repetitive movements. Individuals diagnosed with dystonia also commonly experience symptoms that affect more than how the body moves.

Patterns of psychiatric manifestations may vary depending on the type of dystonia. Individuals with cervical dystonia or dopa-responsive dystonia appear prone to both major depressive

“Besides the physical motor symptoms of dystonia, many

disorder and anxiety disorders. Anxiety disorders are especially

patients suffer from psychological complaints, such as anxiety

prevalent in dystonia-affected musicians. Rates of depression

and depression, but also problems with cognition, pain, and

are high among individuals with blepharospasm. By contrast,

sleep have been reported. It appears that the type of dystonia

there may be little or no increased risk for depression and

predicts which non-motor symptoms are most common.

anxiety associated with spasmodic dysphonia/laryngeal dystonia

However, there is a lot of overlap,” Professor Marina AJ de

compared to the general population.

Koning-Tijssen is a movement disorders specialist in the Department of Neurology, University Medical Centre Groningen (Netherlands) and DMRF research grant recipient. Much of her work is devoted to better understanding non-motor features associated with dystonia. She explains: “Research showed that non-motor symptoms are an important burden for many patients with dystonia. Some studies showed that the non-motor symptoms even had a bigger influence on quality of life than the dystonic symptoms.”Movement disorder neurologists are increasingly recommending that addressing these non-motor aspects of dystonia are essential for helping patients feel and function as well as possible. A team of specialists may be needed to implement a complete treatment plan.

It would seem intuitive that individuals with the most severe dystonia symptoms are more susceptible to depression and anxiety. In a study of mental health disorders among individuals with spasmodic dysphonia, severe voice impairment did seem to predict higher rates of depression and anxiety. Similarly, pain is highly correlated with depression in dystonia. But ironically, multiple studies have shown that the severity of dystonia is not a dominant influence on mental health. “In some types of dystonia the psychological complaints have no association with the severity of the dystonic motor symptoms,” says Dr. de KoningTijssen. “Therefore, it is unlikely that the psychological symptoms are a consequence of living with the difficulties of dystonia.”

Regardless of the severity of dystonia symptoms, the presence

Mental Health

of depression and/or anxiety is among the most significant

The human brain is staggeringly complex: structures and

predictors of diminished quality of life. Because untreated

pathways associated with movement are also involved in

mental health disorders can have serious and lasting health

cognition, emotion, memory, and other mental functions.

consequences, several research groups have recommended more

Research has demonstrated that individuals with dystonia are

routine evaluation of individuals diagnosed with dystonia for

prone to certain mental health disorders.

co-existing mood and anxiety disorders.

“Whether these symptoms are part of the dystonia syndrome or

Social Anxiety - Social anxiety is the most common anxiety

are a consequence of living with dystonia is not totally clarified

disorder among individuals with dystonia. One study showed that

yet,” elaborates Dr. de Koning-Tijssen. “Nevertheless, researchers

50% of patients with cervical dystonia experience social anxiety,

have found some clues that it is more likely that the non-motor

seemingly rooted in low self-esteem due to negative body image

symptoms are part of the dystonia syndrome.”

and not necessarily correlated to severity of dystonia symptoms.

Depression and Anxiety - As noted in the 2017 Dystonia Survey

Alcoholism - Myoclonus-dystonia is a risk factor for alcoholism,

Report, I ndividuals with dystonia are more likely to experience

and individuals with cervical dystonia and isolated (primary)

anxiety and depression than the general population, and at higher

generalized dystonias may also be prone. Alcohol abuse in

rates than individuals with other chronic disorders. Studies have

myoclonus-dystonia may be linked to obsessive-compulsive

shown that as many as 70% of focal and generalized dystonia

disorder, a non-motor feature that appears uniquely common

patients will experience depression and/or anxiety over their

among individuals with this particular diagnosis but not dystonia

lifetime. For individuals with cervical dystonia, this number may

more generally.

*Reprinted with permission from DMRF Dystonia Diaglogue, Spring 2018, Volume 41, No 1

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Cognition – “Problems with cognition are usually mild and have

Although there is little evidence that dystonia causes daytime

been reported in patients with inherited young onset dystonia

drowsiness, several studies do suggest dystonia interferes

and myoclonus-dystonia,” says Dr. de Koning-Tijssen. The source

with the ability to sleep well. Fatigue is common and can be

of cognitive changes can be challenging to assess, and research

debilitating. Sleep disturbances occur even in cases when the

continues to explore this. Medications used to treat dystonia

dystonia symptoms are reduced or absent during sleep, and in

can cause cognition problems, especially affecting memory.

cases in which the dystonia is well-controlled with treatment. In

Mood disorders can cause changes in executive functioning and

a study of blepharospasm and oromandibular dystonia patients,

ability to self-regulate. Disabling dystonia symptoms may make it

the more severe the dystonia, the greater the sleep disturbance.

difficult to concentrate, leading to attention deficits.

Interestingly, in a study of focal and generalized dystonia

Several lines of evidence suggest mood and anxiety disorders are part of the underlying neurology of dystonia, not secondary to the dystonia or simply a coincidence. For example:

patients, trouble sleeping did not appear to correlate to severity of motor symptoms.

“Mention all symptoms connected to the

»» Depression and anxiety often occur prior to the

dystonia to your neurologist, but especially

»» There may be no correlation between the severity

depressive symptoms and anxiety are

»» Increased depression is seen in both asymptomatic

common—and important to address.

onset of dystonia.

of a person’s dystonia and psychiatric symptoms.

DYT1 gene carriers and those with dystonia symptoms.

»» Reduction in dystonia severity often does not alleviate depression or anxiety.

Furthermore, neurotransmitters associated with dystonia also have roles in psychological processes: “Some researchers

Also sleep problems, fatigue, problems swith alcohol consumption, and obsessions can be related to the dystonia.”

suggest that the non-motor symptoms result from an altered

-Professor Marina AJ de Koning-Tijssen, Department

metabolism of signaling substances in specific regions in the

of Neurology, University Medical Centre Groningen

brain. Two of those substances are dopamine and serotonin.

Especially serotonin is known to play a role in psychological

Abnormal brain plasticity during sleep may be implicated in

complaints but also in sleep.” Dr. de Koning-Tijssen recently

the development of movement disorders, particularly dystonia

earned a research contract through the DMRF’s Myoclonus-

and Parkinson’s disease. Plasticity is the brain’s ability to adapt

Dystonia Research Program to examine the role of serotonin

and change over time, and sleep may have a role in reshaping

in dystonia.

brain processes involved in memory and learning. Dystonia has

Researchers acknowledge the complex interplay between a person’s movements, behaviors, and emotions. Dystonia is a formative experience; the impact can be life-changing. People naturally have an individual emotional and mental reaction to their circumstances. In some cases, it does appear that controlling dystonia motor symptoms has a positive effect on mental health. For example, a study in volunteers with cervical dystonia revealed decreased severity of depression with successful botulinum neurotoxin therapy.

“The main role for the neurologist is to recognize the non-motor symptoms. Then, adequate treatment can be started,” explains Dr. de Koning-Tijssen. “Treatment may be initiated by a neurologist, but most often this will be done by mental healthcare professionals with specific expertise in these areas.”

been linked to abnormal plasticity: learned movements that were once second nature—blinking, writing, walking—become abnormal. Researchers are beginning to explore the role of sleep in the brain’s learning processes, and how this may relate to the development of movement disorders.

Pain Not everyone with dystonia experiences pain, but depending on the type of dystonia, pain can be a pervasive and disabling symptom. Up to 76% of cervical dystonia patients have pain in head, neck, and sometimes arm.

Pain can often be attributed to the repeated dystonic movements and abnormal postures. However, not all patients with similar symptoms experience the same degree of pain. This suggests the relationship between dystonia and pain may be more nuanced.

Sleep

In many cases, alleviating the dystonia symptoms will reduce

Problems with sleep are among the most common and

pain. For example, the sustained intense neck muscle

problematic non-motor symptoms associated with dystonia.

contractions of cervical dystonia often cause muscle pain in the

8

neck and shoulders as well as headache. The headache develops

or worsens in relation to the cervical dystonia, and the location

professionals from multiple disciplines may be necessary,

of the headache corresponds to the location of dystonic muscles.

including a movement disorder neurologist, psychiatrist,

Alleviating the dystonic spasms can reduce both the muscle pain

clinical psychologist, and others depending on the needs of the

and secondary headache. However people may experience pain

individual. Appropriate complementary therapies may provide

that is more difficult to directly attribute to dystonia symptoms.

valuable underlying support to the treatment process.

Individuals with dystonic head tremor—a “no-no” or “yes-yes” shaking of the head—appear especially prone to headache, even if the tremor is mild, and the location of the headache is not clearly related to the muscle movement.

In addition to the importance of individuals and families being mindful of non-motor symptoms associated with dystonia, “it is important that neurologists are aware of the existence of these non-motor symptoms,” says Dr. de Koning-Tijssen. “By doing

Researchers continue to explore the relationship between

additional research in order to understand more about the

dystonia and pain. There may be neurological changes in how the

non-motor symptoms we hope to gain more attention for this

body perceives and processes pain. Some research suggests that

important subject.”

individuals with dystonia may have an altered threshold for pain, which has been measured even in body parts not affected by dystonia. Depression and sleep disturbance—which are common among dystonia patients—may worsen pain. Dystonia can also cause or worsen painful orthopedic conditions such as arthritis.

Sensory Features The sensory nervous system is responsible for processing stimuli from the senses: sight, hearing, touch, taste, smell, and body awareness. “Research showed that the sensory function in the brain is altered in dystonia patients. However, the precise mechanism is not fully understood,” explains Dr. de Koning-Tijssen. Some of these sensory differences can be measured in the brain but not necessarily recognized by patients at a conscious level. For example, brain studies using neurophysiological techniques have shown that dystonia patients have trouble distinguishing certain types of visual and touch stimuli. However, some people do report sensory symptoms. For example, individuals with blepharospasm may experience light sensitivity. Sensory tricks, which are intentional movements or

Professor Marina AJ de Koning-Tijssen is head of the Movement Disorders section in the Department of Neurology, University Medical Centre Groningen, in the Netherlands. As a neurologist, she is an expert in hyperkinetic movement disorders including dystonia, myoclonus, hyperekplexia, tremor, tics, and functional jerks. After her Neurology training at Leiden University, with periods at the Johns Hopkins University in Baltimore and the Institute of Neurology and Neurosurgery, Queens Square, London, she started an internationally renowned movement disorders group, first in Amsterdam, and since 2012 at the University of Groningen.

In 2016 the Groningen Expertise Centre for Rare Movements was established, officially part of the European Reference Network for Rare Neurological Diseases.

To review the survey results from Real Patients.

Real Answers: The Dystonia Canada Report: Requirements for Dystonia Patients and their Families in Canada, please visit: http://www.dystoniacanada.org/survey

gestures that can temporarily reduce dystonia symptoms, are common and validate theories that dystonia is a disorder of how the nervous system integrates motor and sensory processes.

Treating Non-Motor Symptoms Living well with dystonia requires addressing more than the physical movement symptoms. A team of healthcare

Gail Bartoshewski

Florence Reid

Sam Belzberg

Shirley Riopelle

and gratefully acknowledges the generous

Jack Cohen

Hans Schikor

gifts received in memory of the following:

Michelle Goodhue

Jeanette Stremel

Kenneth Jenkins

Gail Webb

Olga Jentsch

Maggie Wojtarowicz

In tribute: DMRF Canada extends our condolences

Muriel McLuhan