“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, but the impact goes far deeper. The hallmark signs of dystonia are excessive, involuntary muscle contractions that cause abnormal postures and/or repetitive movements. Individuals diagnosed with dystonia also commonly experience symptoms that affect more than how the body moves.

“Besides the physical motor symptoms MENTAL HEALTH of dystonia, many patients suffer from The human brain is staggeringly complex: psychological complaints, such as anxi- structures and pathways associated ety and depression, but also problems with movement are also involved with cognition, pain, and sleep have in cognition, emotion, memory, and been reported. It appears that the type other mental functions. Research has of dystonia predicts which non-motor demonstrated that individuals with symptoms are most common. However, dystonia are prone to certain mental there is a lot of overlap,” Professor health disorders. Marina AJ de Koning-Tijssen is a in the general population will experience movement disorders specialist in the “Whether these symptoms are part depressive and/or anxiety disorders at Department of Neurology, University of the dystonia syndrome or are a some point in their lives. Medical Centre Groningen (Netherlands) consequence of living with dystonia and DMRF research grant recipient. is not totally clarified yet,” elaborates Patterns of psychiatric manifestations Much of her work is devoted to better Dr. de Koning-Tijssen. “Nevertheless, may vary depending on the type of understanding non-motor features researchers have found some clues dystonia. Individuals with cervical associated with dystonia. She explains: that it is more likely that the non- dystonia or dopa-responsive dystonia “Research showed that non-motor motor symptoms are part of the appear prone to both major depressive symptoms are an important burden dystonia syndrome.” disorder and anxiety disorders. Anxiety for many patients with dystonia. Some disorders are especially prevalent in studies showed that the non-motor ❍ Depression & Anxiety dystonia-affected musicians. Rates of symptoms even had a bigger influence Individuals with dystonia are more likely depression are high among individuals on quality of life than the dystonic to experience anxiety and depression with blepharospasm. By contrast, there symptoms.” than the general population, and at may be little or no increased risk for higher rates than individuals with other depression and anxiety associated Movement disorder neurologists are chronic disorders. Studies have shown with spasmodic dysphonia/laryngeal increasingly recommending that address- that as many as 70% of focal and gen- dystonia compared to the general ing these non-motor aspects of dystonia eralized dystonia patients will experience population. is essential for helping patients feel depression and/or anxiety over their and function as well as possible. A lifetime. For individuals with cervical It would seem intuitive that individuals team of specialists may be needed to dystonia, this number may be as high with the most severe dystonia symptoms implement a complete treatment plan. as 90%. By comparison, 35% of people are more susceptible to depression

14 DYSTONIA DIALOGUE and anxiety. In a study of mental health disorder, a non-motor feature that “Having dystonia, or any disorders among individuals with appears uniquely common among disability or chronic condition, spasmodic dysphonia, severe voice individuals with this particular impairment did seem to predict higher diagnosis but not dystonia more isn’t just about the symptoms. rates of depression and anxiety. Simi- generally. People tend to forget they larly, pain is highly correlated with depression in dystonia. But ironically, ❍ Cognition are a whole person with multiple studies have shown that the “Problems with cognition are usually anger and frustrations, guilt, severity of dystonia is not a dominant mild and have been reported in patients influence on mental health. “In some with inherited young onset dystonia depression, and it builds up. types of dystonia the psychological and myoclonus-dystonia,” says Dr. de We aren’t just a product of complaints have no association with the Koning-Tijssen. The source of cognitive severity of the dystonic motor symptoms,” changes can be challenging to assess, a sudden condition. says Dr. de Koning-Tijssen. “Therefore, and research continues to explore this. it is unlikely that the psychological Medications used to treat dystonia can “Therapy helped me symptoms are a consequence of living cause cognition problems, especially with the difficulties of dystonia.” affecting memory. Mood disorders can learn to process what I cause changes in executive functioning was feeling both mentally Regardless of the severity of dystonia and ability to self-regulate. Disabling symptoms, the presence of depression dystonia symptoms may make it difficult and physically—it made and/or anxiety is among the most to concentrate, leading to attention me pay attention to what I significant predictors of diminished deficits. quality of life. Because untreated was hanging on to, what mental health disorders can have serious Several lines of evidence suggest was good around me, what and lasting health consequences, mental health disorders are part of the several research groups have recom- underlying neurology of dystonia, not to not waste my energy on, mended more routine evaluation of secondary to the dystonia or simply a what to finally let go. I had individuals diagnosed with dystonia for coincidence. For example: co-existing mood and anxiety disorders. to sort out the person I was • Depression and anxiety often occur prior to the onset of dystonia. before dystonia, and now ❍ Social Anxiety Social anxiety is the most common • with it. And it’s helped. There may be no correlation between anxiety disorder among individuals the severity of a person’s dystonia with dystonia. One study showed that and psychiatric symptoms. 50% of patients with cervical dystonia “Our emotional state can • experience social anxiety, seemingly Increased depression is seen in both affect our symptoms. We rooted in low self-esteem due to nega- asymptomatic DYT1 gene carriers and those with dystonia symptoms. clench our necks, tighten our tive body image and not necessarily correlated to severity of dystonia • scalps when we cry, we curl Reduction in dystonia severity symptoms. often does not alleviate depression our bodies inward. It stacks or anxiety. ❍ Alcoholism on our shoulders like bricks. Myoclonus-dystonia is a risk factor Furthermore, neurotransmitters We carry everything with us.” for alcoholism, and individuals with associated with dystonia also have cervical dystonia and isolated (primary) roles in psychological processes: ~Michaela Whitney, generalized dystonias may also be prone. Alcohol abuse in myoclonus-dystonia Continued on page 16 DMRF Member may be linked to obsessive-compulsive

SPRING 2018 15 “Mention all symptoms connected to the dystonia to your neurologist, but especially depressive symptoms and anxiety are common—and important to address. Also sleep problems, fatigue, problems with alcohol consumption, and obsessions can be related to the dystonia.” ~ Professor Marina AJ de Koning-Tijssen, Department of Neurology, University Medical Centre Groningen

“Some researchers suggest that the SLEEP PAIN non-motor symptoms result from an Problems with sleep are among Not everyone with dystonia experi- altered metabolism of signaling sub- the most common and problematic ences pain, but depending on the type stances in specific regions in the brain. non-motor symptoms associated of dystonia, pain can be a pervasive Two of those substances are dopamine with dystonia. Although there is little and disabling symptom. Up to 76% of and serotonin. Especially serotonin is evidence that dystonia causes daytime cervical dystonia patients have pain in known to play a role in psychological drowsiness, several studies do suggest the head, neck, and sometimes arm. complaints but also in sleep.” Dr. de dystonia interferes with the ability to Koning-Tijssen recently earned a sleep well. Fatigue is common and Pain can often be attributed to the research contract through the DMRF’s can be debilitating. Sleep disturbances repeated dystonic movements and Myoclonus-Dystonia Research Program occur even in cases when the dystonia abnormal postures. However, not to examine the role of serotonin in symptoms are reduced or absent during all patients with similar symptoms dystonia. Elze Timmers, PhD is inte- sleep, and in cases where the dystonia experience the same degree of pain. grally involved in the project. is well-controlled with treatment. This suggests the relationship In a study of blepharospasm and between dystonia and pain may Researchers acknowledge the oromandibular dystonia patients, the be more nuanced. complex interplay between a person’s more severe the dystonia, the greater movements, behaviors, and emotions. the sleep disturbance. Interestingly, In many cases, alleviating the dystonia Dystonia is a formative experience; the in a study of focal and generalized symptoms will reduce pain. For example, impact can be life-changing. People dystonia patients, trouble sleeping the sustained intense neck muscle naturally have an individual emotional did not appear to correlate to severity contractions of cervical dystonia often and mental reaction to their circum- of motor symptoms. cause muscle pain in the neck and stances. In some cases, it does appear shoulders as well as headache. The that controlling dystonia motor symp- Abnormal brain plasticity during sleep headache develops or worsens in toms has a positive effect on mental may be implicated in the development relation to the cervical dystonia, and health. For example, a study in volun- of movement disorders, particularly the location of the headache corresponds teers with cervical dystonia revealed dystonia and Parkinson’s disease. to the location of dystonic muscles. decreased severity of depression Plasticity is the brain’s ability to adapt Alleviating the dystonic spasms can with successful botulinum neurotoxin and change over time, and sleep may reduce both the muscle pain and therapy. have a role in reshaping brain processes secondary headache. However, people “The main role for the neurologist is involved in memory and learning. may experience pain that is more to recognize the non-motor symptoms. Dystonia has been linked to abnormal difficult to directly attribute to dystonia Then, adequate treatment can be plasticity: learned movements that symptoms. Individuals with dystonic started,” explains Dr. de Koning-Tijssen. were once second nature—blinking, head tremor—a “no-no” or “yes-yes” “Treatment may be initiated by a neu- writing, walking—become abnormal. shaking of the head—appear especially rologist, but most often this will be done Researchers are beginning to explore prone to headache, even if the tremor by mental healthcare professionals the role of sleep in the brain’s learning is mild, and the location of the headache with specific expertise in these areas.” processes, and how this may relate is not clearly related to the muscle to the development of movement movement. disorders.

16 DYSTONIA DIALOGUE Researchers continue to explore the TREATING NON-MOTOR SYMPTOMS Anxiety relationship between dystonia and Living well with dystonia requires An anxiety disorder differs from pain. There may be neurological more than addressing the physical simple worry in the following ways: changes in how the body perceives movement symptoms. A team of • It is more intense and processes pain. Some research healthcare professionals from multiple • It is long-lasting suggests that individuals with dystonia disciplines may be necessary, including may have an altered threshold for pain, a movement disorder neurologist, • It interferes with work, which has been measured even in psychiatrist, clinical psychologist, and activities, or relationships body parts not affected by dystonia. others depending on the needs of the Social anxiety disorder is the fear of Depression and sleep disturbance— individual. Appropriate complementary any situation where public scrutiny which are common among dystonia therapies may provide valuable under- may occur, usually with the fear of patients—may worsen pain. Dystonia lying support to the treatment process. embarrassment or humiliation. can also cause or worsen painful orthopedic conditions such as arthritis. In addition to the importance of indi- viduals and families being mindful of Depression SENSORY FEATURES non-motor symptoms associated with Clinical depression includes at The sensory nervous system is dystonia, “it is important that neurolo- least one of these two symptoms, responsible for processing stimuli gists are aware of the existence of these nearly every day, for more than from the senses: sight, hearing, touch, non-motor symptoms,” says Dr. de two weeks: taste, smell, and body awareness. Koning-Tijssen. “By doing additional • An unusually sad mood “Research showed that the sensory research in order to understand more • Loss of enjoyment and interest function in the brain is altered in about the non-motor symptoms we in activities that were once dystonia patients. However, the precise hope to gain more attention for this enjoyable mechanism is not fully understood,” important subject.” explains Dr. de Koning-Tijssen. Some Additional symptoms of clinical of these sensory differences can be Professor Marina AJ de Koning-Tijssen depression can include: measured in the brain but not neces- is head of the Movement Disorders • Lack of energy and tiredness sarily recognized by patients at a section in the Department of Neurology, • Feeling worthless or feeling conscious level. For example, brain University Medical Centre Groningen, guilty studies using neurophysiological in the Netherlands. As a neurologist, • Thinking about death or techniques have shown that dystonia she is an expert in hyperkinetic move- wishing to be dead patients have trouble distinguishing ment disorders including dystonia, • Difficulty concentrating or certain types of visual and touch myoclonus, hyperekplexia, tremor, tics, making decisions stimuli. However, some people do and functional jerks. After her Neurology report sensory symptoms. For example, training at Leiden University, with • Moving more slowly, or becoming individuals with blepharospasm may periods at the Johns Hopkins University agitated and unable to settle experience light sensitivity. Sensory in Baltimore and the Institute of • Sleeping difficulties, or sleeping tricks, which are intentional movements Neurology and Neurosurgery, Queens too much or gestures that can temporarily reduce Square, London, she started an • Loss of interest in food, or dystonia symptoms, are common and internationally renowned movement eating too much; weight loss validate theories that dystonia is a disorders group, first in Amsterdam, or weight gain disorder of how the nervous system and since 2012 at the University of integrates motor and sensory Groningen. In 2016 the Groningen If you believe you may be experi- processes. Expertise Centre for Rare Movements encing symptoms of a mental was established, officially part of the health disorder, talk to your European Reference Network for doctor about evaluation and Rare Neurological Diseases. treatment options.

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