- Dystonias Fact Sheet
- What is dystonia?
- What are the symptoms?
- What do researchers know about dystonia?
- When do symptoms occur?
- How are the dystonias classified?
- What treatments are available?
- What research is being done?
- Where can I get more information?
- Hypervigilance in the Detection of Early Complex Regional Pain Syndrome, Type 1/Reflex Sympathetic Dystrophy—An Underutilized Tool in Treatment
- I Solved My Medical Mystery and Found Relief for My Twisted Neck
- Plenty of Doctors, Then a Self-Diagnosis
- Confirming My Dystonia Diagnosis
- Trying Treatments and Resisting a ‘Disabled’ Label
- A Brain Pacemaker
- What you need to know about dystonia
Dystonias Fact Sheet
What is dystonia?
Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurologic features. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. Some forms of dystonia are genetic but the cause for the majority of cases is not known.
What are the symptoms?
Dystonia can affect many different parts of the body, and the symptoms are different depending upon the form of dystonia. Early symptoms may include a foot cramp or a tendency for one foot to turn or drag—either sporadically or after running or walking some distance—or a worsening in handwriting after writing several lines. In other instances, the neck may turn or pull involuntarily, especially when the person is tired or under stress. Sometimes both eyes might blink rapidly and uncontrollably; other times, spasms will cause the eyes to close. Symptoms may also include tremor or difficulties speaking. In some cases, dystonia can affect only one specific action, while allowing others to occur unimpeded. For example, a musician may have dystonia when using her hand to play an instrument, but not when using the same hand to type. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable or widespread; sometimes, however, there is little or no progression. Dystonia typically is not associated with problems thinking or understanding, but depression and anxiety may be present.
What do researchers know about dystonia?
The cause of dystonia is not known. Researchers believe that dystonia results from an abnormality in or damage to the basal ganglia or other brain regions that control movement. There may be abnormalities in the brain’s ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. There also may be abnormalities in the way the brain processes information and generates commands to move. In most cases, no abnormalities are visible using magnetic resonance imaging or other diagnostic imaging.
The dystonias can be divided into three groups: idiopathic, genetic, and acquired.
- Idiopathic dystonia refers to dystonia that does not have a clear cause. Many instances of dystonia are idiopathic.
- There are several genetic causes of dystonia. Some forms appear to be inherited in a dominant manner, which means only one parent who carries the defective gene is needed to pass the disorder to their child. Each child of a parent having the abnormal gene will have a 50 percent chance of carrying the defective gene. It is important to note the symptoms may vary widely in type and severity even among members of the same family. In some instances, persons who inherit the defective gene may not develop dystonia. Having one mutated gene appears to be sufficient to cause the chemical imbalances that may lead to dystonia, but other genetic or even environmental factors may play a role. Knowing the pattern of inheritance can help families understand the risk of passing dystonia along to future generations.
- Acquired dystonia, also called secondary dystonia, results from environmental or other damage to the brain, or from exposure to certain types of medications. Some causes of acquired dystonia include birth injury (including hypoxia, a lack of oxygen to the brain, and neonatal brain hemorrhage), certain infections, reactions to certain drugs, heavy metal or carbon monoxide poisoning, trauma, or stroke. Dystonia can be a symptom of other diseases, some of which may be hereditary. Acquired dystonia often plateaus and does not spread to other parts of the body. Dystonia that occurs as a result of medications often ceases if the medications are stopped quickly.
When do symptoms occur?
Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.
Early-onset dystonia often begins with symptoms in the limbs and may progress to involve other regions. Some symptoms tend to occur after periods of exertion and/or fluctuate over the course of the day.
Adult-onset dystonia usually is located in one or adjacent parts of the body, most often involving the neck and/or facial muscles. Acquired dystonia can affect other regions of the body.
Dystonias often progress through various stages. Initially, dystonic movements may be intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonia can be associated with fixed postures and shortening of tendons.
How are the dystonias classified?
One way to classify the dystonias is based upon the regions of the body which they affect:
- Generalized dystonia affects most or all of the body.
- Focal dystonia is localized to a specific part of the body.
- Multifocal dystonia involves two or more unrelated body parts.
- Segmental dystonia affects two or more adjacent parts of the body.
- Hemidystonia involves the arm and leg on the same side of the body.
There are several different forms of dystonia. Some of the more common focal forms are:
Cervical dystonia, also called spasmodic torticollis or torticollis, is the most common of the focal dystonias. In cervical dystonia, the muscles in the neck that control the position of the head are affected, causing the head to turn to one side or be pulled forward or backward. Sometimes the shoulder is pulled up. Cervical dystonia can occur at any age, although most individuals first experience symptoms in middle age. It often begins slowly and usually reaches a plateau over a few months or years. About 10 percent of those with torticollis may experience a spontaneous remission, but unfortunately the remission may not be lasting.
Blepharospasm, the second most common focal dystonia, is the involuntary, forcible contraction of the muscles controlling eye blinks. The first symptoms may be increased blinking, and usually both eyes are affected. Spasms may cause the eyelids to close completely, causing “functional blindness” even though the eyes are healthy and vision is normal.
Cranio-facial dystonia is a term used to describe dystonia that affects the muscles of the head, face, and neck (such as blepharospasm). The term Meige syndrome is sometimes applied to cranio-facial dystonia accompanied by blepharospasm. Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. This dystonia may cause difficulties with opening and closing the jaw, and speech and swallowing can be affected. Spasmodic dysphonia, also called laryngeal dystonia, involves the muscles that control the vocal cords, resulting in strained or breathy speech.
Task-specific dystonias are focal dystonias that tend to occur only when undertaking a particular repetitive activity. Examples include writer’s cramp that affects the muscles of the hand and sometimes the forearm, and only occurs during handwriting. Similar focal dystonias have also been called typist’s cramp, pianist’s cramp, and musician’s cramp.Musician’s dystonia is a term used to classify focal dystonias affecting musicians, specifically their ability to play an instrument or to perform. It can involve the hand in keyboard or string players, the mouth and lips in wind players, or the voice in singers.
In addition, there are forms of dystonia that may have a genetic cause:
- DYT1 dystonia is a rare form of dominantly inherited generalized dystonia that can be caused by a mutation in the DYT1 gene. This form of dystonia typically begins in childhood, affects the limbs first, and progresses, often causing significant disability. Because the gene’s effects are so variable, some people who carry a mutation in the DYT1 gene may not develop dystonia.
- Dopa-responsive dystonia (DRD), also known as Segawa’s disease, is another form of dystonia that can have a genetic cause. Individuals with DRD typically experience onset during childhood and have progressive difficulty with walking. Symptoms characteristically fluctuate and are worse late in the day and after exercise. Some forms of DRD are due to mutations in the DYT5 gene. Patients with this disorder have dramatic improvements in symptoms after treatment with levodopa, a medication commonly used to treat Parkinson’s disease.
Recently, researchers have identified another genetic cause of dystonia which is due to mutations in the DYT6 gene. Dystonia caused by DYT6 mutations often presents as cranio-facial dystonia, cervical dystonia, or arm dystonia. Rarely, a leg is affected at the onset.
Many other genes that cause dystonic syndromes have been found, and numerous genetic variants are known to date. Some important genetic causes of dystonia include mutations in the following genes: DYT3, which causes dystonia associated with parkinsonism; DYT5 (GTP cyclohydrolase 1), which is associated with dopa-responsive dystonia (Segawa disease); DYT6 (THAP1), associated with several clinical presentations of dystonia; DYT11, which causes dystonia associated with myoclonus (brief contractions of muscles); and DYT12, which causes rapid onset dystonia associated with parkinsonism.
What treatments are available?
Currently, there are no medications to prevent dystonia or slow its progression. There are, however, several treatment options that can ease some of the symptoms of dystonia, so physicians can select a therapeutic approach based on each individual’s symptoms.
- Botulinum toxin. Botulinum injections often are the most effective treatment for the focal dystonias. Injections of small amounts of this chemical into affected muscles prevents muscle contractions and can provide temporary improvement in the abnormal postures and movements that characterize dystonia. First used to treat blepharospasm, such injections are now widely used for treating other focal dystonias. The toxin decreases muscle spasms by blocking release of the neurotransmitter acetylcholine, which normally causes muscles to contract. The effect typically is seen a few days after the injections and can last for several months before the injections must be repeated. The details of the treatment will vary among individuals.
- Medications. Several classes of drugs that affect different neurotransmitters may be effective for various forms of dystonia. These medications are used “off-label”, meaning they are approved by the U.S. Food and Drug Administration to treat different disorders or conditions but have not been specifically approved to treat dystonia. The response to drugs varies among individuals and even in the same person over time. These drugs include:
- Anticholinergic agents block the effects of the neurotransmitter acetylcholine. Drugs in this group include trihexyphenidyl and benztropine. Sometimes these medications can be sedating or cause difficulties with memory, especially at higher dosages and in older individuals. These side effects can limit their usefulness. Other side effects such as dry mouth and constipation can usually be managed with dietary changes or other medications.
- GABAergic agents are drugs that regulate the neurotransmitter GABA. These medications include the benzodiazepines such as diazepam, lorazepam, clonazepam, and baclofen. Drowsiness is their common side effect.
- Dopaminergic agents act on the dopamine system and the neurotransmitter dopamine, which helps control muscle movement. Some individuals may benefit from drugs that block the effects of dopamine, such as tetrabenazine. Side effects (such as weight gain and involuntary and repetitive muscle movements) can restrict the use of these medications. Dopa-responsive dystonia (DRD) is a specific form of dystonia that most commonly affects children, and often can be well managed with levodopa.
- Deep brain stimulation (DBS) may be recommended for some individuals with dystonia, especially when medications do not sufficiently alleviate symptoms or the side effects are too severe. DBS involves surgically implanting small electrodes that are connected to a pulse generator into specific brain regions that control movement. Controlled amounts of electricity are sent into the exact region of the brain that generates the dystonic symptoms and interfere with and block the electrical signals that cause the symptoms. DBS should be conducted by an interdisciplinary team involving neurologists, neurosurgeons, psychiatrists, and neuropsychologists, as there is intensive follow-up and adjustments to optimize an individual’s DBS settings.
- Other surgeries aim to interrupt the pathways responsible for the abnormal movements at various levels of the nervous system. Some operations purposely damage small regions of the thalamus (thalamotomy), globus pallidus (pallidotomy), or other deep centers in the brain. Other surgeries include cutting nerves leading to the nerve roots deep in the neck close to the spinal cord (anterior cervical rhizotomy) or removing the nerves at the point they enter the contracting muscles (selective peripheral denervation). Some patients report significant symptom reduction after surgery.
- Physical and other therapies may be helpful for individuals with dystonia and may be an adjunct to other therapeutic approaches. Speech therapy and/or voice therapy can be quite helpful for some affected by spasmodic dysphonia. Physical therapy, the use of splints, stress management, and biofeedback also may help individuals with certain forms of dystonia.
What research is being done?
The ultimate goals of research are to find the cause(s) of the dystonias so that they can be prevented, and to find ways to cure or more effectively treat people who are affected. The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), is the Federal agency with primary responsibility for brain and neuromuscular research. NINDS sponsors research on dystonia both in its facilities at the NIH and through grants to medical centers and institutions throughout the country. Scientists at other NIH institutes also conduct research that may benefit individuals with dystonia. Scientists at the National Institute on Deafness and Other Communication Disorders (NIDCD) are studying improved treatments for speech and voice disorders associated with dystonia. The National Eye Institute (NEI) supports work on the study of blepharospasm and related problems, and the Eunice Kennedy ShriverNational Institute of Child Health and Human Development (NICHD) supports work on dystonia, including the rehabilitation for the disorder.
Scientists at NINDS laboratories have conducted detailed investigations of the patterns of muscle activity, imaging studies of brain activity, and physiological studies of the brain in persons with dystonia.
Treatment studies, using surgery or medication, are being conducted in many centers, including the NIH. To learn more about clinical studies on dystonia, please go to www.clinicaltrials.gov.
Recently, the Dystonia Coalition—a clinical research network for dystonia— has been established with support from the NINDS and the NIH Office of Rare Disease Research as part of the Rare Disease Clinical Research Network. For more information on the clinical studies and patient registry established by the Dystonia Coalition, see http://rarediseasesnetwork.epi.usf.edu/dystonia/.
The search for genes responsible for some forms of dystonia continues. In 1989 a team of researchers mapped a gene for early-onset torsion dystonia to chromosome 9; the gene was subsequently named DYT1. In 1997 the team sequenced the DYT1 gene and found that it codes for a previously unknown protein now called “torsin A.” The discovery of the DYT1 gene and the torsin A protein provide the opportunity for prenatal testing, allow doctors to make a specific diagnosis in some cases of dystonia, and permit the investigation of molecular and cellular mechanisms that lead to disease.
The discovery of the mutation in “torsin A’ has enabled scientists to study animal models into which the mutated gene has been introduced. Through research with patients informed by the latest discoveries from genetics and basic neuroscience, scientists and doctors hope to better understand dystonia and find more effective treatments.
Where can I get more information?
For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:
P.O. Box 5801
Bethesda, MD 20824
Information also is available from the following organizations:
Benign Essential Blepharospasm Research Foundation
637 North 7th Street Suite 102
P.O. Box 12468
Beaumont, TX 77726-2468
American Dystonia Society
17 Suffolk Lane
Princeton Junction, NJ 08550
“Dystonias Fact Sheet”, NINDS, Publication date January 2012.
NIH Publication No. 12-717
Back to Dystonias Information Page
See a list of all NINDS disorders
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NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient’s medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
About Dystonia *
Dystonia is a movement disorder that causes involuntary, and sometimes painful, muscle contractions, which force the body into repetitive movements and/or awkward, irregular postures. There are multiple forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom. Dystonia can affect any part of the body including the arms, legs, trunk, neck, eyelids, face, or vocal cords.
Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Dystonia affects men, women, and children of all ages and backgrounds. Estimates suggest that as many as 300,000 to 500,000 people in North America are affected. Dystonia causes varying degrees of disability and pain, from mild to severe.
Some forms of dystonia are believed to be genetic, but the cause for the majority of cases is not known. It could be something that happened to the brain, like exposure to birth injury, infection, or chemical. Currently, there are no medications or treatments to prevent dystonia or slow its progression, nor is there a cure. There are several treatment options that can ease some of the symptoms of dystonia, including:
Botulinum toxin (botox) injections are often the most effective treatment of focal dystonias. Botox injected into affected muscles prevents muscle contractions and can provide temporary improvement in the abnormal postures and movements that characterize dystonia. First used to treat blepharospasm, such injections are now widely used for treating other focal dystonias;
- Medications, including several classes of drugs that affect different neurotransmitters may be effective for various forms of dystonia;
- Deep Brain Stimulation, or DBS, which involves implanting small electrodes that are connected to a pulse generator into specific brain regions that control movement.
Although there are multiple forms of dystonia and the symptoms of these forms may outwardly appear quite different, the element that all forms share is the repetitive, patterned, and often twisting involuntary muscle contractions. Forms of dystonia include:
* Source: DMRF, Dystonia Coalition, Bachman Strauss, Tyler’s Hope and NINDS
Hypervigilance in the Detection of Early Complex Regional Pain Syndrome, Type 1/Reflex Sympathetic Dystrophy—An Underutilized Tool in Treatment
Deep Brain Stimulation
Deep brain stimulation (DBS) is largely replacing ablative surgery for dystonia, particularly DBS of the globus pallidus internus (DBS-GPi). In 2003, the US Food and Drug Administration (FDA) approved the Activa® Dystonia Therapy System under the Humanitarian Devices Exemption process for unilateral or bilateral stimulation of the GPi or the subthalamic nucleus for the treatment of chronic and intractable (i.e. drug-refractory) primary dystonia (generalised, segmental, hemi- and cervical dystonia). Controlled studies of DBS in CD are not available, and most case series report on small-sized samples with heterogeneous dystonic conditions. The Canadian multicentre, single-blind study prospectively evaluated 10 patients with disabling CD, and reported significant improvement in the TWSTRS pain subscore 12 months after bilateral DBS-GPi.60 After a mean follow-up of 32 months, Hung et al. found a 50% decrease in the TWSTRS pain subscore in 10 patients who underwent bilateral DBS-GPi for refractory CD.61 Similar results were reported by Krauss et al.62 Only the Canadian study evaluated QoL, and it found a significant improvement in SF-36 scores after surgery.60
Several rehabilitation techniques for the treatment of CD have been reported, but the data are generally of poor methodological quality.63 In the single RCT available, neither pain nor QoL was evaluated.64
CD is a chronic disorder that has a severe impact on the QoL of patients,24,25,27–29,31 comparable to that found in other chronic neurological disorders such as multiple sclerosis.24 Pain is present in almost two-thirds of patients with CD and represents one of the QoL domains that is most affected in CD.3,9 The main determinants for a poor QoL are depression, anxiety and pain.27–29,30,32,33
Although there are no specific trials that have evaluated the effect of pharmacological, surgical or physical treatments on pain or QoL as primary outcomes, the best data available suggest that all interventions that have improved dystonia have also alleviated pain and improved QoL domains.25,27,29,40,47,48,51,52,58,59,60,61
The relevance of pain for the management of CD suggests that treatments for CD that strictly target dystonic movements may not be sufficient to have a major impact on QoL.25,27,29,51,52 The therapeutic strategy to manage CD likely requires multiple pharmacological/ surgical interventions to target dystonia, pain, depression and anxiety in order to achieve a major decrease in the burden of disease. ■
I Solved My Medical Mystery and Found Relief for My Twisted Neck
I was standing at the foot of a German Rail escalator, on a return trip from Europe, when I noticed my neck felt “funny.” I just had completed nursing school and was to begin a new job as an intensive care unit (ICU) nurse. Life could not be better.
The more I worried about the way my neck was twisting, the worse the movements became. I found myself constantly fighting the spasms, trying my hardest to keep my head centered. When I did succeed, it was with the greatest of effort and the results were short-lived. The pulling sensations gave way to more forceful wrenching movements over which I had no control. By now I was scared, very scared.
Plenty of Doctors, Then a Self-Diagnosis
My neck was not getting any better. It was frozen in position — causing me intense discomfort which went from lasting several weeks, to months, and eventually, years.
I invested in electric heating blankets, over-the-counter pain medications, ice packs, and other remedies I thought would fix my neck. The stiffness was unbearable. I hated what it was doing to me and what it was doing to my self-esteem. There were times when I felt as if my head was about to be ripped from my neck. The spasms became my abuser, invading my life as I drove, watched television, ate, and as I tried to carry out my duties as an ICU nurse.
I began seeing doctors, plenty of them. They took blood tests, scanned my head and neck, threw me in traction, prescribed muscle relaxant pills, and filled out disability claim forms. However, they gave no real answers or diagnosis. When my head scan results came back negative, I was relieved that I didn’t have a brain tumor or multiple sclerosis. The only result the MRI reported was “hypertrophy of the bilateral sternocleidomastoids,” which I didn’t know how to interpret medically, other than understanding the reference to the major muscles in the neck region. Was this a crucial finding?
Finally, I diagnosed myself by finding a picture of a grimacing woman with a twisted neck in Merritt’s Textbook of Neurology. There she was looking back at me on paper. I wasn’t crazy after all! I found the answer — dystonia!
The word swirled around in my head as I came to terms with my newfound knowledge. “Dystonia,” the book read, “a neurological disorder characterized by over activity of a specific muscle or group of muscles. This causes involuntary movements and tremors, sustained muscle contractions and abnormal bizarre postures.”
Confirming My Dystonia Diagnosis
I wanted a real diagnosis, so I sought out the help of Dr. Mitchell Brin, a neurologist practicing at Mt. Sinai hospital in New York City, who was famous for his diagnostic ability and knowledge of movement disorders. I had read all 98 scientific articles published by him before walking into his office. He reminded me of a mad scientist with a clear mission — finding a cure for dystonia.
Dr. Brin performed a three-hour long neurological exam and history, after which he immediately told me I had dystonia. The woman in the textbook existed after all! By this point, I could no longer sit or stand for extended periods of time. I had trouble swallowing certain foods and sleeping in one position, and driving had become a horror.
Brin explained that dystonia was a disorder rooted in the basal ganglia of the brain — the center that coordinated movement. The over-activity of the affected muscles caused involuntary movements, tremors, sustained muscle contractions and abnormal postures. He emphasized that dystonia was not a psychiatric disease; nor was it caused by stress, a muscle disorder, a seizure disorder or anything fatal.
Apparently, I began exhibiting signs of dystonia at age 19, and had facial spasms, tics involving the eyes and chronic laryngitis starting around age 13.
I left Brins’ office with the diagnosis of cervical dystonia, dystonia, and dysphonia — a form of dystonia affecting the vocal cords. I had always wondered why I never could be heard during ICU revivals.
Trying Treatments and Resisting a ‘Disabled’ Label
Immediately I was introduced to Botox (botulinum toxin) which, when injected, stops overactive muscles from contracting for a period of 12 weeks or so.
I also began trials of different oral medications that were more commonly used to treat other medical conditions such as spasticity, tremors, neuropathy, seizures, Parkinson’s disease, and epilepsy. I took multiple drugs over the next six years. The drugs provided no symptom relief, instead causing a number of side-effects ranging from dry mouth to diarrhea to Parkinson-like symptoms and insomnia.
By 2003, I had done everything I could medically. I began to wonder if I should just quit. My local neurologist, a quiet fellow, had nothing to offer me. There was little new applicable research and what research did exist was primarily focused on a specific protein, genetics, and dystonic mice.
Gradually, I realized I was disabled. For me, dystonia remained a condition for which there was little, if any, new treatment that would alleviate the symptoms, the spasms, the exhaustion, the utter discomfort and the feeling of despair. I didn’t want to live in darkness when there was light. I continued avoiding the “For Disabled ” seats on the bus and kept on caring for my patients as a critical care nurse.
A Brain Pacemaker
Then I heard about a newly developed surgical procedure — deep brain stimulation — bascially, placement of a brain pacemaker.
The Activa Therapy or DBS System consists of three parts: leads, extensions and the neurostimulator or IPG. Sometimes called a “brain pacemaker,” it produces the electrical pulses needed for stimulation. These electrical pulses are delivered through the extension and the lead to the targeted areas in the brain, which diminishes abnormal movements. The neurostimulator pulses can be adjusted non-invasively by a clinician using a programmer to check or change the settings.
Surprisingly, I had been deemed a candidate for DBS in 1998 when it was still considered experimental, but I was responsive to the medication I was on at the time. Plus I wasn’t too thrilled about having my brain opened up by someone else. I had always viewed my brain as an intellectual gift and thus did not want any prying hands inside it. I was hesitant in making the decision, fearing the gravity of brain surgery and having to constantly explain the wires in my head to employers.
Ultimately, though, I opted for the procedure and underwent DBS in December of 2004. After much fine-tunning of the neurostimulator, patience, and a dedicated team, I began a new life educating others with the dystonia and bringing media awareness to the unknown disorder that is dystonia.
Beka Serdans is a critical care nurse of 30 years who has blogged for Medscape Nurses about issues related to bedside critical care as well as larger healthcare concerns. She holds an MS degree and Adult NP license, and works as an active private duty clinical bedside nurse in New York City. She also runs a nonprofit organization for dystonia, as well as a dystonia Facebook page. Beka has been featured in multiple media venues including The Oz Radio Show-Oprah, NBC, CBS, Nursing /Neurology/Disability magazines.
What you need to know about dystonia
The symptoms of dystonia vary from mild to severe and can impact different parts of the body. The early symptoms include:
- foot cramps
- a “dragging leg”
- uncontrollable blinking
- difficulty speaking
- involuntary pulling of the neck
Signs and symptoms vary depending on the type of dystonia they have. Below are some common examples:
Cervical dystonia, also known as torticollis, is the most common form. It affects only one body part and generally starts later on in life. The neck muscles are affected most. Symptoms can include:
- twisting of the head and neck
- pulling forward of the head and neck
- pulling backward of the head and neck
- pulling sideways of the head and neck
Cervical dystonia can produce mild to severe symptoms. If muscle spasms and contractions are frequent and severe enough, the individual may also experience stiffness and pain.
Share on PinterestBlepharospasm affects the musculature of the eye.
The muscles around the eyes are affected. Symptoms might include:
- photophobia (sensitivity to light)
- irritation in the eye(s)
- excessive blinking, often uncontrollable
- eyes close uncontrollably
People with severe symptoms may find it impossible to open their eyes for several minutes.
The majority of people with blepharospasm find that symptoms worsen as the day progresses.
Dopa-responsive dystonia primarily affects the legs. Onset occurs from ages 5-30. This type of dystonia responds well to levodopa, a dopamine medication.
The most common symptom is a stiff, unusual walk, with the sole of the foot bent upwards. In some cases, the foot may turn outwards at the ankle.
The individual experiences spasms in the muscles on one side of the face. Symptoms may be more prominent when the individual is under mental stress or physically tired.
The muscles in the voice box (larynx) spasm. People with laryngeal dystonia may sound very quiet and breathy when they speak, or strangled – depending on which way the muscle spasms (in or out).
This type of dystonia affects the jaw and mouth muscles. The mouth can pull outwards and upwards.
Some individuals will only have symptoms when the muscles of the mouth and jaw are being used, while others may experience symptoms when the muscles are not in use. Some individuals may have dysphagia (problems swallowing).
Writer’s cramp involves uncontrollable cramps and movements in the arm and wrist. This is a task-specific dystonia, because it affects people who do a lot of writing before symptoms appear.
Other task-specific dystonias
- musician’s cramp
- typist’s cramp
- golfer’s cramp
Generalized dystonia normally affects children at the beginning of puberty. Symptoms generally occur in one of the limbs and eventually spread to other parts of the body.
- Muscle spasms.
- An abnormal, twisted posture, due to contractions and spasms in the limbs and torso.
- A limb (or foot) may turn inwards.
- Parts of the body may suddenly jerk rapidly.
In this rare version of dystonia, muscle spasms and abnormal body movements only happen at specific moments.
A paroxysmal dystonia attack can look like epilepsy during a seizure (fit). However, the individual does not lose consciousness and will be aware of their surroundings, unlike epilepsy. An attack can last for just a few minutes, but in some cases, may persist for several hours. The following triggers may bring on an attack:
- mental stress
- tiredness (fatigue)
- consuming alcoholic beverages
- consuming coffee
- a sudden movement