About Dystonia

Dystonia is a neurological movement disorder characterized by uncontrollable, involuntary muscle spasms and contractions, causing repetitive movements, twitching, twisting, and/or abnormal postures. Muscle contractions can be sustained or intermittent and sometimes include a tremor. Dystonia can affect any part of the body, causing varying degrees of disability and pain from mild to severe.

In some cases, dystonia exists without visual symptoms. Some people have muscles that involuntarily contract, but they have no change in physical appearance. Pain is almost always present regardless of physical presentation. People often describe their affected muscles as feeling like tightropes. The experience is similar to a charley horse.

A good way of looking at dystonia is in terms of muscle pairs. During normal movement, when one muscle contracts, its opposing muscle relaxes. For example, in the arm, when we contract/flex our bicep, our tricep coordinates by relaxing. When we extend our arm, our tricep contracts and our bicep relaxes. Quadriceps and hamstrings are good examples of other muscle pairs that work in the same fashion. In dystonia, opposing muscles involuntarily contract simultaneously, which is what causes awkward movements, abnormal postures, and pain. In other words, muscles are fighting each other. As a result, people with dystonia struggle against the movements of their own body to walk, sit or rest comfortably, eat, write, and/or speak. For some, it is near impossible to sit or lie still.

Causes

The cause of dystonia is not known in most cases. It may be hereditary or caused by factors such as birth-related or other physical trauma, infection, exposure to toxins, reaction to recreational or pharmaceutical drugs, or a combination of things. Dystonia is thought to manifest due to a chemical imbalance in the brain. The origin of the chemical imbalance in most cases is unknown, but scientists believe that dystonia results from an abnormality in an area of the brain called the basal ganglia where some of the messages that initiate muscle control are processed. The cerebellum, sensori-motor cortex, and supplementary motor areas of the brain may also be involved. Scientists suspect a defect in the body’s ability to process certain neurotransmitters that help cells in the brain communicate with each other, affecting normal muscle activity. 

Prevalence

Dystonia is the third most common movement disorder after Parkinson’s disease and Essential Tremor. According to The Bachmann-Strauss Dystonia & Parkinson Foundation, approximately 500,000 people are estimated to have dystonia in the United States and Canada alone. This figure may be low when considering those yet to be diagnosed and those who have been misdiagnosed. There is little uniformity in how dystonia manifests, making it difficult to diagnose and treat. Many physicians are also not familiar with dystonia, as education and awareness are limited.

Dystonia does not discriminate. It affects men, women, and children of all ages and backgrounds. It does not impact cognition and intelligence, or shorten a person’s life span. However, given the severity of symptoms that some people experience, quality of life can be dramatically impacted. There is currently no cure for dystonia. Treatments are limited to minimizing symptoms, which are highly variable from person to person.

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Characteristics of dystonia

There are multiple forms of dystonia and variations in symptoms among those living with it. It may affect a single area of the body or multiple muscle groups. Some people experience awkward looking fixed postures, some have sporadic and irregular movements, and some have no apparent deviation from normal. Some may feel and look symptom free at rest, but have an awkward appearance when they move or try to perform a specific task.

Early symptoms may include a cramp or a tendency for the affected part of the body to tighten and/or tilt or turn to one side, as in the neck for example [see cervical (neck) dystonia images below]. In the case of dystonia in a lower limb, a foot may curl and/or leg may drag, and coordination problems with the upper and lower torso may be evident. In the face and head, eyes may blink rapidly and uncontrollably, or close entirely. Symptoms may also include a tremor or difficulty speaking.

In some cases, dystonia is action or task specific. For example, some people may have dystonia when writing, but not when they are using the same hand to type or use silverware when eating. Another example is a person who has neck spasms/contractions when walking or performing some other activity, but no symptoms sitting or standing. Further, there are some people who only experience symptoms when singing or playing a musical instrument (musician’s dystonia).

Some people have dystonia affecting one area of their body at the outset and then have other parts of their body become affected over a period of time (the time for which varies), while others have no such progression or migration. Dystonia is not considered a progressive disorder, but over time, early symptoms may become more severe in some people. There is no conclusive evidence that symptoms plateau, where symptoms level off and remain stable, but some report such a scenario.

Dystonia is a complex health condition that is not well known by the medical community or the general public. Efforts are being made every day by patients, dystonia organizations, doctors, and researchers to bring more awareness to this life altering condition so better treatments become available until a cure is found. As you can see from the images below, life with dystonia is clearly very challenging. Cervical dystonia is but one of many manifestations of this insidious disorder.

Examples of Cervical Dystonia



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