Dystonia

Table of Contents

    What Is Dystonia?

    People with dystonia experience excessive, involuntary muscle contractions or spasms leading to twisting, jerking, repetitive movements, and unusual body positions or postures. These movements and postures can be painful. Dystonia can affect just about any part of the body, though typically, only one area of the body is affected. Dystonia may appear to be quite different from person to person.

    Dystonia is both a disease and a condition (a description of symptoms). There are dozens of diseases and conditions where dystonia is a symptom, including Parkinson’s disease.

    While dystonia isn’t known to affect a patient’s cognitive abilities it can lead to symptoms of depression or anxiety.

    Facts About Dystonia

    • Somewhere between 300,000-500,000 people in the U.S have dystonia, making it the third-most common movement disorder behind essential tremor and Parkinson’s disease.
    • Approximately one-third of the patients are children.
    • While dystonia can occur at any age, genetic and idiopathic dystonias are often divided into early-onset (developing in childhood) vs. adult-onset.
    • Typically, dystonia develops over a period of a few months up to a few years. However, it is not considered to be progressive.

    When Do the Dystonia Symptoms First Appear?

    While dystonia can occur at any age, idiopathic and genetic dystonias can be divided into two distinct groups: early-onset (also known as childhood-onset) and adult-onset.

    Early-Onset Dystonia

    When dystonia first appears in childhood, it often begins with symptoms in the limbs. These symptoms may progress to include other regions of the body. Sometimes, the symptoms in early-onset dystonia will occur after periods of physical exertion. Other times, the symptoms will fluctuate over the course of the day.

    Adult-Onset Dystonia

    In cases where dystonia doesn’t appear until adulthood, the symptoms tend to affect one or more adjacent parts of the body, most often the muscles in the neck and/or face.

    Whether the dystonia is early onset or adult-onset, the symptoms often progress and worsen over time. In the beginning stages of dystonia, the symptoms may appear intermittently and only during voluntary movements. In later stages, dystonia may affect a patient’s posture even when relaxed.

    How Is Dystonia Categorized?

    One method of categorizing dystonia is to look at the cause of the disease in patients, which allows us to divide dystonias into 3 groups:

    1. Idiopathic dystonia
      Idiopathic dystonias do not have a clear cause.
    2. Genetic dystonia
      There are several different causes of genetic dystonia, however, the symptoms and severity can vary widely even among members of the same family. And in some instances, inheriting the defective gene does not lead to the development of dystonia in patients.
    3. Acquired dystonia
      This type of dystonia is also known as secondary dystonia or medically refractory dystonia. Conditions and diseases such as traumatic brain injury, stroke, multiple sclerosis, neonatal injury, or spinal cord injury can all have dystonia as a symptom.

    The majority of dystonia cases are idiopathic, meaning the cause is not known. In a minority of cases, dystonia has a genetic cause.

    Medical researchers have several theories as to the potential causes of dystonia. Many believe that dystonia is the result of damage to or an abnormality in the basal ganglia area of the brain. The brain damage in these cases could be the result of a number of different events — stroke, infection, exposure to a certain type of drug or chemical, or even a birth injury could all potentially cause brain damage resulting in symptoms of dystonia.

    Other medical researchers theorize that the brain’s inability to regulate its neurotransmitters is the primary cause of dystonia. Still, others believe that dystonia is a result of problems in the way the brain processes information and generates commands to move the body.

    Sometimes, even a doctor-prescribed medication can cause symptoms of dystonia. In these cases of medication-induced dystonia, the symptoms can usually be cured almost immediately, simply by stopping the medication. However, there are cases of medication-induced dystonia where stopping the medication does not resolve symptoms.

    Different Forms of Dystonia Have Different Symptoms

    Some of the most common types of dystonia include:

    • Focal dystonia
      Localized to a specific part of the body. Often referred to as “adult-onset dystonia.”
    • Segmental dystonia
      Affects 2 or more adjacent parts of the body.
    • Hemidystonia
      Involves the arm and leg on the same side of the body.
    • Multifocal dystonia
      Affects 2 or more unrelated body parts.
    • Generalized dystonia
      Affects most or all of the body.

    Common Focal Dystonias

    Some of the more common focal dystonias include:

    Cervical Dystonia

    Also known as spasmodic torticollis or torticollis, cervical dystonia is the most common form of focal dystonia. It affects the neck muscles that control the movement and positioning of the head, causing the head to be pulled forward, backward, or turned to one side. Occasionally, the patient’s shoulders will be pulled up.

    Blepharospasm

    Blepharospasm is the involuntary contraction of the muscles that control eye blinks leading to excessive eye blinking or spasms.  It is the second most common form of focal dystonia. Typically, both eyes are affected, and the contractions may cause the eyelids to close completely which creates a state of functional blindness in the patient even though their eyes are otherwise healthy.

    Hemifacial Spasm

    Hemifacial spasm is similar to blepharospasm except involves involuntary twitching on only one side of the patient’s face.

    Cranial Dystonia

    Cranial dystonia affects the muscles of the neck (like blepharospasm), along with the muscles of the head and face. Cases where cranial dystonia is present along with blepharospasm are sometimes referred to as Meige syndrome. 

    Task-Specific Dystonia

    This type of dystonia is typically caused when a patient engages in a specific, repetitive action such as writing or playing an instrument. Thus, writer’s cramp is an example of task-specific dystonia, as is musician’s dystonia (which is estimated to affect 1% of professional musicians and is most common in piano, guitar, and brass instrument musicians) and runner’s dystonia (which typically occurs in long-distance runners).

    You Are More Than Your Symptoms

    Movement disorders are incredibly complex diseases affecting multiple systems in the body. At Neurology Solutions, we believe that these challenging diseases require a comprehensive approach that treats the whole patient— not a list of symptoms. 

    How Is Dystonia Diagnosed?

    One of the primary concerns when diagnosing a dystonia patient is to determine the root cause of the patient’s exhibited dystonia symptoms. Sometimes, a thorough neurological examination is all that’s needed to diagnose dystonia. During that examination, the doctor will usually ask the patient questions such as:

    • When the dystonia symptoms first appeared
    • The area or areas of the patient’s body affected
    • If the dystonia started suddenly or gradually
    • If the dystonia is getting worse

    And of course, the examining doctor will also want to know about the patient’s complete medical history as well as relevant medical history information about the patient’s family. A history of dystonia in a patient’s family may be a good indication of a genetic cause. Likewise, certain medications may have dystonia as a common side effect. And of course, any traumatic brain injuries or infections must also be revealed and discussed.

    Our Approach to Treating Dystonia

    While there are no treatments available to prevent dystonia, there are treatments available that can ease the symptoms. Additionally, we believe that metabolic optimization may help slow its progression.

    Botulinum toxin has proven to be an effective treatment for focal dystonias. Additionally, there are several different medications available that may help ease the symptoms. Last but not least, procedures such as deep brain stimulation (DBS) might be indicated for some dystonia patients, especially in cases where medication is either not effective or causes too many side effects.

    What It’s Like to Live With Dystonia

    In most cases, a patient’s dystonia symptoms will develop over a period of a few months up to a few years. In most cases (though not all), the symptoms typically plateau at a certain point and do not progress any further. However, like any movement disorder, the symptoms of dystonia can cause major complications in the lives of its patients. 

    Living with dystonia can be a severe struggle for some as it can result in severe torsion or twisting of body parts which can be painful or affect activities of daily living. Dystonia can also affect the patient’s physical appearance which may impact their self-esteem. Additionally, the chronic pain and related impact on their daily lives can also take a toll on a patient’s mental health.

    Are Dystonia and Parkinson’s Disease Related?

    On an elemental level, dystonia and Parkinson’s disease are related in the sense that both are movement disorders. Parkinson’s disease is considered to be a neurodegenerative disease, but only the genetic forms of dystonia are considered to be neurodegenerative.

    Dystonia can be an early symptom of Parkinson’s disease and can be a side effect of certain Parkinson’s treatments.

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