Dystonia is a movement disorder that causes uncontrolled muscle movements like twisting or twitching. It can make daily activities challenging.
What is dystonia?
Dystonia is a common movement disorder that causes uncontrolled muscle movements, such as twisting or twitching. Dystonia symptoms often mirror several other medical conditions, which can make diagnosis difficult. Researchers believe that the symptoms stem from problems in how the nervous system communicates with the muscles needed for movement. AHN is here to help you understand dystonia and create a personalized care plan to address your needs.
AHN Movement Disorders Program
The AHN Movement Disorders Program is dedicated to helping patients navigate, manage, and find treatment for a variety of movement disorders.
At AHN, we’ll discuss the condition with you in detail and support you in every way. Learn more about our approach to movement disorders.
Why choose AHN for your dystonia
Our AHN movement disorder specialists have years of experience caring for people with dystonia and work in tandem with other appropriate specialties to provide focused care. We use the latest tests and treatments to diagnose and manage this condition. We can provide the answers you need while providing therapies that are most likely to improve your symptoms.
Dystonia symptoms and signs
People may experience dystonia symptoms differently. Depending on the type of dystonia, symptoms may affect one or multiple parts of the body, such as the face (eyes or jaw), arms, or legs. The most common type of dystonia is when it affects one part of your body, for example, eyelid spasms, the jaw, or the hand or wrist.
The movements caused by dystonia are involuntary, which means that someone with the condition cannot predict when they will happen. They also cannot stop these movements from happening on their own. Many patients with dystonia may experience movements that:
- Exaggerate a normal movement.
- Slow down a movement.
- Involve twisting or jerking.
Causes and risk factors
There are certain causes and risk factors for developing dystonia. To understand the particular risk or cause, it is first important to understand the types of dystonia. Dystonia can be grouped into several categories based on its cause.
Primary (idiopathic) dystonia
This is when dystonia is the only neurological symptom, and there's no identifiable underlying cause (like brain damage or another neurological disease).
Many cases of primary dystonia are thought to have a genetic basis, even if a specific gene mutation isn't always identified. Some genetic forms can be inherited from a parent, while others can occur spontaneously.
It's often considered a disorder of the basal ganglia, the part of the brain involved in controlling movement.
Secondary (symptomatic) dystonia
This type results from an underlying condition, brain injury, or exposure to certain substances. The brain injuries that can cause secondary dystonia include:
- Stroke: Damage to specific areas of the brain.
- Traumatic brain injury (TBI): Head trauma.
- Brain tumors: Lesions that affect motor pathways.
- Oxygen deprivation (hypoxia): Lack of oxygen to the brain, which can occur at birth or later in life.
- Infections: Encephalitis, meningitis.
- Neurodegenerative diseases: Conditions like Parkinson's disease, Huntington's disease, Wilson's disease, or multiple sclerosis can sometimes present with dystonia as a symptom.
Sometimes, people experience drug-induced dystonia from certain medications — especially neuroleptics (antipsychotics) and some anti-nausea drugs — can cause acute or chronic dystonia as a side effect. This is often referred to as tardive dystonia if it develops later. Exposure to certain heavy metals (like manganese) or carbon monoxide poisoning can also be a dystonia cause.
Hereditary dystonia
This is a subgroup where a specific genetic mutation has been identified. There are many different genes linked to dystonia (e.g., DYT1, DYT6, DYT11, etc.), and they can result in various forms of the disorder. Some are dominant, meaning only one copy of the mutated gene is needed to cause the condition, while others are recessive.
Functional (psychogenic) dystonia
In some cases, dystonia-like symptoms can occur without any identifiable neurological or organic cause and are believed to be related to psychological factors. This is a diagnosis made after careful evaluation to rule out other causes.
Risk factors for dystonia
While the cause is often unknown or genetic, certain factors can increase the risk or likelihood of developing the various types of dystonia or influence its occurrence:
- Genetics/family history: Having a close relative with dystonia significantly increases the risk, particularly for primary dystonia.
- Age: The age of onset varies depending on the type. Childhood-onset dystonia is often more generalized, while adult-onset dystonia is frequently focal (affecting one body part, like cervical dystonia or blepharospasm).
- Exposure to certain medications: Antipsychotics are a known risk factor for drug-induced dystonia.
- Underlying neurological conditions: Medical conditions and diseases including Parkinson's, stroke, or brain injury can increase risk.
It's important to remember that for many individuals with dystonia, especially primary dystonia, the exact reason why it develops remains unclear despite ongoing research.
Dystonia screening and diagnosis
Dystonia is sometimes misdiagnosed as a psychiatric illness. AHN’s movement disorder specialists have a thorough understanding of dystonia symptoms and use a range of diagnostic tests to evaluate your symptoms and offer a precise diagnosis.
No single test can diagnose a movement disorder. After evaluating your dystonia symptoms, your doctor may recommend one or more tests to determine the type of dystonia you are experiencing and develop a personalized treatment plan to your specific needs.
Magnetic resonance imaging (MRI) or other imaging tests
Magnetic resonance imaging (MRI) and other advanced imaging techniques provide detailed views of the brain and spine. These powerful tools help our physicians rule out underlying conditions, such as tumors, strokes, or structural abnormalities, that might be contributing to your dystonia symptoms. By carefully analyzing these images, we can ensure an accurate diagnosis and guide appropriate dystonia treatment.
Blood or urine tests
Blood and urine tests are valuable diagnostic tools that help us assess your overall health and identify potential metabolic or toxic causes of dystonia. These tests can reveal unusual levels of blood cells, hormones, or other substances in your system that may be influencing your symptoms, guiding us toward the most effective treatment plan.
Neurological tests
A comprehensive neurological examination is crucial in diagnosing dystonia. Our specialists conduct a series of neurological tests to meticulously evaluate your muscle strength, reflexes, coordination, and sensory function. These assessments help us pinpoint specific areas of involvement, understand the pattern of your dystonia, and differentiate it from other conditions affecting the nervous system.
Types and stages of dystonia
Dystonia can occur in various forms, affecting different parts of the body and ranging in severity. Understanding the specific type you or a loved one may have is crucial for an accurate diagnosis and effective treatment.
- Focal dystonia: This type affects a single, specific part of the body. Examples include writer's cramp (affecting the hand), musician's dystonia (affecting a specific limb or set of muscles used in playing an instrument), or blepharospasm (involuntary blinking or closing of the eyes).
- Cervical dystonia: Also known as spasmodic torticollis, this is a focal dystonia that primarily affects the muscles in the neck, causing the head to twist or turn involuntarily to one side, or to pull forward or backward.
- Myoclonus dystonia: This is a rare, often inherited form characterized by both rapid, shock-like jerks (myoclonus) and sustained muscle contractions (dystonia), typically affecting the arms, neck, and trunk.
- Oromandibular dystonia: Often this can occur as involuntary muscle contractions of the jaw, lips, and tongue, which can lead to difficulty speaking, chewing, or swallowing, and may cause the jaw to open, close, or deviate abnormally.
Dystonia treatment
Our team of movement disorder specialists has extensive training in diagnosing and treating dystonia and other movement disorders. We can help you find the answers you need.
Once we confirm a diagnosis, our care team provides a treatment plan that meets your needs. Many people with dystonia find that a combination of therapies helps ease their symptoms. We may meet with you regularly to address any symptoms that worsen or change over time.
We provide the most effective dystonia treatments available:
- Botulinum toxin: Botulinum toxin is a highly effective treatment for many forms of dystonia, particularly focal dystonias where specific muscle groups are involved. There are different options for this medication that works by temporarily blocking the nerve signals that cause muscles to contract, thereby reducing the involuntary spasms and abnormal postures characteristic of dystonia.
- Medication: Your physician helps determine which medications would most benefit you, based on your symptoms and specific challenges. We work with you to find a medication (and dosage) that addresses your symptoms while managing any potential side effects.
- Physical therapy: Certain exercises or activities may improve dystonia symptoms. Regular activity can also benefit your health in many ways. Our knowledgeable, caring physical therapists work with you on a customized physical therapy plan.
- Speech or occupational therapy: Our specially trained speech and occupational therapists can help you relearn how to complete daily activities that have become difficult due to symptoms.
- Surgery: Certain patients experience significant symptom relief from neurosurgical procedures, such as deep brain stimulation. Our specialists have performed hundreds of these innovative procedures, which involve surgically implanting electrodes into the brain to regulate impulses.
Dystonia FAQs
Understanding dystonia can bring many questions, whether you're a patient, a family member, or a caregiver. We've compiled answers to some of the most common inquiries to help you better navigate this condition and understand the support available.
What is the life expectancy of someone with dystonia?
For most individuals, a diagnosis of dystonia does not significantly impact life expectancy. The condition itself is generally not life-threatening. However, severe dystonia symptoms, particularly those affecting breathing or swallowing, or dystonia that is part of a broader, more complex neurological condition can influence overall health. Effective dystonia treatment and management are crucial for maintaining a good quality of life.
Does dystonia ever go away?
While some rare types of dystonia, such as those that are drug-induced or acute secondary forms, may resolve, for most cases of primary and genetic dystonia, the condition is lifelong. Although dystonia typically does not go away, available dystonia treatment options are often very effective in significantly reducing dystonia symptoms, allowing individuals to lead full and active lives.
What triggers dystonia?
Triggers for dystonia symptoms vary widely among individuals and depend on the specific types of dystonia. Common factors that can exacerbate or trigger dystonia include stress, fatigue, anxiety, and strong emotions. For some types of dystonia, specific physical movements (e.g., writing for writer's cramp) can act as triggers. Certain medications can also induce or worsen dystonia.
How do I calm my dystonia?
Calming dystonia symptoms often involves a personalized approach tailored to your specific type of dystonia. Key strategies in dystonia treatment include adherence to prescribed medications, regular botulinum toxin injections (if recommended), and engaging in physical, occupational, or speech therapy. Implementing stress reduction techniques such as deep breathing, meditation, or mindfulness can also be very beneficial. Additionally, identifying and avoiding personal triggers, ensuring adequate rest, and maintaining open communication with your care team are essential for effective management.
Contact us
To schedule an appointment or learn more about AHN neuroscience services, call 412-359-8850 if you’re in Pittsburgh or the surrounding region. If you’re in the Erie region, call 412-452-7575.