What Is Dystonia?
Dystonia is a movement disorder in which some of your body's muscles contract in ways you can't control. This can cause your body to twist and move in awkward ways.
Dystonia can affect one muscle, a muscle group, or your entire body. Dystonia affects about 1% of the population, and you're more likely to have it if you're assigned female at birth.
Dystonia vs. dyskinesia
Dystonia is sometimes confused with dyskinesia. Dyskinesia is one type of dystonia; it happens when muscles tense up for a longer period, which triggers involuntary movements that might seem jerky.
The main symptom of dystonia is uncontrollable muscle movements that can range from very mild to severe. Dystonia can affect different body parts, and often the signs progress through stages. Some early symptoms include:
- A "dragging leg"
- Cramping of your foot
- Involuntary pulling of your neck
- Uncontrollable blinking
- Trouble speaking
- Handwriting that gets worse after you write a few lines
Stress or fatigue may bring on your symptoms or cause them to worsen. You may also have pain and exhaustion because of the constant muscle contractions.
If dystonia symptoms appear in childhood, they usually involve your foot or hand. But then they progress to the rest of the body. After the teen years, though, the symptoms tend to level off.
When dystonia appears in early adulthood, it typically begins in your upper body. Symptoms take a while to progress to the rest of your body.
Most cases of dystonia don't have a specific cause. Dystonia seems to be related to a problem in your basal ganglia, the part of your brain that controls your muscle contractions. The problem involves the way the nerve cells communicate.
Dystonia is divided into three categories: genetic, acquired, and idiopathic.
If you have genetic dystonia, it means that the problem stems from an abnormal gene you inherited. There are several genes that are linked to dystonia, including:
- DYT1. Mutations to this gene cause DYT1 dystonia, a rare form that begins in childhood and affects the arms and legs first. It can cause serious disability.
- DYT3. Changes in this gene have been linked to tremor, muscle stiffness, and slow movements (similar to Parkinson's disease).
- DYT5 mutations may cause dopa-responsive dystonia (DRD), which is also called Segawa’s disease. Symptoms usually start in childhood and tend to worsen after physical activity as well as later in the day. DRD symptoms can often be well-controlled with levodopa (Sinemet), which is also used to treat Parkinson’s disease.
- DYT6 gene changes can cause dystonia in your head, neck, and arms.
- DYT11 mutations cause brief muscle contractions called myoclonus.
- DYT12 genetic issues cause Parkinson’s-like dystonia symptoms that come on quickly.
- DYT28 issues cause dystonia that starts in childhood.
Acquired dystonia is also known as secondary dystonia and is caused by damage to your basal ganglia, usually as a result of:
- Brain trauma
- Being deprived of oxygen, perhaps during birth
- Poisoning caused by carbon monoxide or heavy metals such as lead
- Drug interactions
Dystonia caused by a reaction to a drug is known as tardive dystonia. The symptoms are typically only short-term and can be treated with medication.
Unlike genetic dystonia, acquired dystonia typically impacts one part of your body and it usually doesn't spread.
Idiopathic means that doctors don't know the cause. Many types of dystonia happen for no clear reason.
There is no single test used to diagnose dystonia. To figure it out, your doctor will assess your symptoms and personal and family histories and also do a physical exam.
You will also likely have several tests, including blood and urine tests and tests of your cerebrospinal fluid (the fluid that surrounds your brain and spinal cord).
You may also need genetic tests to see if you carry a mutation that has been linked to dystonia. And you may have neurological tests such as EEG (electroencephalography) or EMG (electromyography).
Unless you clearly have an inherited dystonia, your doctor may also order tests to rule out other conditions that could cause similar symptoms.
Dystonia is a complex condition, and neurologists use two “axes” to classify it. Axis 1 focuses on the different ways doctors ID the disease. Axis 2 is how dystonia is separated into etiologies (causes).
- Axis 1: This focus is on things like age when it started; number and span of body parts affected; and whether the dystonia is an isolated problem or part of another movement disorder.
- Axis 2: This takes into account the cause of the disease, like a brain lesion or injury that affects how well your nerves work; or if the dystonia is inherited (genetic), acquired, or idiopathic (no known cause).
Dystonia is further grouped by the body part it affects:
Also known as torticollis, cervical dystonia is the most common type and typically happens in middle age, although anyone can get it. Cervical dystonia affects your neck muscles, causing your head to twist and turn or be pulled backward or forward.
This type of dystonia affects your eyes and usually begins with blinking that you can't control. At first, it affects just one eye, but over time, both eyes are involved. The spasms cause your eyelids to close, and sometimes they remain closed. You still have normal vision, but the closing of your eyelids makes you functionally blind.
Also called spasmodic dysphonia, this affects your throat muscles that help you speak. This type of dystonia might make your voice weak or sound hoarse or breathy, and it may be hard for others to understand what you’re saying.
This dystonia can cause problems with speech and swallowing, as it causes spasms of the jaw, lips, and tongue muscles.
This can affect your head, face, and neck. Some people have cranial dystonia as well as blepharospasm; the combination is sometimes called Meige syndrome.
Myoclonus dystonia combines the muscle contractions of dystonia with twitching (myoclonus). It strikes the neck, torso, and arms.
This only happens when you're doing a repeated activity. Writer's cramp is a type of task-specific dystonia that happens while you're writing. It affects the hand and/or forearm muscles. Another example is musician’s dystonia, which may impact your hand (in keyboard or string players), the mouth and lips (in musicians who play wind instruments), or the voice (in singers).
Dystonia can’t be prevented, and there isn’t any way to slow its progress. But there are treatments that may lessen your symptoms. Your doctor can suggest one or more treatments based on the type of dystonia you have.
Medications can help reduce the "overdrive" messages that cause your muscles to contract too much in dystonia. Drugs options may include:
- Levodopa (Sinemet) and tetrabenazine (Nitoman) act on the dopamine system in your brain. Dopamine, a neurotransmitter, plays a role in controlling muscle movement.
- Benztropine (Cogentin), procyclidine hydrochloride (Kemadrin), and trihexyphenidyl (Artane) are in a class known as anticholinergic agents. They work by blocking a neurotransmitter called acetylcholine.
- Baclofen (ED Baclofen), clonazepam (Klonopin), diazepam (Valium), and lorazepam (Ativan) are GABAergic agents, which means that they regulate the neurotransmitter GABA.
- Botulinum toxin (Botox, Xeomin) is a medication that prevents muscle contractions in a specific area of your body. It must be given by a health care provider (who injects the medication into your affected muscles) and repeated about every 3 months.
If medications don’t relieve your symptoms, or if they cause too many side effects, your doctor might suggest surgery.
- Deep brain stimulation (DBS): This involves placing an electrode into a specific area of your brain. It's then connected to a battery-powered device in your chest. The electrode transmits electrical pulses to your brain to reduce the muscle contractions.
- Other surgeries: For example, a surgeon might try to interrupt the small section of your brain that's causing the dystonia. Or they might cut or remove nerves that are triggering it.
Speech, physical, or occupational therapy
Your doctor might also suggest speech therapy, physical therapy, and stress management to treat your symptoms of dystonia.
- Speech therapy (and/or voice therapy) may help if you have laryngeal dystonia by strengthening the muscles used in speech.
- Physical therapy focuses on using movement to stretch and strengthen your body. The specific exercises that you do will depend on the type of dystonia you have. It’s best to work with a physical therapist who has experience treating neurological conditions.
- Occupational therapy is like physical therapy, but it focuses more on helping you do basic daily activities, such as getting dressed.
Alternative and complementary therapy
Alternative and complementary therapies won’t cure dystonia, but they may help with your treatment. Check with your doctor to make sure any treatments are OK for you before trying them. Options may include:
- Yoga and Pilates may help you build strength and improve coordination.
- Massage can help improve your range of motion as well as prevent tightening of your muscles.
- Meditation, deep breathing, and other relaxation exercises can reduce your spasms by helping decrease your stress.
- Biofeedback entails working with a therapist who will teach you how to reduce muscle tension while they monitor your body’s response with an electrical device.
Depending on what type you have, dystonia can lead to several problems, both physical and emotional. Some of those include:
- Problems with vision, specifically with your eyelids
- Trouble moving your jaw, swallowing, or speaking
- Pain and fatigue
- Depression, anxiety, and withdrawal
Things You Can Do at Home
Dystonia requires medical treatment, but there are some things you can do at home to help ease your symptoms. They include:
- Putting heat or ice on painful muscles
- Finding ways to manage stress, like deep breathing and reaching out to loved ones for support
- Trying “sensory tricks.” You may be able to temporarily stop a muscle spasm simply by touching that part of the body or a nearby body part.
Foods to avoid with dystonia
There is no evidence that diet affects dystonia, so it’s best to eat a normal, nutritious diet that that suits your needs and symptoms. But you may want to limit or avoid foods and drinks with caffeine. Caffeine is a stimulant that might make your symptoms worse. Be sure to check with your health care provider before making any major changes to your diet.
Vitamins and supplements haven’t been proven to help dystonia, either. If you’re thinking of trying one, it’s very important to check with your provider first. You want to make sure that it’s safe and won't interact with any of your medications.
Dystonia is a very complex neurological movement disorder that forcibly cramps your muscles and won't let them relax. It can affect people of all ages and any part of your body, including your arms, legs, torso, face, and vocal cords. Doctors don't know what causes dystonia, but they think it might have something to do with a change in the part of your brain that controls muscle movements. You can inherit the disorder genetically, or have it after brain trauma. Dystonia is usually treated with medicines or surgery.
Does dystonia lead to MS?
There is no scientific proof that dystonia causes MS. Dystonia is one of several common movement disorders that are symptoms of multiple sclerosis, but it does not cause MS.
What is the life expectancy of someone with dystonia?
If you're diagnosed with dystonia, your life expectancy shouldn't change. If your dystonia is a symptom of another disease that causes damage to your nervous system, talk to your doctor about how that may affect your lifespan.