Who is affected by dystonia

In its early stages and in milder forms, dystonia might register as an annoyance. For example, dystonia that affects only the vocal cords may mean a person has to make an extra effort to talk. Adding a layer of complexity to the condition, researchers are unsure of its cause. Dystonia can develop in multiple ways, ranging from genetic mutations or as a side effect of a medication.

In many cases, dystonia emerges for unknown reasons. While the disorder has no cure, some forms of it can be well-managed through personalized treatment plans that may include medication, botulinum toxin injections, or deep brain stimulation DBS surgery.

At Yale Medicine, a team of expert neurologists and neurosurgeons work together to find solutions for each patient. Your doctor will perform a detailed interview and examination to understand your symptoms and how best to help you. This may involve trying oral medications, botulinum toxin injections, or considering DBS surgery in appropriate cases. Treatment often involves a combination of approaches. Some cases of dystonia are hereditary.

Acquired dystonia can be the result of brain damage through an injury, such as lack of oxygen at birth, stroke, or another type of trauma. Acquired dystonia is also associated with exposure to certain medications or, rarely, heavy metals or carbon monoxide poisoning.

However, in many cases, dystonia is idiopathic, which means the cause is simply unknown. Health Home Conditions and Diseases. Facts about dystonia Although experts aren't exactly sure what causes dystonia, it is thought to be related to a problem in the part of the brain called the basal ganglia. Symptoms Symptoms may start slowly—you might notice that your handwriting is deteriorating. Types of dystonia There are different types of dystonia.

Each type is identified by which part of the body is affected: Hemidystonia affects a leg and arm on one side of the body. Multifocal dystonia affects at least two different parts of the body. Generalized dystonia affects areas all over the body or the entire body.

Focal dystonia affects one particular area of the body. Diagnosis Diagnosing dystonia is a multistep process because no particular test can give a definitive answer. Other tests used to help diagnose dystonia include: Genetic tests to look for known mutations linked to dystonia Tests to analyze blood, urine, and cerebrospinal fluid Testing that can eliminate other health conditions as the cause of your symptoms An EEG electroencephalography or EMG electromyography Treatment Doctors typically take an individualized approach and use a combination of methods to help you manage pain and reduce muscle spasms.

Symptoms usually start in the legs or arms, before spreading to other limbs and sometimes the upper part of the body. Dystonia that starts as an adult late-onset usually begins in the head, neck or one of the arms, and doesn't progress to affect other parts of the body. Generalised dystonia often begins around the time a child reaches puberty.

The symptoms usually begin in one of the limbs, before spreading to other parts of the body. The symptoms of this type of dystonia usually begin during childhood, between the ages of 6 and 16 years. The most common symptom is an abnormal, stiff way of walking. The sole of the foot can bend upwards or the foot may turn outwards at the ankle. Some people with dopa-responsive dystonia may also have muscle stiffness and spasms in their arms and torso. Myoclonus dystonia is a rare type of segmental dystonia that affects the muscles in the arms, neck and torso.

Segmental dystonia affects two or more connected parts of the body. It causes sudden "jerk-like" spasms myoclonus that are similar to the spasms someone has when they get an electric shock.

Paroxysmal dystonia is a rare type of dystonia, where muscle spasms and unusual body movements only occur at certain times. The sudden onset of symptoms is known as an attack. The symptoms of paroxysmal dystonia can be similar to the symptoms of an epileptic fit. However, during an attack, only your muscles will be affected. Unlike epilepsy , you won't lose consciousness and you'll remain fully aware of your surroundings.

Attacks can last from a few minutes to several hours. Cervical dystonia, also known as torticollis, is the most common form of dystonia. It's a type of focal dystonia where only one body part is affected that affects the neck muscles. Involuntary contractions and spasms in the neck muscles can range from mild to severe and cause your head and neck to twist or be pulled forwards, backwards or from side to side.

The symptoms of cervical dystonia can sometimes be relieved by touching your chin, neck or the back of your head. The reasons for this are unclear. Blepharospasm is a type of focal dystonia that causes the muscles around your eyes to spasm involuntarily. Uncontrollable eye closure is a common characteristic of blepharospasm. In the most severe cases, a person may be unable to open their eyes for several minutes, effectively making them blind for short periods of time.

Frequent blinking, eye irritation and sensitivity to light photophobia are also possible characteristics of blepharospasm. If you have blepharospasm, the pattern of your symptoms can change throughout the day. For example, you may have few or no symptoms when you wake up in the morning, but they may start to appear or get worse when you're tired or stressed. Although it isn't considered to be a dystonia, hemifacial spasm can cause similar symptoms, with repetitive twitching of the muscles on one side of the face, usually around the eyes and mouth.

It can respond well to botulinum toxin injections. Laryngeal dystonia is a type of focal dystonia that causes the muscles of the voice box larynx to spasm. Your voice can either sound "strangled" or very quiet and "breathy", depending on whether the muscles of your larynx spasm outwards or inwards. This makes handwriting difficult and uncomfortable. Other less well-known types of task-specific dystonia include:.

Oromandibular dystonia is a type of segmental dystonia that affects the lower facial muscles, tongue or jaw. It can cause a number of different facial distortions, including grimacing and lip pursing. The jaw can repeatedly open and close or pull outwards and upwards.

Tongue movements can be continuous or occur intermittently. In some cases, the symptoms of oromandibular dystonia only occur when your mouth is being used, such as while eating or talking. In other cases, the symptoms may be improved by talking or chewing.

If you have oromandibular dystonia, you may also have difficulty swallowing dysphagia. Dystonia with no obvious cause, or caused by a genetic mutation, is known as primary dystonia. If dystonia is a symptom of another condition, it's known as secondary dystonia. Most people with primary dystonia don't have an identified cause. A minority of cases are associated with genetic mutations, which usually begin in childhood. There are currently over 12 types or sub-types of dystonia linked to genetic mutations, including generalised dystonia, dopa-responsive dystonia and paroxysmal dystonia.

Read more about the different types of dystonia. The genes responsible for these types of dystonia are passed down through families in a pattern that's known as autosomal dominant. This means if you have one of these abnormal genes, there's a one in two chance your children will inherit that gene and develop dystonia.

Diagnosing dystonia isn't straightforward. It involves using a stepwise approach that starts by identifying the precise nature and specific features of your movement disorders. The specialist will try to identify which type of dystonia classification your movement disorders fall into, taking into consideration a number of factors, including:.

It's important to confirm whether you have primary or secondary dystonia to help determine the type of treatment you need. In primary dystonia, muscle spasms are the only symptom and there's no other associated condition.

Secondary dystonia is caused by an underlying health condition, injury or some other type of damage. If you have the typical signs of late-onset focal dystonia, you may not need to have specific investigations. Early signs of dystonia often are mild, occasional and linked to a specific activity. See your doctor if you're experiencing involuntary muscle contractions.

The exact cause of dystonia isn't known. But it might involve altered nerve-cell communication in several regions of the brain. Some forms of dystonia are inherited. Dystonia care at Mayo Clinic. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version.

Overview Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Comella C. Classification and evaluation of dystonia.