Segmental dystonia — where two or more connected regions of the body are affected. Cranial dystonia blepharospasm affecting the lower face and jaw or tongue is an example. Multifocal dystonia — where two or more regions of the body that aren't connected to each other, such as the left arm and left leg, are affected. Generalised dystonia — where the trunk and at least two other parts of the body are affected. The legs may or may not be affected. Hemidystonia — where one entire side of the body is affected.
Causes of dystonia Exactly how dystonia develops remains uncertain, but it's thought to be caused by a problem with the part of the brain that controls muscle movement the basal ganglia. Diagnosing dystonia Dystonia is diagnosed by a specialist examining and recognising the typical symptoms.
Treating dystonia There's no cure for dystonia, but the condition can usually be effectively managed. However, the four main types of treatment are: botulinum toxin — widely used to treat neurological conditions that involve abnormal muscle contractions, such as dystonia; it's injected into the affected muscles to temporarily weaken them and reduce spasms medication — such as anticholinergics, Baclofen and muscle relaxants physiotherapy — where exercises are used to improve range of motion and posture, and prevent muscle weakness surgery — if other treatments are unsuccessful, the nerves controlling the muscles causing spasms can be cut selective peripheral denervation , or electrodes can be implanted within the brain, which are connected to a small device that's similar to a pacemaker deep brain stimulation Read more about how dystonia is treated.
Outlook Dystonia is an unpredictable condition. Who is affected by dystonia? Dystonia is generally uncommon, although it's one of the more common neurological conditions. Symptoms of dystonia The symptoms of dystonia can vary, depending on the type of dystonia and when it develops. Early-onset dystonia Generalised dystonia Generalised dystonia often begins around the time a child reaches puberty.
Symptoms of generalised dystonia can include: muscle spasms having an abnormal, twisted posture a foot, leg or arm turning inwards body parts jerking rapidly Dopa-responsive dystonia Dopa-responsive dystonia is a type of generalised dystonia.
Myoclonus dystonia Myoclonus dystonia is a rare type of segmental dystonia that affects the muscles in the arms, neck and torso. Paroxysmal dystonia Paroxysmal dystonia is a rare type of dystonia, where muscle spasms and unusual body movements only occur at certain times. Certain situations or substances can trigger an attack of paroxysmal dystonia, including: stress fatigue alcohol coffee sudden movement Late-onset dystonia Cervical dystonia Cervical dystonia, also known as torticollis, is the most common form of dystonia.
Muscle spasms and contractions often cause neck pain and stiffness. Blepharospasm Blepharospasm is a type of focal dystonia that causes the muscles around your eyes to spasm involuntarily. Hemifacial spasm 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.
Laryngeal dystonia Laryngeal dystonia is a type of focal dystonia that causes the muscles of the voice box larynx to spasm. Oromandibular dystonia Oromandibular dystonia is a type of segmental dystonia that affects the lower facial muscles, tongue or jaw. Causes of dystonia Dystonia with no obvious cause, or caused by a genetic mutation, is known as primary dystonia.
Primary dystonia Most people with primary dystonia don't have an identified cause. Diagnosing dystonia Diagnosing dystonia isn't straightforward. The specialist will try to identify which type of dystonia classification your movement disorders fall into, taking into consideration a number of factors, including: how old you were when your symptoms started the order in which your symptoms developed the speed at which the condition is progressing the results of initial tests and investigations It's important to confirm whether you have primary or secondary dystonia to help determine the type of treatment you need.
Further tests If you have the typical signs of late-onset focal dystonia, you may not need to have specific investigations. These tests are described below: Your recent medical and family history will be discussed — for example, whether you've recently had a head injury , or whether you have a relative with dystonia. Urine and blood tests — to check how well your organs, such as your liver, are functioning and whether you have an infection or high levels of toxins in your body.
Genetic testing — a DNA sample can be taken from your blood and checked for the abnormal genes associated with some types of dystonia; genetic testing can also confirm whether your dystonia is caused by a genetic condition, such as Huntington's disease. A magnetic resonance imaging MRI scan — can check whether there's any damage to your brain, or whether you have a condition that's affecting your brain, such as a tumour. Treating dystonia There are a number of treatment techniques that can control the involuntary movements and spasms of dystonia, including medication, physiotherapy, and in some cases, surgery.
There are four main types of treatment for dystonia. They are: botulinum toxin medication physiotherapy surgery, including deep brain stimulation DBS Wherever possible, physiotherapy, medication or botulinum medication will be used to treat dystonia rather than surgery, particularly in the case of children and young people.
Each type of treatment is discussed in more detail below. Botulinum toxin Since being introduced into clinical practice in the late s, botulinum toxin has become an effective and widely used form of treatment for a number of different neurological conditions that involve abnormal muscle contractions, such as dystonia.
For example, injections: in the neck area may cause swallowing difficulties dysphagia around the eyes may lead to drooping of the eyes and double vision in the vocal cord may cause your voice to become soft and "breathy" These types of side effects should pass after about a week. Medication There are a number of different medications that can be used to treat dystonia.
Anticholinergics Anticholinergics are a type of medication that can be used to effectively treat all types of dystonia. Side effects of anticholinergics include: dry mouth constipation difficulties urinating blurred vision memory problems confusion Baclofen Baclofen is a medication that's sometimes used to treat spasticity excessive muscular tension caused by stroke or multiple sclerosis.
Common side effects of Baclofen include: kidney problems — seek medical advice if you develop symptoms such as sleepiness or lethargy lack of energy nausea — this may be reduced by taking Baclofen with food or milk drowsinesss balance and co-ordination problems confusion Muscle relaxants Muscle relaxants are sometimes used to treat cases of dystonia that fail to respond to other types of medication. Side effects of muscle relaxants include: drowsiness tiredness muscle weakness dizziness impaired co-ordination These side effects should be temporary and disappear once your body gets used to the medication.
Physiotherapy Physiotherapy uses specific exercises to help you maintain a full range of motion, improve your posture and prevent the shortening or weakening of affected muscles. Pain management Many people with certain types of dystonia experience pain, caused by spasms or repeated twisting of joints.
Speech and language therapy You may be referred to a speech and language therapist for certain types of dystonia, such as laryngeal dystonia, which causes difficulty speaking. Surgery Surgery may be recommended if your dystonia symptoms don't respond to botulinum toxin, medication or physiotherapy. Selective peripheral denervation Selective peripheral denervation is a type of surgery used to treat cervical dystonia.
However, possible complications include: infection in the neck short-term swelling of the neck a feeling of pins and needles in the neck occasional short episodes of neck pain. Tweet Click here to share this page on Twitter This will open a new window. Print Click here to print this page This will open your print options in a new window. Source: NHS 24 - Opens in new browser window. Last updated:. How can we improve this page? Email Address e. Symptoms may vary widely in type and severity even among members of the same family.
In some instances, people who inherit the defective gene may not develop dystonia. Having one mutated gene appears to be sufficient to cause the chemical imbalances that may lead to dystonia, but other genetic or even environmental factors may play a role.
Forms of dystonia for which the genetic cause is known include:. Recently, researchers have identified other genetic causes of dystonia, including one resulting from mutations in the DYT6 gene.
Dystonia caused by DYT6 mutations often presents as cranial dystonia, cervical dystonia, or arm dystonia. Rarely, a leg is affected at the onset. Many other genes that cause dystonic syndromes have been found, and numerous genetic variants are known. Some other important genetic causes of dystonia include mutations in the following genes: DYT3 , which causes dystonia associated with parkinsonism; DYT11 , which causes dystonia associated with myoclonus brief contractions of muscles ; DYT12 , which causes rapid onset dystonia associated with parkinsonism, and DYT28 , which is associated with childhood onset dystonia.
Acquired dystonia , also called secondary dystonia, results from environmental or other damage to the brain, or from exposure to certain types of medications. Some causes of acquired dystonia include birth injury including hypoxia, a lack of oxygen to the brain, and neonatal brain hemorrhage , certain infections, reactions to certain drugs, heavy metal or carbon monoxide poisoning, trauma, or stroke. Acquired dystonia often plateaus and does not spread to other parts of the body. Dystonia that occurs as a result of medications often ceases if the medications are stopped quickly.
Dystonia can be a symptom of other diseases, some of which may be hereditary. Dystonia can occur at any age, but genetic and idiopathic dystonia are often divided as either early, or childhood onset, versus adult onset.
Dystonia often progresses through various stages. Initially, dystonic movements may be intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed.
Dystonia can be associated with fixed postures and shortening of tendons. There are many different forms of dystonia. Common examples are:. Symptoms may worsen with fatigue, stress, or prolonged activity and improve with relaxation and rest. Some occur when specific actions trigger them. In some cases, they can worsen over time. A person may start with symptoms in one area that then spread to other parts of the body.
The length of time movements last can vary. Some last for seconds or minutes , while others continue for weeks or months. Cervical dystonia affects the muscles in the neck.
Symptoms can include :. Certain postures or positions can trigger symptoms, and they can worsen with stress or excitement. Touching the cheek or the back of the head may help relieve symptoms. Complications can arise, such as cervical spine arthritis, compression of nerve roots, and narrowing of the spinal cord in the neck. Some people experience severe pain.
Remission can occur, but it is usually temporary. This type affects the muscles around the eyes. At first, it may happen only from time to time, but some people develop a severe, long-term twitch. Here, learn more about eyelid twitching. Dopa-responsive dystonia usually starts in childhood. It gets its name from its treatment, as it responds well to levodopa, a medication that boosts dopamine production in the brain.
Starting from around age 6 , the person may have:. Generalized dystonia usually starts during the childhood or teenage years. It affects groups of muscles in different parts of the body. It usually starts in the trunk or limbs.
Symptoms include :. Hemifacial spasm affects muscles on one side of the face. Laryngeal dystonia causes spasms in the voice box larynx. It can affect voice quality, leading to hoarseness or interruptions in sound. For some, dystonia stabilizes at a relatively minor stage and progresses no further.
The advanced stage is marked by rapid and involuntary rhythmic movements, twisting postures, contortions of the torso, abnormal gait and ultimately, fixed postural deformities. The disorder is usually not associated with pain, but it certainly may lead to pain in affected areas. Cervical dystonia can be particularly painful due to degeneration of the spine, irritation of nerve roots or frequent headaches.
Limb dystonia may not cause pain initially but may become painful over time. Uncontrolled muscle movements may cause the joints to deteriorate, possibly leading to the onset of arthritis. Early signs of dystonia often are mild, infrequent and linked to a specific activity. See your doctor if you are experiencing involuntary muscle contractions. There is no definitive test for dystonia but doctors can make the diagnosis by learning about the symptoms and performing a neurological exam.
Sometimes doctors use other tests such as a brain MRI to make sure something else is not causing the symptoms. For patients with early-onset dystonia or those with an affected relative, doctors may suggest genetic testing. There is no cure for dystonia and treatment is therefore directed at relieving symptoms.
There is a three-tiered approach to treating dystonia: botulinum toxin botox injections, several types of medication and surgery. These may be used alone or in combination. Medications and botox can both help block the communication between the nerve and the muscle and may lessen abnormal movements and postures. Botulinum toxin type A was developed in the s.
In , the U. Food and Drug Administration approved botulinum toxin type B for treatment of cervical dystonia. Researchers created the new drug after some patients began developing resistance to the type A form. The type B drug has mild to moderate side effects such as dry mouth, dysphagia difficulty swallowing and indigestion. Surgical treatment may be considered if medications and other treatments are not providing adequate relief, and if the symptoms negatively affect quality of life.
The mainstay of surgical treatment for dystonia is deep brain stimulation DBS.
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