Classification and evaluation of dystonia. Accessed Sept. Flint PW, ed. Neurologic disorders of the larynx. Philadelphia, Pa. Jinnah HA, et al. Diagnosis and treatment of dystonia. Neurologic Clinics. Comella C. Treatment of dystonia. Frontera WR, et al. Cervical dystonia. Yanoff M, et al. Essential blepharospasm. In: Ophthalmology. Idiopathic dystonia refers to dystonia that does not have a clear cause.
Many instances of dystonia are idiopathic. There are several genetic causes of dystonia. 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. It involves inserting a small device, similar to a pacemaker, under the skin of your chest or tummy.
The device sends electrical signals along wires placed in the part of the brain that controls movement. Read more on deep brain stimulation from Dystonia UK. Dystonia affects people in different ways. The severity of symptoms can vary from one day to another. It's usually a lifelong condition. It may get worse for a few years but then remain steady. It can affect voice quality, leading to hoarseness or interruptions in sound. It may become difficult for a person to speak.
Oromandibular dystonia involves spasms in muscles of the mouth, tongue, and jaw. The person may repeatedly open and close their jaw or protrude their tongue. These types can cause painful cramps in specific parts of the body and only occur while doing that activity. Paroxysmal dystonia can cause tremor, pain, and twisting of the body, limbs, or face. It can resemble a seizure, but the person does not lose awareness or sensation. It can last from a few minutes to several hours.
Triggers include stress, fatigue, consuming coffee or alcohol, and sudden movements. It usually starts in the teenage years. Doctors use different ways of classifying dystonias. NORD notes that the different approaches can confuse people. It has called for a standard way of classifying dystonias. Dystonia can result from genetic or environmental factors. Genetic changes may be present from birth and are sometimes inherited. Different genetic factors can affect the balance of chemicals in ways that can lead to different types of dystonia.
Problems with the basal ganglia — a part of the brain that controls involuntary movements — appear to account for some types of dystonia.
However, some researchers say this does not explain all the types of dystonia and suggest that other brain regions may be involved. A doctor will start by asking the person about their symptoms and carrying out a physical examination. The doctor may also carry out tests to see if there is an underlying cause.
Possible tests include:. It can take several years to get a correct diagnosis of dystonia. The treatment for dystonia will depend on the cause and type.
There is currently no cure, but the following medications may help relieve symptoms. Can Botox help with cervical dystonia? Physical therapy can help a person manage their posture. They may also learn some physical tricks that can help relieve the symptoms of some types of dystonia.
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