Many other genes that cause dystonic syndromes have been found, and numerous genetic variants are known. 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.
People with this disorder have dramatic improvements in symptoms after treatment with levodopa, a medication commonly used to treat Parkinson’s disease. Symptoms characteristically fluctuate and are worse late in the day and after exercise. Some forms of DRD are due to mutations in the DYT5 gene. Individuals with DRD typically experience onset during childhood and have progressive difficulty with walking. Dopa-responsive dystonia (DRD), also known as Segawa’s disease, is another form of dystonia that can have a genetic cause.Because the gene’s effects are so variable, some people who carry a mutation in the DYT1 gene may not develop dystonia. DYT1 dystonia is a rare form of dominantly inherited generalized dystonia that can be caused by a mutation in the DYT1 gene. It typically begins in childhood, affects the limbs first, and progresses, often causing significant disability.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.įorms of dystonia for which the genetic cause is known include: Symptoms may vary widely in type and severity even among members of the same family. There are several genetic causes of dystonia. Many instances of dystonia are idiopathic. Idiopathic dystonia refers to dystonia that does not have a clear cause. The dystonias can be divided into three groups: idiopathic, genetic, and acquired. There also may be abnormalities in the way the brain processes information and generates commands to move. In most cases, no abnormalities are visible using magnetic resonance imaging or other diagnostic imaging. There may be abnormalities in the brain’s ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. Researchers believe that dystonia results from an abnormality in or damage to the basal ganglia or other brain regions that control movement. Top What do researchers know about dystonia? For example, a musician may have dystonia when using a hand to play an instrument, but not when using the same hand to type.ĭystonia may cause pain due to muscle contractions but typically is not associated with problems thinking or understanding. In some cases, dystonia can affect only one specific action, while allowing others to occur unimpeded. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over time, the symptoms may become more noticeable or widespread sometimes, however, there is little or no progression. both eyes might blink rapidly and uncontrollably other times, spasms will cause the eyes to close.the neck may turn or pull involuntarily, especially when the person is tired or under stress.a worsening in handwriting after writing several lines.
a foot cramp or a tendency for one foot to turn or drag-either sporadically or after running or walking some distance.Some forms of dystonia are genetic but the cause for most cases is not known.ĭystonia can affect many different parts of the body and the symptoms are different depending upon the form of dystonia. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. The movements may be painful, and some individuals with dystonia may have a tremor or other neurological symptoms. What are the different forms of dystonia?ĭystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures.
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