A form of inherited dystonia that causes generalized dystonia. This form of dystonia begins in childhood, typically in a limb, and then progresses to involve much of the body. Not everyone who carries the gene develops the dystonia.
Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful.
There are different forms of dystonia that may affect only one muscle group, or muscles throughout the body. Dystonia can cause a large variety of involuntary movements. The neck may turn or pull involuntarily. The eyes may blink rapidly or close.
Some people have tremor or difficulty speaking due to a breathy or strained voice. Some people develop a foot cramp and then a tendency for the foot to turn or drag. Some dystonia manifests only when trying to do a specific task, such as involuntary movements that make writing, playing golf or playing a musical instrument difficult. Some patients develop generalized dystonia, in which many regions of the body are affected by movements.
The cause of dystonia is unknown. Some forms of dystonia are genetic and are inherited, but often there is no family history. Researchers are still trying to understand what causes dystonia, including how gene errors, called mutations, lead to the disease. We believe that dystonia results from problems in part of the brain that controls movement, called the basal ganglia. Sometimes infections, strokes or brain damage in this part of the brain can lead to dystonia. Researches think that defects in brain chemicals called neurotransmitters are causing the cells in the basal ganglia to not function normally, leading to dystonia.
There is no cure for dystonia, but treatments such as medications by mouth, injections with botulinum toxin and brain surgery can reduce dystonia and help you have a more normal life.
Source: NIH: National Institute of Neurological Disorders and Stroke
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