Dystonia is a movement disorder that causes involuntary muscle contractions. These contractions result in twisting and repetitive movements. Dystonia can affect just one muscle, a group of muscles or all muscles of patients. Symptoms can include tremors, voice problems or a dragging foot. Dystonia often start in childhood, but can also start in the late teens or early adulthood. In some cases, dystonia can worsen over time. Researchers believe that dystonia may be due to problems in the part of the brain that handles messages about muscle contractions. There is no cure till now.
There are 25 different genes related to dystonia been found They can be divided into two types: the isolated dystonia gene and the combined dystonia gene. TOR1A, THAP1 and GNAL are typical isolated dystonia genes. ATPases encoded by TOR1A are associated with a variety of cellular activities, and considered to function as molecular chaperons. The mutations of 904-906 GAG cause the disability of the ATPases, and are mainly caused by early-onset generalized dystonia. The THAP1 gene has about 100 different mutations that cause transcription factor failure. GNAL has about 30 different mutations which can cause signal transduction disorder and lead to segmental dystonia in adults. Typical combined dystonia genes like GCH1, ATP1A3 and SGCE also cause different kinds of dystonia in different ways. Rate-limiting enzyme encoded by GCH1 works in the biosynthesis of tetrahydrobiopterin. The study found more than 100 different mutations in GCH1 cause dopa-responsive dystonia. ATP1A3 is catalytic subunit of an ionic pump. Mutations in ATP1A3 lead to the occurrence of rapid-onset dystonia-parkinsonism. SGCE has been found about 80 different mutations, which can stop its functions of transmembrane protein and perhaps these mutations affect other functions we have never known. Latest research has found some new genes that have strong relationship with dystonia, like KMY2B and VAC14.
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