Dystonia with parkinsonism Quick Start (Rapid onset dystonia parkinsonism) - Gen ATP1A3.
Dystonia with parkinsonism Quick Start is a rare movement disorder, with the abrupt onset of signs and symptoms over a period of hours to days. Parkinsonism may include tremor, bradykinesia, rigidity, postural instability and shuffling walk that puedeprovocar recurrent falls. This disease causes abnormal movements that can make it difficult to walk, talk and perform other activities of daily life. Dystonia affects the arms and legs, causing muscle cramps and spasms. Often affects the facial muscles leading to problems with speech and swallowing. In those affected, motion abnormalities tend to start at the top of the body and move down, affecting facial muscles, then arms and finally the legs first.
In general, the signs and symptoms appear more frequently in adolescence or early adulthood. In some people, signs and symptoms may be caused by infection, physical stress, emotional stress or alcohol. Signs and symptoms tend to stabilize in about a month, but usually do not improve much. In some people the abnormal movements worsen sharply for a second episode or several years later. Some individuals with dystonia with parkinsonism rapid onset have been diagnosed with anxiety, social phobias, depression and seizures. It is unclear whether these changes are related to genetic changes that lead to disease.
This process is due to mutations in the gene ATP1A3, located on the long arm of chromosome 19 (19q13.31). This gene, encoding the alpha-3 subunit of a protein known as Na + / K + ATPase or sodium pump. This protein uses the energy of a molecule called adenosine triphosphate (ATP) for transporting ions between the inside and outside of cells. Specifically, pumps sodium ions (Na +) on the outside of the cell and potassium ions (K +) inside cells. The Na + / K + ATPase including alpha 3 subunit are found primarily in neurons and are critical to their normal function. The movement of ions of sodium and potassium helps regulate the electrical activity of these cells and plays an important role in the signaling process that controls muscle movement. The activity of Na + / K + ATPase also helps regulate cell volume. In addition, Na + / K + ATPase helps regulate a process called neurotransmitter reuptake. After a neurotransmitter has had its effect, it must be removed rapidly from the space between neurons. The neurotransmitter reuptake is carefully controlled to ensure that signals are sent and received accurately throughout the nervous system.
They have identified at least 9 ATP1A3 gene mutations in individuals and families with dystonia with parkinsonism rapidly evolving. Most of these mutations change the amino acids in alpha 3 subunit of Na + / K + ATPase. Changes in protein structure can reduce its activity or cause unstable. Probably the Na + / K + ATPase defective incapable of transporting sodium ion normally, which interrupts the electrical activity of neurons in the brain. However, it is not clear how a malfunction of Na + / K + ATPase causes abnormalities in the characteristics of dystonia parkinsonism movement rapidly evolving.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell ATP1A3 is sufficient for alteration is expressed. In most cases, an affected person inherits a mutation from an affected parent. Other cases are due to new mutations in the gene and occur in people with no history of disease in your family. Some people with mutations in the gene ATP1A3 do not develop signs and symptoms of dystonia with parkinsonism rapidly evolving. It is not clear why some people with a mutation in the gene ATP1A3 have abnormal movements, and others not.
Tests in IVAMI: in IVAMI perform detection of mutations associated with dystonia parkinsonism rapidly evolving by complete PCR amplification of exons ATP1A3 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).