Rapid-onset dystonia parkinsonism
Última actualización 23 Abr 2024
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Rapid-onset dystonia parkinsonism (sometimes referred to as RDP) is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterised by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause falls.
Descripción
Rapid-onset dystonia parkinsonism (sometimes referred to as RDP) is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterised by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause falls.
Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In people with this disorder, dystonia affects the arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. People with rapid-onset dystonia and parkinsonism may also have headaches; seizures; a distorted view of reality (psychosis); or difficulty processing, learning, and remembering information (cognitive impairment).
The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward. They affect the facial muscles first, then the arms, and finally the legs.
The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear in adolescence or young adulthood. In some affected individuals, signs and symptoms can be triggered by an infection, physical stress (such as prolonged exercise), emotional stress, or alcohol consumption. The signs and symptoms tend to stabilize within about a month, but they typically do not improve much after that. In some people with this condition, the movement abnormalities abruptly worsen during a second episode several years later.
Some people with rapid-onset dystonia parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant+Inherited or new variant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Dystonia 12
DYT12
RDP
RODP
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Distonía
A dystonia is a lasting or frequently recurring and unwanted (involuntary) muscle contraction. It can affect one or more muscles in the body. There is no cure; however, there are different types of treatment which can help. Secondary dystonia Secondary... It is not caused by your genetic make-up. Some neurological conditions can cause dystonia.
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Medicamentos antipsicóticos
This appears to be a particular problem with some of ... Movement disorders develop in some cases. These include: Parkinsonism - this can cause symptoms similar to those that occur in people with Parkinson disease - for example, tremor and músculo stiffness. Akathisia - this is like a restlessness of the legs. Dystonia - this means abnormal.
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For example, fixed torticollis that is muscular can arise du... Fixed torticollis can also arise due to incorrect development or fusion of the vertebra (neck bones) in babies. Cervical dystonia Cervical dystonia (also known as spasmodic torticollis) is a problem where abnormal movements develop in the muscles of the neck. It occurs most frequently.
Lecturas adicionales y referencias
- Rapid-onset dystonia parkinsonism; MedlinePlus, National Library of Medicine.
- Brashear A, Butler IJ, Ozelius LJ, Kramer PI, Farlow MR, Breakefield XO, Dobyns WB. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998;78:335-9. No abstract available.
- Brashear A, DeLeon D, Bressman SB, Thyagarajan D, Farlow MR, Dobyns WB. Rapid-onset dystonia-parkinsonism in a second family. Neurology. 1997 Apr;48(4):1066-9. doi: 10.1212/wnl.48.4.1066.
- Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4.
- Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord. 1996 Mar;11(2):151-6. doi: 10.1002/mds.870110206.
- Brashear A, Sweadner KJ, Haq I, Napoli E, Ozelius L. ATP1A3-Related Disorder. 2008 Feb 7 [updated 2024 Dec 5]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1115/
- de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. doi: 10.1016/j.neuron.2004.06.028.
- Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO. Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec;43(12):2596-602. doi: 10.1212/wnl.43.12.2596.
- Haq IU, Snively BM, Sweadner KJ, Suerken CK, Cook JF, Ozelius LJ, Miller C, McCall WV, Whitlow CT, Brashear A. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. Mov Disord. 2019 Oct;34(10):1528-1536. doi: 10.1002/mds.27801. Epub 2019 Jul 30.
- Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C. Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):860-2. doi: 10.1136/jnnp.2004.046730.
- Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999 Aug;46(2):176-82. doi: 10.1002/1531-8249(199908)46:23.0.co;2-2.
- Pittock SJ, Joyce C, O'Keane V, Hugle B, Hardiman MO, Brett F, Green AJ, Barton DE, King MD, Webb DW. Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. Neurology. 2000 Oct 10;55(7):991-5. doi: 10.1212/wnl.55.7.991.
- Zaremba J, Mierzewska H, Lysiak Z, Kramer P, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. Mov Disord. 2004 Dec;19(12):1506-10. doi: 10.1002/mds.20258.
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