HomeScientific Augustinianvol. 11 no. 1 (2021)

“Lubag”, X-Linked Dystonia Parkinsonism: What It Was, What It Is and What Can Be Hope For

Edda Brenda S. Yerro | Glenda S Paguntalan | Prency D. Yerro

 

Abstract:

The paper looks into literatures related to dystonia or sex-linked dystonia-parkinsonism. It tries to put into perspective the different aspects of the disorder; from the beliefs of those who are within the immediate vicinity of the afflicted person, the observed symptoms, explanations on how one gets afflicted to the latest medical and available pharmaceutical therapy. It aims to shine some light on the struggle of the affected person and their family, not just from dealing with the disease physically and medically but also from the emotional stress brought about by the rumors of their unaware neighbors and even relatives. Furthermore, it aspires to share knowledge to elevate consciousness among those who are concerned and offer even a little hope to those who are affected. To let them know that efforts are being done on their behalf; that there are organizations they can approach committed to helping them. Most importantly, some people have dedicated their lives studying the disease not just to alleviate their symptoms but to help improve their quality of life.



References:

1. Aguilar, J. A., Vesagas, T. S., Jamora, R. D., Teleg, R. A., Ledesma, L., Rosales, R. L., Fernandez, H. H., & Lee, L. V. (2011). The promise of deep brain stimulation in X-linked dystonia parkinsonism. International Journal of Neuroscience, 121(SUPPL. 1), 57–63. https://doi.org/10.3109/00207454.2010.541573
2. Aneichyk, T., Hendriks, W. T., Yadav, R., Shin, D. Gao, D., Vaine, C. A., Collins, R. L., Domingo, A., Currall, B., Stortchevoi, A., Multhaupt-Buell, T., Penney, E. B., Cruz, L., Dhakal, J., Brand, H., Hanscom, C., Antolik, C., Dy, M., Ragavendran,
3. A.,  Talkowski, M. E. (2018). Dissecting the Caual Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell, 172(5), 897902.e21. https://doi.org/10.1016/j.cell.2018.02.011
4. Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O’Sullivan, C. K., Resta, R. G., Lochner-Doyle, D., Markel, D. S., Vincent, V., & Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. Journal of Genetic Counseling. https://doi.org/10.1007/BF01408073
5. Blood, A. J., Waugh, J. L., Münte, T. F., Heldmann, M., Domingo, A., Klein, C., Breiter, H. C., Lee, L. V., Rosales, R. L., & Brüggemann, N. (2018). Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. NeuroImage: Clinical, 17(March 2017), 835–846. https://doi.org/10.1016/j.nicl.2017.10.025
6. Bombo Radyo Philippines. (2018). Abogadong nagbisikleta para sa awareness sa sakit na dystonia , dumating na sa Aklan mula Maynila. https://www.bomboradyo.com/roxas/capizeno-lawyer-nga-may-dystonia-nakalab-ot-na-sa-capiz-pinaagi-sa-pagbisikleta/
7. Bragg, D. C., Mangkalaphiban, K., Vaine, C. A., Kulkarni, N. J., Shin, D., Yadav, R., Dhakal, J., Ton, M.-L., Cheng, A., Russo, C. T., Ang, M., Acuña, P., Go, C., Franceour, T. N., Multhaupt-Buell, T., Ito, N., Müller, U., Hendriks, W. T., Breakefield, X. O., … Ozelius, L. J. (2017). Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. Proceedings of the National Academy of Sciences, 114(51), E11020–E11028. https://doi.org/10.1073/pnas.1712526114
8. Cheah, V. (2017). Lubag Syndrome ( X - linked Dystonia Parkinsonism ) Case Study of Mr G . Infante. 27(1), 7–10.
9. Clark, J. (2018). The truth about the ASWANG in Capiz.
10. Dystonia Medical Research Foundation. (2018). X-linked dystonia-parkinsonism / Lubag.
11. Evidente, V. G. H., Advincula, J., Esteban, R., Pasco, P., Alfon, J. A., Natividad, F. F., Cuanang, J., San Luis, A., Gwinn-Hardy, K., Hardy, J., Hernandez, D., & Singleton, A. (2002). Phenomenology of “Lubag” or X-linked dystonia-parkinsonism. Movement Disorders, 17(6), 1271–1277. https://doi.org/10.1002/mds.10271
12. Genetics Home Reference. (2018). TAF1 gene.
13. Goto, S., Kawarai, T., Morigaki, R., Okita, S., Koizumi, H., Nagahiro, S., Munoz, E. L., Lee, L. V., & Kaji, R. (2013). Defects in the striatal neuropeptide y system in X-linked dystonia-parkinsonism. Brain, 136(5), 1555–1567. https://doi.org/10.1093/brain/awt084
14. Hollox, M. J. E., Kivisild, M. H. T., & Tyler-Smith, C. (2014). Human Evolutionary Genetics. In Garland Science. Garland Science. https://doi.org/10.1016/B978-0-08-097086-8.82020-
15. Jamora, R. D. G., Cenina, A. R. F., Teleg, R. A., & Lee, L. V. (2018). Suicidality among patients with sex-linked dystonia-parkinsonism ( XDP ) Suicidality among Patients with Sex-linked Dystonia-Parkinsonism ( XDP ). Acta Medica Philippina, 49(January 2015), 20–23.
16. Kawarai, T., Morigaki, R., Kaji, R., & Goto, S (2016). No Title. Journal of the Philippine Medical Association, 95(1), 91–101.
17. Kawarai, T., Morigaki, R., Kaji, R., & Goto, S (2017). Clinicopathological phenotype and genetics of X-linked dystonia-parkinsonism (XDP; DYT3; Lubag). Brain Sciences, 7(7),113. https://doi.org/10.3390/brainsci7070072
18. Kupke, K. G., Graeber, M. B., & Müller, U. (1992). Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. American Journal of Human Genetics, 50(4), 808–815.
19. Lee, Lillian V., Maranon, E., Demaisip, C., Peralta, O., Borres-Icasiano, R., Arancillo, J., Rivera, C., Munoz, E., Tan, K., & Reyes, M. T. (2002). The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP)*. Parkinsonism and Related Disorders, 9(1), 29–38. https://doi.org/10.1016/S1353-8020(02)00042-1
20. Lee, L V, Munoz, E. L., Tan, K. T., & Reyes, M. T (2001). Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP). Molecular Pathology : MP, 54(6), 362–368.
21. Lee, L V, Pascasio, F. M., Fuentes, F. D., & Viterbo, G. H. (1976). Torsion dystonia in Panay, Philippines. Advances in Neurology, 14(1976), 137–151.
22. Lee, Lillian V, Rivera, C., Teleg, R. A., & Dantes, M. B. (2018). The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism ( XDP , DYT3 ,. 121, 1–6. https://doi.org/10.3109/00207454.2010.526728
23. Lewis. (2009). Human Genetics : Concepts and Applications (9th ed.). McGraw−Hill Primis.
24. Longos J.A. and Vatanagul, A. (2015). Botulinum a toxin injection in two Filipino brothers with X-Linked dystonia parkinsonism (XDP) in Cebu City, Philippines: A case report. Journal of the Neurological Sciences, 357(15), e275.
25. National Institute of Neurological Disorders and Stroke. (2018). Dystonias Fact Sheet What is dystonia ?
26. National Organization for Rare Disorders. (2018). Dystonia Synonyms of Dystonia.
27. Németh, A. H. (2002). The genetics of primary dystonias and related disorders. Brain, 125(4), 695–721. https://doi.org/10.1093/brain/awf090
28. Plummer, C., Bradfield, J., Singleton, A. B., Hernandez, D., Singleton, A. A., & O’sullivan, J. (2005). First case report of X linked dystonia parkinsonism (XDP) or “lubag” in Australia. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 12(8), 945–946. https://doi.org/10.1016/j.jocn.2004.10.012
29. Reyes, R. O. (2018). Capiz lawyer-poet bikes to end.
30. Rosales, R. L. (2010). X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics. Journal of Movement Disorders, 3(2), 32–38. https://doi.org/10.14802/jmd.10009
31. Rosales, R. L. (2018a). Dystonia, Spasticity and Botulinum Toxin Therapy: Rationale, Evidences and Clinical Context. Intech Open, 2, 64. https://doi.org/10.5772/32009
32. Rosales, R. L. (2018b). X-Linked Dystonia Parkinsonism : Clinical Phenotype , Genetics and Therapeutics. 3(2), 32–38. https://doi.org/10.14802/jmd.10009
33. Tan, T. A. (2018). Panay Dystonia : Is It God ’ s Curse ?
34. The Dystonia Society. (2018). Dystonia and mental health.
35. The portal for rare diseases and orphan drugs. (2013). The portal for rare diseases and orphan drugs Pudendal neuralgia.
36. Tronnier, V. M., Domingo, A., Moll, C. K., Rasche, D., Mohr, C., Rosales, R., Capetian, P., Jamora, R. D., Lee, L. V., Münchau, A., Diesta, C. C., Tadic, V., Klein, C., Brüggemann, N., & Moser, A. (2015). Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism. Parkinsonism and Related Disorders, 21(8), 954–959. https://doi.org/10.1016/j.parkreldis.2015.06.010
37. Waters, C. H., Faust, P. L., Powers, J., Vinters, H., Moskowitz, C., Nygaard, T., Hunt, A. L., & Fahn, S. (1993). Neuropathology of lubag (x‐linked dystonia parkinsonism). Movement Disorders, 8(3), 387–390. https://doi.org/10.1002/mds.870080328
38. Waters, C. H., Takahashi, H., Wilhelmsen, K. C., Shubin, R., Snow, B. J., Nygaard, T. G., Moskowitz, C. B., Fahn, S., & Calne, D. B. (1993). Phenotypic expression of X-linked dystonia-parkinsonism (lub