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Dilemma of presymptomatic testing in children with history of late onset neurodegenerative spinocerebellar ataxia in Indonesia

1Faculty of Medicine, Universitas Diponegoro, Indonesia

2Faculty of Psychology, Universitas Diponegoro, Indonesia

Received: 3 Dec 2021; Revised: 23 Feb 2022; Accepted: 20 Mar 2022; Available online: 28 Apr 2022; Published: 28 Apr 2022.
Open Access Copyright (c) 2022 Journal of Biomedicine and Translational Research
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Background: Spinocerebellar ataxia (SCA) is a late onset neurodegenerative disorder in which coordination and balance are affected. Although many international guidelines have been established regarding presymptomatic testing, it is still a grey area in Indonesia. We report two large families with advanced stages of SCA who underwent presymptomatic genetic testing in children along counseling process.

Case presentation: Thorough examination was performed, including pedigree construction, physical and neurological examination, gene mutation analyses for patients, and presymptomatic testing for family members, including children. SCA3/MJD1 gene mutation analysis was done in both cases, and a full penetrance CAG repeat expansion was found in both affected patients. Two different outcomes were observed in the offspring, who were both children. The risk and consequences of positive results had been explained in a counseling session to family members, who decided to keep the information until the child would have reached legally adult age.

Conclusions: In developing countries such as Indonesia, problems arose due to ethical issues, knowledge of genetic diseases, and inaccessible molecular diagnostics. Culture, religion and tribe diversities may create additional challenges. These cases emphasize the need for careful consideration of presymptomatic testing in children, especially in complicated situations where psychological and ethical issues should be addressed.

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Keywords: case report; genetic counseling; presymptomatic testing; spinocerebellar ataxia; Indonesia

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  1. Rossi M, Perez-Lloret S, Doldan L, Cerquetti D, Balej J, Millar Vernetti P, et al. Autosomal dominant cerebellar ataxias: A systematic review of clinical features. Eur J Neurol. 2014;21(4):607–15
  2. Kim JS, Cho JW. Hereditary Cerebellar Ataxias: A Korean Perspective. J Mov Disord [Internet]. 2015;8(2):67–75. Available from:
  3. Jayadev S, Bird TD. Hereditary ataxias: overview. Genet Med [Internet]. 2013;15(9):673–83. Available from:
  4. Paulson HL. The Spinocerebellar Ataxias. J Neuroophthalmol. 2009;29(3):227–37
  5. Paulson H. Machado-Joseph Disease/Spinocerebellar Ataxia Type 3. Handb Clin Neurol. 2012;103:437–49
  6. Orozco-Gutierrez MH, Cervantes-Aragon I, Garcia-Cruz D. Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias. Neurologia [Internet]. 2015; Available from:
  7. Sequeiros J, Martindale J, Seneca S. EMQN Best Practice Guidelines for molecular genetic testing of SCAs. Eur J Hum Genet. 2010;18(11):1173–6
  8. Mand C, Gillam L, Delatycki MB, Duncan RE. Predictive genetic testing in minors for late-onset conditions: A chronological and analytical review of the ethical arguments. J Med Ethics. 2012;38(9):519–24
  9. The Indonesian Ministry of Law and Human Rights. Law of The Republic of Indonesia Number 1 of 1974 on Marriage. 1974. p. 16
  10. Wakefield CE, Hanlon L V., Tucker KM, Patenaude AF, Signorelli C, McLoone JK, et al. The psychological impact of genetic information on children: A systematic review [Internet]. Vol. 18, Genetics in Medicine. Nature Publishing Group; 2016 [cited 2020 Sep 17]. p. 755–62. Available from:
  11. Hofstede G, Hofstede GJ, Minkov M. Cultures and Organizations: Software of The Mind Intercultural Cooperation and its Importance for Survival. Third edit. The McGraw-Hill Companies; 2010. 103–107 p
  12. Ministry of Health Republic Indonesia. Ministry of Health of Indonesia Regulation Number 290 Year 2008 on Medical Consent. 2008
  13. The Indonesian Ministry of Law and Human Rights. Law of The Republic of Indonesia Number 23 of 2002 on Protection of Children. 2002
  14. Borry P, Shabani M, Howard HC. Is There a Right Time to Know? The Right Not to Know and Genetic Testing in Children. J Law, Med Ethics. 2014;42(1):19–27
  15. Mand C, Gillam L, Duncan RE, Delatycki MB. “It was the missing piece”: Adolescent experiences of predictive genetic testing for adult-onset conditions. Genet Med. 2013;15(8):643–9
  16. Lim Q, McGill BC, Quinn VF, Tucker KM, Mizrahi D, Farkas Patenaude A, et al. Parents’ Attitudes toward Genetic Testing of Children for Health Conditions: A Systematic Review. Clin Genet [Internet]. 2017;n/a-n/a. Available from:
  17. Laurino MY, Leppig KA, Abad PJ, Cham B, Chu YWY, Kejriwal S, et al. A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia. J Genet Couns. 2018;27(1):21–32
  18. Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K. Presymptomatic and predictive genetic testing in minors: A systematic review of guidelines and position papers. Clin Genet. 2006;70(5):374–81

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