The importance of multiprofessional treatment of a patient with arthrogryposis: Case report

Authors

DOI:

https://doi.org/10.33448/rsd-v11i6.28954

Keywords:

Arthrogryposis; Rehabilitation; Patient care team.

Abstract

Arthrogryposis multiplex congenita (AMC) is a rare syndrome, defined by a set of non-progressive congenital malformations, accompanied by multiple rigid contractures. The etiology is not defined, its diagnosis is complex and 75% of the time it is performed late. Monitoring with the multidisciplinary team is essential, aiming at the well-being and quality of life of the patient. Physiotherapy should be started early, with the main objectives being functional acquisition, autonomy in performing activities of daily living, prevention of deformities and independent gait. The objective of this study is to report the case of a patient with AMC, as well as the importance of multiprofessional follow-up in the treatment, prevention, improvement and maintenance of quality of life. This is a case report, carried out in a Specialized Center for Craniofacial Anomalies, located in western Paraná, based on anamnesis, clinical and physical examination, interview with the person in charge and weekly appointments. A 13-year-old male patient has distal arthrogryposis multiplex congenita, which was diagnosed at 16 days of life. He started follow-up with physiotherapy since 45 days, and is currently being followed up with the multidisciplinary team of that center. The response of the proposed multiprofessional treatment plan was very positive, allowing the patient to overcome their difficulties, make adaptations to their activities of daily living, and have a better quality of life. It is important to emphasize the need for follow-up with a specialized multidisciplinary team, given the complexity of AMC.

References

Antúnez, N. H., González, C., Cerisola, A., Casamayou, D., Barros, G., Castellet, L. D., & Camarot, T. (2015). Artrogriposis múltiple congénita: análisis de los pacientes asistidos en el Centro de Rehabilitación Infantil Teletón Uruguay. Revista Médica del Uruguay, 31(1), 27-31.

Batista, K. T., Pereira, I. C. C., Monteiro, G. B., Correia, C. Z., & Correia, M. Z. (2019). Qualidade de vida de pacientes com artrogripose múltipla congênita após cirurgia e/ou reabilitação: revisão integrativa. Comunicação Ciências saúde. 30(3), 21-32.

Bayram, Y., Karaca, E., Akdemir, Z. C., Yilmaz, E. O., Tayfun, G. A., Aydin, H., ... & Lupski, J. R. (2016). Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. The Journal of clinical investigation, 126(2), 762-778.

Brás, R., Veloso, H., Moleiro, M., Rodrigues, S., Inocêncio, G., Mota, C., Soares, G., Rodrigues, M. C., & Braga, J. (2018). Arthrogryposis multiplex congenita affecting a monochorionic diamniotic twin pregnancy. Nascer e Crescer – Birth and Growth Medical Journal; 27(4): 253-257. Doi: 10.25753/BirthGrowthMj.v27.i4.13065.

Busack, B., Ott, C., Henrich, W., & Verlohren, S. (2021). Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita. Archieves of Gynecology and Obstetrics. 303(4), 943-953. https://doi.org/10.1007/s00404-020-05828-4.

Carvalho, E. D. F. (2019). Novas correlações fenótipo-genótipo com enfoque em artrogripose múltipla congênita e displasias esquelétic kkk as. Tese de doutorado em biotecnologia. Fortaleza – CE, 2019.

Cavalcante, A. D., Silva, J. A., Santana, A. F. S. G. (2021). Aspectos funcionais no tratamento fisioterapêutico da criança com artrogripose múltipla congênita: uma revisão integrativa. Trabalho de conclusão de curso (TCC) na fisioterapia. Repositório Institucional Tiradentes.

Ribas, S. A., Pinto, E. O., Rodrigues, C. B. (2013). Determinantes do grau de satisfação da dieta hospitalar: Ferramentas para prática clínica. Demetra: alimentação nutrição e saúde. Rio de Janeiro, 8(2), 137-148.

Filges, I., Tercanli, S., & Hall, J. G. (2019). Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. In America Journaç Medical Genetics Part C: Seminars in Medical Genetics (Vol. 181, N° 3, pp. 327-336). Hoboken, USA: John Wiley & Sons, Inc.

Hall, J. G., Kimber, E., & van Bosse, H. J. (2017). Genetics and classifications. Journal of Pediatric Orthopedics, 37, S4-S8.

Holanda, L. B., & de Azevedo Barros Filho, A. (2006). Métodos aplicados em inquéritos alimentares. Revista Paulista de Pediatria, 24(1), 62-70.

Kowalczyk, B., & Feluś, J. (2016). Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Archives of medical science: AMS, 12(1), 10.

Pollazzon, M., Caraffi, S. G., Faccioli, S., Rosato, S., Fodstad, H., Campos-Xavier, B., ... & Garavelli, L. (2021). Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis. Genes, v. 13, n. 1, p. 29.

Niehues, J. R., Gonzales, A. I., & Fraga, D. B. (2014). Intervenção fisioterapêutica na artrogripose múltipla congênita: uma revisão sistemática. Cinergis, 15(1).

Oliveira, D. K., Fernandes, B., dos Anjos, A. A., Hillary, S., Dal’Negro, D. C. B., Ferreira, B. L., ... & Futagami, R. B. (2021). Artrogripose Múltipla Congênita: Relato de dois casos. Medicina (Ribeirão Preto, Online).

Organização Mundial de Saúde - OMS (2007). Growth reference data for 5-19 years. Consultado em 30 de março de 2022, a partir de https://cdn.who.int/media/docs/default-source/child-growth/growth-reference-5-19-years/bmi-for-age-(5-19-years)/cht-bmifa-boys-perc-5-19years.pdf?sfvrsn=5aad7915_4.

Quintans, M. D. S., Barbosa, P. R., Lucena, B. (2017). Artrogripose múltipla congênita. Rev. Ped. SOPERJ, v. 17, n. 3, p. 23-27, out. 2017.

Rink, B. D. (2011). Arthrogryposis: a review and approach to prenatal diagnosis. Obstetrical & gynecological survey, 66(6), 369-377.

Singh, L. D., Singh, A. J., & Singh, L. N. (2020). Comprehensive Multidisciplinary Rehabilitation of Arthrogryposis Multiplex Congenita. Journal of Case Reports, 10(4), 208-213.

Tavares, F., Araújo, F., Santos, V., Silva, R., Seganfredo, I., & Pereira, N. (2013). Artrogripose múltipla congênita coexistente com puberdade precoce idiopática isossexual. Brasília méd.

Downloads

Published

22/04/2022

How to Cite

DIAS, R. L.; RODRIGUES, C. P. M.; GROSSKLAS, A. N.; KLAUCK, C. M. .; XAVIER, D. P. das N. .; LINDENBERG, J. M. .; VIEIRA, L. .; CRUZ, R. da S. .; MAGALHÃES, V. R. de .; ALBUQUERQUE, C. E. de . The importance of multiprofessional treatment of a patient with arthrogryposis: Case report. Research, Society and Development, [S. l.], v. 11, n. 6, p. e11811628954, 2022. DOI: 10.33448/rsd-v11i6.28954. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/28954. Acesso em: 22 nov. 2024.

Issue

Vol. 11 No. 6

Section

Health Sciences

License

Copyright (c) 2022 Rafael Luiz Dias; Célia Patrícia Müller Rodrigues; Aline Nardelli Grossklas; Caroline Maliska Klauck; Daniele Passos das Neves Xavier; Juliana Marques Lindenberg; Lizyana Vieira; Rosângela da Silva Cruz; Vanusa Rodrigues de Magalhães; Carlos Eduardo de Albuquerque

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:

1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.