Endocrinological disorders in Duchenne Muscular Dystrophy: A case report

Authors

DOI:

https://doi.org/10.33448/rsd-v10i8.17773

Keywords:

Muscular Dystrophy; Duchenne Muscular Dystrophy; Endocrinology.

Abstract

Duchenne Muscular Dystrophy (DMD) is an inherited, autosomal recessive X-linked disease, affecting mainly males. There is progressive muscle impairment, starting with the proximal muscles of lower limbs, then reduction of upper limbs muscle strength and impairment of cardiac and respiratory muscles, with no curative therapy.  Thus, this is a case report of a patient with Duchenne Muscular Dystrophy, emphasizing the possible endocrinological effects that can manifest in this pathology. The best medication for the management of Duchenne Muscular Dystrophy is corticosteroid, which improves muscle strength, extending gait time, preserving the function of upper limbs, preventing scoliosis, reducing cardiomyopathy progression and delaying invasive ventilation need. However, this medication offers a range of adverse effects to these patients, making endocrinological care necessary, with the following objectives: monitoring growth, pubertal development, diagnosing hormonal deficiencies, providing replacement therapy when necessary and preventing the occurrence of adrenal crisis.

References

Annexstad, E. J., Lund-Petersen, I., & Rasmussen, M. (2014). Duchenne muscular dystrophy. Tidsskrift for Den Norske Legeforening, 134(14), 1361–1364. https://doi.org/10.4045/tidsskr.13.0836

Araujo, A. P. Q. C., Nardes, F., Fortes, C. P. D. D., Pereira, J. A., Rebel, M. F., Dias, C. M., Barbosa, R. de C. G. A., Lopes, M. V. R., Langer, A. L., Neves, F. R., & Reis, E. F. (2018). Brazilian consensus on duchenne muscular dystrophy. Part 2: Rehabilitation and systemic care. Arquivos de Neuro-Psiquiatria, 76(7), 481–489. https://doi.org/10.1590/0004-282x20180062

Bianchi, M. L., Morandi, L., Andreucci, E., Vai, S., Frasunkiewicz, J., & Cottafava, R. (2011a). Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment. Osteoporosis International, 22(2), 529–539. https://doi.org/10.1007/s00198-010-1275-5

Bianchi, M. L., Biggar, D., Bushby, K., Rogol, A. D., Rutter, M. M., & Tseng, B. (2011b). Endocrine Aspects of Duchenne Muscular Dystrophy. Neuromuscular Disorders, 21(4), 298–303. https://doi.org/10.1016/j.nmd.2011.02.006

Birnkrant, D. J., Bushby, K., Bann, C. M., Apkon, S. D., Blackwell, A., Brumbaugh, D., Case, L. E., Clemens, P. R., Hadjiyannakis, S., Pandya, S., Street, N., Tomezsko, J., Wagner, K. R., Ward, L. M., & Weber, D. R. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. The Lancet Neurology, 17(3), 251–267. https://doi.org/10.1016/S1474-4422(18)30024-3

Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., & Constantin, C. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology, 9(1), 77–93. https://doi.org/10.1016/S1474-4422(09)70271-6

Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987). Dystrophin: The protein product of the duchenne muscular dystrophy locus. Cell, 51(6), 919–928. https://doi.org/10.1016/0092-8674(87)90579-4

Kunkel, L. M. (1986). Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature, 322(6074), 73–77. https://doi.org/10.1038/322073a0

Leung, D. G., Germain-Lee, E. L., Denger, B. E., & Wagner, K. R. (2011). Report on the second endocrine aspects of duchenne muscular dystrophy conference December 1-2, 2010, Baltimore, Maryland, USA. Neuromuscular Disorders, 21(8), 594–601. https://doi.org/10.1016/j.nmd.2011.04.008

Moat, S. J., Bradley, D. M., Salmon, R., Clarke, A., & Hartley, L. (2013). Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK). European Journal of Human Genetics, 21(10), 1049–1053. https://doi.org/10.1038/ejhg.2012.301

Parente, R. C. M., Oliveira, M. A. P. De, & Celeste, R. K. (2012). Relatos e Série de Casos na Era da Medicina Baseada em Evidência. Brazilian Journal Os Videoendoscopic Surgery, 3, 67–70. http://www.sobracil.org.br/revista/jv030302/bjvs030302_063B.pdf

Pereira A. S. et al. (2018). Metodologia da pesquisa científica. UFSM.

Salera, S., Menni, F., Moggio, M., Guez, S., Sciacco, M., & Esposito, S. (2017). Nutritional Challenges in Duchenne Muscular Dystrophy. Nutrients, 9(6), 594. https://doi.org/10.3390/nu9060594

Suthar, R., & Sankhyan, N. (2018). Duchenne Muscular Dystrophy: A Practice Update. The Indian Journal of Pediatrics, 85(4), 276–281. https://doi.org/10.1007/s12098-017-2397-y

Ward, L. M., Hadjiyannakis, S., McMillan, H. J., Noritz, G., & Weber, D. R. (2018). Bone Health and Osteoporosis Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics, 142(Supplement 2), S34–S42. https://doi.org/10.1542/peds.2018-0333E

Ward, L. M., & Weber, D. R. (2019). Growth, pubertal development, and skeletal health in boys with Duchenne Muscular Dystrophy. Current Opinion in Endocrinology & Diabetes and Obesity, 26(1), 39–48. https://doi.org/10.1097/MED.0000000000000456

Weber, D. R., Hadjiyannakis, S., McMillan, H. J., Noritz, G., & Ward, L. M. (2018a). Obesity and endocrine management of the patient with Duchenne muscular dystrophy. Pediatrics, 142(October 2018), S43–S52. https://doi.org/10.1542/peds.2018-0333F

Weber, D. R., Thomas, S., Erickson, S. W., Fox, D., Oleszek, J., Pandya, S., Venkatesh, Y., Westfield, C., & Ciafaloni, E. (2018b). Bone Health and Endocrine Care of Boys with Duchenne Muscular Dystrophy: Data from the MD STARnet. Journal of Neuromuscular Diseases, 5(4), 497–507. https://doi.org/10.3233/JND-180317

Werneck, L. C., Lorenzoni, P. J., Ducci, R. D. P., Fustes, O. H., Kay, C. S. K., & Scola, R. H. (2019). Duchenne muscular dystrophy: An historical treatment review. Arquivos de Neuro-Psiquiatria, 77(8), 579–589. https://doi.org/10.1590/0004-282X20190088

Wood, C. L., Straub, V., Guglieri, M., Bushby, K., & Cheetham, T. (2016). Short stature and pubertal delay in Duchenne muscular dystrophy. Archives of Disease in Childhood, 101(1), 101–106. https://doi.org/10.1136/archdischild-2015-308654

Yin, R. K. (2015). O estudo de caso. Bookman

Yiu, E. M., & Kornberg, A. J. (2015). Duchenne muscular dystrophy. Journal of Paediatrics and Child Health, 51(8), 759–764. https://doi.org/10.1111/jpc.12868

Published

17/07/2021

How to Cite

BONILHA, G. S. .; RANZAN, I. C. .; PESCADOR, M. V. B. . Endocrinological disorders in Duchenne Muscular Dystrophy: A case report. Research, Society and Development, [S. l.], v. 10, n. 8, p. e54910817773, 2021. DOI: 10.33448/rsd-v10i8.17773. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/17773. Acesso em: 22 nov. 2024.

Issue

Section

Health Sciences