Case 37 - Becker Muscular Dystrophy (BMD)
from Myopathies
Published online by Cambridge University Press: 29 November 2024
Summary
A 23-year-old man gradually noticed slowly progressive difficulty running and climbing stairs and therefore he was referred. In retrospect, he had a hollow back since age 10, and when running, he had had difficulty keeping up with his peers. He had a younger brother with similar complaints. Serum CK activity was elevated (15 × ULN). EMG, which had been carried out by the referring neurologist, showed small motor unit action potentials.
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- Neuromuscular DiseaseA Case-Based Approach, pp. 176 - 179Publisher: Cambridge University PressPrint publication year: 2024
References
Suggested Reading
Darras, BT, Urion, DK, Ghosh, PS. Dystrophinopathies. 2000 Sep 5 [updated 2022 Jan 20]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301298.Google Scholar
Fratter, C, Dalgleish, R, Allen, SK, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet 2020;28(9):1141–1159. doi: 10.1038/s41431-020-0643-7. Epub 2020 May 18. PMID: 32424326; PMCID: PMC7608854.CrossRefGoogle ScholarPubMed
Papa, AA, D’Ambrosio, P, Petillo, R, Palladino, A, Politano, L. Heart transplantation in patients with dystrophinopathic cardiomyopathy: review of the literature and personal series. Intractable Rare Dis Res 2017;6(2):95–101. doi: 10.5582/irdr.2017.01024. PMID: 28580208; PMCID: PMC5451754.CrossRefGoogle ScholarPubMed
Straub, V, Guglieri, M. An update on Becker muscular dystrophy. Curr Opin Neurol 2023;36(5):450–454. doi: 10.1097/WCO.0000000000001191. Epub 2023 Aug 21. PMID: 37591308; PMCID: PMC10487383.CrossRefGoogle ScholarPubMed
Tasca, G, Iannaccone, E, Monforte, M, et al. Muscle MRI in Becker muscular dystrophy. Neuromuscul Disord 2012;22 Suppl 2:S100-6. doi: 10.1016/j.nmd.2012.05.015. PMID: 22980760.CrossRefGoogle ScholarPubMed
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