Distrofia Muscular Congénita Tipo 1A: O Papel da Reabilitação Multidisciplinar
DOI:
https://doi.org/10.46531/sinapse/CC/220030/2022Palavras-chave:
Distrofias Musculares/ congénita, Distrofias Musculares/ reabilitação, Lactente, Lamina/genéticaResumo
Merosinopathy is a subtype of muscular dystrophy with recessive autosomal transmission, resulting from an α2-chain-laminin/merosin deficiency. It affects around 1-9/ 1 000 000 individuals. Classically, it is subdivided in two phenotypic categories: one that is more common and severe, known as congenital muscular dystrophy type 1A, and a lesser common form of mild presentation. Congenital muscular dystrophy type 1A presents early with severe neonatal hypotonia and inability to stand and walk. Dysphagia, respiratory failure and scoliosis may also occur. There is no curative therapy, thereby the control and prevention of complications are the available approach. The authors present a case report of a congenital muscular dystrophy type 1A patient with a compound heterozygosity mutation presenting a global psychomotor development delay under multidisciplinary rehabilitation treatment.Downloads
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Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet. 2001;38:649-57. doi: 10.1136/ jmg.38.10.649.
Miyagoe-Suzuki Y, Nakagawa M, Takeda S. Merosin and congenital muscular dystrophy. Microsc Res Tech. 2000;48:181-91. doi: 10.1002/(SICI)1097-0029(20000201/15)48:3/4<181::AID-JEMT6>3.0.CO;2-Q.
Vajsar J, Chitayat D, Becker LE, Ho M, Ben Zeev B, Jay V. Severe classical congenital muscular dystrophy and merosin expression. Clin Genet. 1998;54:193-8. doi: 10.1111/j.1399-0004.1998.tb04283.x.
Sarkozy A, Foley AR, Zambon AA, Bonnemann CG, Muntoni F. LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. Front Mol Neurosci. 2020;13:123. doi:10.3389/fnmol.2020.00123
Nguyen Q, Lim KRQ, Yokota T. Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-alpha2 chain-deficient congenital muscular dystrophy. Appl Clin Genet. 2019;12:113-130. doi:10.2147/TACG.S187481
Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord. 2010;20:241-50. doi: 10.1016/j.nmd.2010.02.001.
Van Ry PM, Minogue P, Hodges BL, Burkin DJ. Laminin-111 improves muscle repair in a mouse model of merosindeficient congenital muscular dystrophy. Hum Mol Genet. 2014;23:383-96. doi:10.1093/hmg/ddt428
Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord. 2003;13:4-12. doi: 10.1016/ s0960-8966(02)00188-8.
Talim B, Kale G, Topaloglu H, Akçören Z, Caglar M, Gögü S, et al. Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy. Pediatr Dev Pathol. 2000;3:168-76. doi: 10.1007/s100240050021.
He Z, Luo X, Liang L, Li P, Li D, Zhe M. Merosin-deficient congenital muscular dystrophy type 1A: A case report. Exp Ther Med.2013;6:1233-6. doi:10.3892/etm.2013.1271
Ribeiro VT, Moreira NC, Teixeira J, Guimarães A, Cruz R, Lima L. Distrofia muscular congénita merosina positiva, anormalidades da substância branca e displasia cortical occipital posterior bilateral. Acta Med Port. 2003;16:189-92.
Rocha CT, Hoffman EP. Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies. Curr Neurol Neurosci Rep.2010;10:267-76. doi:10.1007/s11910-010-0119-1
Graf von Kalckreuth C, Deconinck N, Goedseels J, Neuman A. P289 – 2042 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A): a case report. Eur J Paediatr Neurol. 2013;17.doi:10.1016/s1090-3798(13)70468-9
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Direitos de Autor (c) 2024 Rui Moreira Sousa, Catarina Bernardes, Gonçalo Pires, Carla Vieira, Inês Cunha
Este trabalho encontra-se publicado com a Creative Commons Atribuição-NãoComercial 4.0.
