Distrofia Muscular Congénita Tipo 1A: O Papel da Reabilitação Multidisciplinar

Autores

  • Rui Moreira Sousa Serviço de Medicina Física e de Reabilitação / Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal https://orcid.org/0000-0001-8512-5635
  • Catarina Bernardes Serviço de Neurologia / Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
  • Gonçalo Pires Serviço de Medicina Física e de Reabilitação / Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal
  • Carla Vieira Serviço de Medicina Física e de Reabilitação / Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal
  • Inês Cunha Serviço de Medicina Física e de Reabilitação / Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal

DOI:

https://doi.org/10.46531/sinapse/CC/220030/2022

Palavras-chave:

Distrofias Musculares/ congénita, Distrofias Musculares/ reabilitação, Lactente, Lamina/genética

Resumo

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.

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Referências

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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Publicado

2024-04-20

Como Citar

1.
Moreira Sousa R, Bernardes C, Pires G, Vieira C, Cunha I. Distrofia Muscular Congénita Tipo 1A: O Papel da Reabilitação Multidisciplinar. Sinapse [Internet]. 20 de Abril de 2024 [citado 11 de Outubro de 2024];22(3):137-40. Disponível em: https://sinapse.pt/index.php/journal/article/view/62

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