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Congenital Muscular Dystrophy

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Atlas of Genetic Diagnosis and Counseling
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Abstract

Congenital muscular dystrophy (CMD) refers to a group of genetic disorders in which weakness and an abnormal muscle biopsy are present at birth.

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References

  • Aida, N. (1998). Fukuyama congenital muscular dystrophy: A neuroradiologic review. Journal of Magnetic Resonance Imaging, 8, 317–326.

    Article  CAS  PubMed  Google Scholar 

  • Allamand, V., & Guicheney, P. (2002). Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). European Journal of Human Genetics, 10, 91–94.

    Article  CAS  PubMed  Google Scholar 

  • Bertini, E., D’Amico, A., Gualandi, F., et al. (2011). Congenital muscular dystrophies: A brief review. Seminars in Pediatric Neurology, 18, 277–288.

    Article  PubMed  PubMed Central  Google Scholar 

  • Bharucha-Goebel, D. X., Santi, M., Medne, L., et al. (2013). Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum. Neurology, 80, 1584–1589.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bonnemann, C. G., Wang, C. H., Quijano-roy, S., et al. (2014). Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders, 24, 289–311.

    Article  PubMed  PubMed Central  Google Scholar 

  • Brockington, M., Blake, D. J., Prandini, P., et al. (2001a). Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. American Journal of Human Genetics, 69, 1198–1209.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brockington, M., Yuva, Y., Prandini, P., et al. (2001b). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics, 10, 2851–2859.

    Article  CAS  PubMed  Google Scholar 

  • Cardamone, M., Darras, B. T., & Ryan, M. M. (2008). Inherited myopathies and muscular dystrophies. Seminars in Neurology, 28, 250–259.

    Article  PubMed  Google Scholar 

  • Caro, P. A., Scavina, M., Hoffman, E., et al. (1999). MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR. American Journal of Neuroradiology, 20, 324–326.

    CAS  PubMed  Google Scholar 

  • Chijiiwa, T., Nishimura, M., Inomata, H., et al. (1983). Ocular manifestations of congenital muscular dystrophy (Fukuyama type). Annals of Ophthalmology, 15(921–923), 926–928.

    Google Scholar 

  • Cormand, B., Pihko, H., Bayés, M., et al. (2001). Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology, 56, 1059–1069.

    Article  CAS  PubMed  Google Scholar 

  • Flanigan, K. M., Kerr, L., Bromberg, M. B., et al. (2000). Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study. Annals of Neurology, 47, 152–161.

    Article  CAS  PubMed  Google Scholar 

  • Fukuyama, Y., & Ohsawa, M. (1984). A genetic study of the Fukuyama type congenital muscular dystrophy. Brain & Development, 6, 373–390.

    Article  CAS  Google Scholar 

  • Fukuyama, Y., Osawa, M., & Suzuki, H. (1981). Congenital progressive muscular dystrophy of the Fukuyama type – Clinical, genetic and pathological considerations. Brain & Development, 3, 1–29.

    Article  CAS  Google Scholar 

  • Guicheney, P., Vignier, N., Helbling-Leclerc, A., et al. (1997). Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: From identification of mutations to prenatal diagnosis. Neuromuscular Disorders, 7, 180–186.

    Article  CAS  PubMed  Google Scholar 

  • Guicheney, P., Vignier, N., Zhang, X., et al. (1998). PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): Application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. Journal of Medical Genetics, 35, 211–217.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Helbling-Leclerc, A., Zhang, X., Topaloglu, H., et al. (1995). Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genetics, 11, 216–218.

    Article  CAS  PubMed  Google Scholar 

  • Iannaccone, S. T., & Castro, D. (2013). Congenital muscular dystrophies and congenital myopathies. Continuum (Minneap Minn), 19, 1509–1534.

    Google Scholar 

  • Jones, K., & North, K. (2003). The congenital muscular dystrophies. In H. R. Jones, D. C. De Vivo, & B. T. Darras (Eds.), Neuromuscular disorders of infancy, childhood, and adolescence: A clinician’s approach (pp. 633–634). Philadelphia: Butterworth Heinemann.

    Google Scholar 

  • Kang, P. B., Morrison, L., Iannaccone, S. T., et al. (2015). Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology, 84, 1369–1378.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kobayashi, O., Hayashi, Y., Arahata, K., et al. (1996). Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. Neurology, 46, 815–818.

    Article  CAS  PubMed  Google Scholar 

  • Kondo, E., Saito, K., Toda, T., et al. (1996). Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. American Journal of Medical Genetics, 66, 169–174.

    Article  CAS  PubMed  Google Scholar 

  • Kondo-Iida, E., Saito, K., Tanaka, H., et al. (1997). Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Human Genetics, 99, 427–432.

    Article  CAS  PubMed  Google Scholar 

  • Kondo-Iida, E., Kobayashi, K., Watanabe, M., et al. (1999). Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Human Molecular Genetics, 8, 2303–2309.

    Article  CAS  PubMed  Google Scholar 

  • Leyten, Q. H., Gabreels, F. J., Joosten, E. M., et al. (1986). An autosomal dominant type of congenital muscular dystrophy. Brain & Development, 8, 533–537.

    Article  CAS  Google Scholar 

  • Leyten, Q. H., Gabreels, F. J., Renier, W. O., et al. (1996). Congenital muscular dystrophy: A review of the literature. Clinical Neurology and Neurosurgery, 98, 267–280.

    Article  CAS  PubMed  Google Scholar 

  • Lopate, G. (2015). Congenital muscular dystrophy. eMedicine from WebMD. Updated 24 Dec 2015. Available at: http://emedicine.medscape.com/article/1180214-overview

  • Mercuri, E., & Muntoni, F. (2012). The ever-expanding spectrum of congenital muscular dystrophies. Annals of Neurology, 72, 9–17.

    Article  PubMed  Google Scholar 

  • Mitsuhashi, S., Ohkuma, A., Talim, B., et al. (2011). A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. American Journal of Human Genetics, 88, 845–851.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Muntoni, F., & Voit, T. C. (2004). The congenital muscular dystrophies in 2004: A century of exciting progress. Neuromuscular Disorders, 14, 635–649.

    Article  PubMed  Google Scholar 

  • Naom, I., Sewry, C., D’Alessandro, M., et al. (1997). Prenatal diagnosis in merosin-deficient congenital muscular dystrophy. Neuromuscular Disorders, 7, 176–179.

    Article  CAS  PubMed  Google Scholar 

  • Nass, D., Goldberg, I., & Sadeh, M. (1999). Laminin alpha2 deficient congenital muscular dystrophy: Prenatal diagnosis. Early Human Development, 55, 19–24.

    Article  CAS  PubMed  Google Scholar 

  • Nishino, I., Kobayashi, O., Goto, Y., et al. (1998). A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle & Nerve, 21, 40–47.

    Article  CAS  Google Scholar 

  • O’Grady, G. L., Best, H. A., Oates, E. C., et al. (2015). Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. European Journal of Human Genetics, 23, 883–886.

    Article  PubMed  Google Scholar 

  • Quijano-Roy, S., Renault, F., Romero, N., et al. (2004). EMG and nerve conduction studies in children with congenital muscular dystrophy. Muscle and Nerve, 29, 292–299.

    Article  PubMed  Google Scholar 

  • Santavuori, P., Leisti, J., & Kruus, S. (1977). Muscle, eye, and brain disease: A new syndrome. Neuropediatrics, 8(suppl), 553–558.

    Article  Google Scholar 

  • Schara, U., Kress, W., Bonnemann, C. G., et al. (2008). The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. European Journal of Paediatric Neurology, 12, 224–230.

    Article  PubMed  Google Scholar 

  • Sombekke, B. H., Molenaar, W. M., van Essen, A. J., et al. (1994). Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita: Three new cases and review of the literature. Pediatric Pathology, 14, 277–285.

    Article  CAS  PubMed  Google Scholar 

  • Sparks, S., Quijano-Roy, S., Harper, A., et al. (2012). Congenital muscular dystrophy overview. GeneReviews. Updated 23 Aug 2012. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1291/

  • Takai, Y., Tsutsumi, O., Harada, I., et al. (1998). Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis. Human Reproduction, 13, 320–323.

    Article  CAS  PubMed  Google Scholar 

  • Toda, T., Segawa, M., Nomura, Y., et al. (1993). Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genetics, 5, 283–286.

    Article  CAS  PubMed  Google Scholar 

  • Toda, T., Kobayashi, K., Kondo-Iida, E., et al. (2000). The Fukuyama congenital muscular dystrophy story. Neuromuscular Disorders, 10, 153–159.

    Article  CAS  PubMed  Google Scholar 

  • Topaloglu, H., Renda, Y., Yalaz, K., et al. (1990). Classification of congenital muscular dystrophy. Journal of Pediatrics, 117, 166–167.

    Article  CAS  PubMed  Google Scholar 

  • Valencia, C. A., Rhodenizer, D., Bhide, S., et al. (2012). Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. The Journal of Molecular Diagnostics, 14, 233–246.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Voit, T. (1998). Congenital muscular dystrophies: 1997 update. Brain & Development, 20, 65–74.

    Article  CAS  Google Scholar 

  • Yoshioka, M., & Kuroki, S. (1994). Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. American Journal of Medical Genetics, 53, 245–250.

    Article  CAS  PubMed  Google Scholar 

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Chen, H. (2017). Congenital Muscular Dystrophy. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_55

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_55

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