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Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

  • H.J. McMillan (a1) and J. Michaud (a2)

Extract

Muscular dystrophies can show clinical and muscle biopsy features that mimic or overlap the changes seen in a primary myositis, particularly in the early stages of disease or when the clinical onset is abrupt. We present a child who was eventually diagnosed with limb girdle muscular dystrophy type 2I (LGMD2i). she presented with mild hip-girdle weakness and post-infectious myalgia. although her clinical symptoms favoured a muscular dystrophy, her muscle biopsy showed inflammatory infiltrates within muscle fibres and around blood vessels that were more typical of juvenile polymyositis. additional immunocytochemical antibody tests and genetic sequencing were key to obtaining an accurate diagnosis and avoiding immunosuppressant therapy.

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Copyright

Corresponding author

Division of Neurology, Children's Hospital of Eastern Ontario, 401 smyth Road, Ottawa, Ontario, K1H 8L1, Canada. Email: hmcmillan@cheo.on.ca.

References

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1. Stensland, E, Lindal, S, Jonsrud, C, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with limb girdle muscular dystrophy 2I. Neuromuscul Disord. 2011; 21(1):416.
2. Brown, SC, Torelli, S, Brockington, M, et al. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol. 2004;164(2):72737.
3. Sveen, ML, Schwartz, M, Vissing, J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006;59(5):80815.
4. Benveniste, O, Romero, NB. Myositis or dystrophy? Traps and pitfalls. Presse Med. 2011;40(4 Pt 2):e24955.
5. D'arcy, CE, Ryan, MM, McLean, CA. Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases. Histopathology. 2009;55(4):45262.
6. Darin, N, Kroksmark, AK, Ahlander, AC, et al. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol. 2007;11(6):3537.

Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

  • H.J. McMillan (a1) and J. Michaud (a2)

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