The role of magnetic resonance imaging of muscles in the differential diagnosis of certain forms and subtypes of limb-girdle muscular dystrophy: case analysis
Keywords:magnetic resonance imaging of muscles, limb-girdle muscular dystrophy, genetics, specific patterns of muscle damage
AbstractLimb-girdle muscular dystrophy is a genetically heterogeneous group of disorders that are characterized by slowly progressing muscle weakness and presents a diagnostic problem in the neurological practice. The combination of clinical, radiological, and laboratory methods of examination plays an important role in referring the patient to genetic counseling and making the correct diagnosis. Magnetic resonance imaging of muscles is increasingly used to give clues in the primary muscle damage diagnosis, based on specific patterns of muscle lesion. The article provides two clinical cases as an example of an integrated approach to the diagnosis of progressive muscular dystrophy using genetic analysis and magnetic resonance imaging of muscles
Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014 May;33(1):1–12.
Straub V, Murphy A, Udd B. LGMD workshop study group 229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord. 2018 August;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007.
Mahmood OA, Jiang XM. Limb-girdle musculardystrophies: where next after six decades from the firstproposal (Review). Mol Med Rep. 2014 May;9(5):1515–1532. doi: 10.3892/mmr.2014.2048
Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle&Nerve. 2018 August;58:167-177. doi:10.1002/mus.26077
Magri F, Nigro V, Angelini C, et al. The Italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. Muscle & Nerve. 2017 January;55:55–68. doi: 10.1002/mus.25192
Palahuta HV, Smolanka VI, Dutka IYu. The diagnostic role of magnetic resonance imaging of muscles in neuromuscular diseases: scientific review and personal observation. International neurological journal. 2019 April;1(103):10-14. doi: 10.22141/2224-07220.127.116.119.158635.
Narayanaswami P, Weiss M, Selcen D, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: 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. 2014 October;83(16):1453-1463. doi:10.1212/WNL.0000000000000892
Straub V, Murphy A, Udd B, LGMD workshop study group 229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord. 2018 August;28(8):702-710.doi: 10.1016/j.nmd.2018.05.007
Carlier PG, Marty B, Scheidegger O, Loureiro de Sousa P, Baudin P, Snezhko E, Vlodavets D. Skeletal muscle quantitative nuclear magnetic resonance imaging and spectroscopy as an outcome measure for clinical trials (part I). Neuromuscular Diseases. 2016 Апрель; 4:10-20. https://doi.org/10.17650/2222-8721-2016-6-4-10-20
Carlier PG, Marty B, Scheidegger O, Loureiro de Sousa P, Baudin P, Snezhko E, Vlodavets D. Skeletal muscle quantitative nuclear magnetic resonance imaging and spectroscopy as an outcome measure for clinical trials (part II). Neuromuscular Diseases. 2017 Сентябрь;7(1):11-29. https://doi.org/10.17650/2222-8721-2017-7-1-11-29
Tasca G, Monforte M, Iannaccone E, et al. Muscle MRI in female carriers of dystrophinopathy. European Journal of Neurology. 2012 September;19(9):1256–1260. https://doi.org/10.1111/j.1468-1331.2012.03753.x
Lovitt S, Moore SL, Franklin A, Marden FA. The use of MRI in the evaluation of myopathy. Clinical Neurophysiology. 2006 January; 117:486–495. doi:10.1016/j.clinph.2005.10.010
Мercuri E, Clements E, et al. Muscle magnetic resonanceimaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010 February;67(2):201-8. doi:10.1002/ana.21846.
Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010 October;20(10):2447–2460. doi:10.1007/s00330-010-1799-2
Ten Dam L, Van der Kooi AJ, Van Wattingen M, et al. Reliability and accuracy of skeletal muscle imaging in limb girdle muscular dystrophies. Neurology. 2012 October;79(16)1716-1723. doi: https://doi.org/10.1212/WNL.0b013e31826e9b73
Richard I, Hogrel JY, Stockholm D, Payan CA, Fougerousse F, Calpainopathy Study Group, et al. Natural history of LGMD2A for delineating outcome measures in clinical trials. Ann Clin Transl Neurol. 2016 April;3(4):248–265. doi:10.1002/acn3.287
Jin S, Du J, Wang Z, Zhang W, Lv H, Meng L, et al. Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. Muscle Nerve. 2016 December;54(6):1072-1079. doi:10.1002/mus.25207
Tasca G, Monforte M, Díaz-Manera J, et al. MRI in sarcoglycanopathies: a large international cohort study. J Neurol Neurosurg Psychiatry. 2017 September;89(1):72-77. doi:10.1136/jnnp-2017-316736
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