The art of muscle biopsy in new genetic era
Iranian Journal of Child Neurology,
Vol. 13 No. 4 (2019),
1 October 2019
,
Page 7-17
https://doi.org/10.22037/ijcn.v13i4.26499
Abstract
Abstract
Objective
Muscle biopsy is a part of paraclinical workup of patients with neuromuscular diseases. With great new advances in techniques of molecular diagnosis like next generation sequencing (NGS) and introducing new serologic markers in recent years, the strategy of diagnosis of some neuromuscular diseases has been changed and application of muscle biopsy has been questioned in some instances.
Materials and method
We explain role of pre and post muscle biopsy factors and their importance to achieve the best result from a muscle biopsy and review indications of muscle biopsy in different types of neuromuscular diseases based on literature review and our 12 years experience as the only standard referral center for muscle biopsy for a population of about 80 millions.
Conclusion
Although diagnostic algorithm of some muscle diseases has been changed by recent advances in diagnostic biochemical and molecular techniques, still muscle biopsy continues to play a major role in diagnosis and managing of neuromuscular patients and physicians must choose their preferable diagnostic test for their patient's, case by case, based on their local available facilities.
How to Cite
References
Patel HP, Cooper C, Sayer AA. Percutaneous Muscle Biopsy: History, Methods and Acceptability. Scand J Med Sci Sports 2017; 27(5): 458-461.
Joyce NC, Oskarsson B, Jin LW. Muscle Biopsy Evaluation in Neuromuscular Disorders. Phys Med Rehabil Clin N Am 2012; 23(3): 609–631.
Kyriakides T, Angelini C, Schaefer J, Sacconi S, Siciliano G, Vilchez JJ et al. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyper CKemia. Eur J Neurol. 2010; 17(6):767-73.
Bergmann M, Weis J, Probst-Cousin S. Muscle biopsy: Indications and techniques. Pathologe 2009; 30(5): 345-6, 348-51.
Dubowitz V, Sewry CA, Oldfors A. Muscle biopsy a practical approach. Fourth edition, 2013. Saunders Elsevier limited.
Baczynska AM, Shaw S, Roberts HC, Cooper C, Aihie Sayer A, Patel HP. Human Vastus Lateralis Skeletal Muscle Biopsy Using the Weil-Blakesley Conchotome. J Vis Exp 2016; (109): 53-75.
Verhaart IEC, Johnson A, Thakrar S, Vroom E, De Angelis F, Muntoni F et al. Muscle biopsies in clinical trials for Duchenne muscular dystrophy-patients' and caregivers' perspective. Neuromuscul Disord 2019in press.
Keith J. Diagnostic skeletal muscle biopsy: quality assurance considerations for the Anatomical Pathology department. Diagnostic Histopathology 2016; 22(9): 345-353.
Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M.Metabolic myopathies: a practical approach. Pract Neurol 2018; 18(1):14–26.
Pena L, Kim K, Charrow J. Episodic myoglobinuria in a primary gamma sarcoglycanopathy. Neuromuscul Disord 2010; 20(5):337-9.
Amato AA, Russell JA. Neuromuscular disorders. Second edition, 2016. McGraw-Hill education.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2015; 17(9): 689–701.
Schmidt J. Current Classification and Management of Inflammatory Myopathies. J Neuromuscul Dis. 2018;5(2):109-129.14.
Pestronk A. Acquired immune and inflammatory myopathies: pathologic classification. Curr Opin Rheumatol 2011; 23(6): 595-604.
Leclair V, Lundberg IE. New Myositis Classification Criteria-What we have learned since Bohan and Peter. Curr Rheumatol Rep. 2018 Mar 17;20(4):18.
Ingrid E. Lundberg, Anna Tjarnlund, Matteo Bottai, Victoria P. Werth, Clarissa Pilkington et al. 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups. Arthritis Rheumatol 2017; 69(12): 2271–2282.
Uruha A, Nishikawa A, Tsuburaya RS, Hamanaka K, Kuwana M et al. Sarcoplasmic MxA expression: A valuable marker of dermatomyositis. Neurology 2017; 88(5): 493-500.
Uruha A, Allenbach Y, Charuel JL, Musset L, Aussy A et al. Diagnostic potential of sarcoplasmic myxovirus resistance protein A expression in subsets of dermatomyositis. Neuropathol Appl Neurobiol 2019; 45(5): 513-522.
Benveniste O, Goebel HH, Stenzel W. Biomarkers in Inflammatory Myopathies-An Expanded Definition. Front Neurol 2019; 10: 554.
Tanboon J, Nishino I. Classification of idiopathic inflammatory myopathies: pathology perspectives. Curr Opin Neurol. 2019, in press.
Kevin M. Flanigan. Duchenne and Becker Muscular Dystrophies. Neurol Clin 2014; (32): 671–688.
Swaiman KF, Ashwal S, Frriero DM, Sohor NF, Finkel RS, Gropman AL et al. Swaiman's pediatric Neurology. Principles and practice, sixth edition, 2017. Elsevier Inc.
Johnson K, Töpf A, Bertoli M, Phillips L, Blain A. The MYO-SEQ project: application of exome sequencing technologies to 1001 patients affected by limb-girdle weakness of unknown origin. Poster presented at EURO-NMD 1st Annual Meeting. Freiburg, Germany; November, 2017.
Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G et al. LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. J Neurogenet 2017; 31(3):161-169.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C et al. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr 2017; 43(1):101.
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG Recent advances in understanding congenital myopathies. F1000Res. 2018 Dec 11;7.
Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol 2016; 29: 621–7.
Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol 2015; 72: 1424–32.
Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, et al. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet 2016; 61: 497–505.
[Review of the book. Pathology of Skeletal Muscle written by Carpenter S and Karpati G]. Ann Intern Med. 1984.
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