Hereditary Myopathies: Clinical Features and Diagnostic Pathways
Hereditary myopathies are rare genetic disorders presenting with muscle weakness. Clinical suspicion, imaging techniques, and genetic testing play key roles in diagnosis. Explore the lecture structure, learning objectives, and references for insights into management and therapeutic options.
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Presentation Transcript
Hereditary myopathies Francesco Muntoni University College Institute of Child Health & Great Ormond Street Hospital London WC1N 1EH United Kingdom
Francesco Muntoni: disclosures Duchenne Muscular Dystrophy Clinical trials CI of 4 antisense oligonucleotides clinical trials with Sarepta. PI of Sarepta Phase III AAVrh74 microdystrophin CI of MDUK/Genethon AAV8 microdystrophin Natural history studies PI of the MDUK funded UK North Star DMD network; and AFM funded iMDEX natural history study PI of D-Brain, dystrophin restoration in mdx brain, funded by Sarepta Spinal Muscular Atrophy Natural history studies PI of the Biogen and MDUK funded UK North Star DMD network; and AFM funded iMDEX natural history study PI of Biogen antisense oligonucleotide nusinersen Phase III study PI of Novartis AAV9 phase II and III trials in SMA I PI of Roche risdiplam Jewelfish study Myotubular Myopathy PI of Astellas AAV8 MTM1 gene natural history and gene therapy trial Other financial disclosures Member of Dyne Therapeutics SAB Ad-hoc SAB participation for Novartis, Biogen, Dynacure, Roche, Sarepta therapeutics, Lilly, Edgewise
Structure of the lecture Congenital myopathies are rare and genetically heterogenous with overlapping clinical features Some clinical findings are very helpful to suspect a congenital myopathy, including the presence of facial, axial and respiratory muscle weakness In the past muscle biopsy was always indicated to reach a final diagnosis While muscle biopsies still play an important role, muscle imaging techniques (muscle MRI and ultrasound) and next generation sequencing techniques now play a major role in the diagnostic pathway
Learning objectives Most relevant clinical signs Differential diagnosis Conditions associated with involvement of organs other tan skeletal muscle Diagnostic algorithm Management and standards of care Therapeutic options
References Ogasawara M, Nishino I. A review of major causative genes in congenital myopathies. J Hum Genet. 2023 Mar;68(3):215-225 Ginestre C, Laporte J. Therapeutic approaches in different congenital myopathies. Curr Opin Pharmacol, 2023 Radke J, Stenzel W, Goebel HH. Recently Identified Congenital Myopathies. Semin Pediatr Neurol. 2019 Apr;29:83-90. Jungbluth H, Muntoni F. Therapeutic Aspects in Congenital Myopathies. Semin Pediatr Neurol. 2019 Apr;29:71-82. Carlier RY, Quijano-Roy S.. Myoimaging in Congenital Myopathies. Semin Pediatr Neurol. 2019 Apr;29:30-43. Pelin K, Wallgren-Pettersson C.. Update on the Genetics of Congenital Myopathies. Semin Pediatr Neurol. 2019 Apr;29:12-22 Gonorazky HD, B nnemann CG, Dowling JJ. The genetics of congenital myopathies. Handb Clin Neurol. 2018;148:549-564. Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018 Mar;14(3):151-167. Wang CH, Dowling JJ, North K et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012 Mar;27(3):363-82.
