An update on diagnostic options and considerations in limb-girdle dystrophies

References

• Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain. 1954;77(2):169–231.
   Web of Science ®Google Scholar
• Bushby KMD. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromusc Disord. 1995;5:71–74.
   PubMed Web of Science ®Google Scholar
• Fanin M, Pegoraro E, Matsuda-Asada C, et al. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology. 2001;56:660–665.
   PubMed Web of Science ®Google Scholar
• Magri F, Nigro V, Angelini C, et al. The italian limb girdle muscular dystrophy registry: relative frequency, clinical features, and differential diagnosis. Muscle & Nerve [Internet]. 2017;55:55–68.
   PubMed Web of Science ®Google Scholar
• Frosk P, Weiler T, Nylen E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin–ligase gene. Am J Hum Genet. 2002;70:663–672.
   PubMed Web of Science ®Google Scholar
• Fanin M, Hoffman EP, Angelini C, et al. Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. Human Mut. 2000;16:13–17.
   PubMed Web of Science ®Google Scholar
• Straub V, Murphy A, Udd B. creat229 th ENMC international workshop: limb girdle muscular dystrophies – nomenclature and reformed classification, 17–19 march 2017, Naarden, The Netherlands. Neuromusc Disord. 2018;17–19. In press.
   Google Scholar
• Speer MC, Vance JM, Grubber JM, et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet. 1999;64:556–562.
   PubMed Web of Science ®Google Scholar
• Sarparanta J, Jonson PH, Golzio C, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genet. 2012;44:450–455,S1–2.
   PubMed Web of Science ®Google Scholar
• Torella A, Fanin M, Mutarelli M, et al. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS ONE. 2013;8.
   Google Scholar
• Angelini C, Peterle E, Gaiani A, et al. Dysferlinopathy course and sportive activity: clues for possible treatment. Acta Myol. 2011;30:127–132.
   PubMedGoogle Scholar
• Borsato C, Padoan R, Fanin M, et al. G.P.4.07 Relation between LGMD2B progression and physical activity. Neuromusc Disord. 2007;17:789.
   Web of Science ®Google Scholar
• Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle & Nerve. 1983;6:469–480.
   PubMed Web of Science ®Google Scholar
• Lim LE, Duclos F, Broux O, et al. β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12. Nature Genet. 1995;11:257–265.
   PubMed Web of Science ®Google Scholar
• Angelini C, Fanin M, Freda MP, et al. The clinical spectrum of sarcoglycanopathies. Neurology. 1999;52:176–179.
   PubMed Web of Science ®Google Scholar
• Eymard B, Romero NB, Leturcq F, et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology. 1997;48:1227–1234.
   PubMed Web of Science ®Google Scholar
• McNally EM, Passos-Bueno MR, Bönnemann CG, et al. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996;59:1040–1047.
   PubMed Web of Science ®Google Scholar
• Savarese M, Di Fruscio G, Tasca G, et al. Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations. Neuromusc Disord. 2015;25:533–541.
   PubMed Web of Science ®Google Scholar
• Sarkozy A, Hicks D, Hudson J, et al. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Human Mutat. 2013;34:1111–1118.
   PubMed Web of Science ®Google Scholar
• Bolduc V, Marlow G, Boycott KM, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010;86:213–221.
   PubMed Web of Science ®Google Scholar
• Milone M, Liewluck T, Winder TL, et al. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromusc Disord. 2012;22:13–15.
   PubMed Web of Science ®Google Scholar
• Melacini P, Fanin M, Duggan DJ, et al. Heart involvement in muscular dystrophies due to. Muscle & Nerve. 1999;22:473–479.
   PubMed Web of Science ®Google Scholar
• Politano L, Nigro V, Passamano L, et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromusc Disord. 2001;11:178–185.
   PubMed Web of Science ®Google Scholar
• Barresi R, Di Blasi C, Negri T, et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet. 2000;37:102–107.
   PubMed Web of Science ®Google Scholar
• Meznaric-Petrusa M, Kralj E, Angelini C, et al. Cardiomyopathy in a patient with limb-girdle muscular dystrophy type 2D: pathomorphological aspects. Forensic Sci Int. 2001;1:58–62.
   Google Scholar
• Palmieri A, Manara R, Bello L, et al. Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. J Neurol. 2011;258:1312–1320.
   PubMed Web of Science ®Google Scholar
• Mercuri E, Jungbluth H, Muntoni F. Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol. 2005;18:526.
   PubMed Web of Science ®Google Scholar
• Willis TA, Hollingsworth KG, Coombs A, et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS ONE. 2013;8.
   Web of Science ®Google Scholar
• Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI. 25–26 February 2011, Rome, Italy. Neuromusc Disord. 2012;22:Suppl 2, S42-S53.
   Google Scholar
• Fanin M, Angelini C. Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol. 2002;28:461–470.
   PubMed Web of Science ®Google Scholar
• Borsato C, Padoan R, Stramare R, et al. Limb-girdle muscular dystrophies type 2A and 2B: clinical and radiological aspects. Basic Appl Myol. 2006;16:17–25.
   Google Scholar
• Angelini C, Grisold W, Nigro V. Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. Acta Myol. 2011;30:185–187.
   PubMedGoogle Scholar
• Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004;62:1363–1371.
   PubMed Web of Science ®Google Scholar
• Brown RH, Amato A. Calpainopathy and eosinophilic myositis. Ann Neurol. 2006;59:875–877.
   PubMed Web of Science ®Google Scholar
• Mammen AL. Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? Curr Opin Rheum. 2017 Nov;29(6):618–622.
   PubMed Web of Science ®Google Scholar
• Fanin M, Nascimbeni AC, Fulizio L, et al. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol. 2003;163:1929–1936.
   PubMed Web of Science ®Google Scholar
• Meznaric M, Gonzalez-Quereda L, Gallardo E, et al. Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele. Eur J Neurol. 2011;18:1021–1023.
   PubMed Web of Science ®Google Scholar
• Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol. 2016 Oct;29(5):621–627.
   PubMed Web of Science ®Google Scholar
• Angelini C, Savarese M, Fanin M, et al. Next generation sequencing detection of late onset pompe disease. Muscle & Nerve. 2016;53:981–983.
   PubMed Web of Science ®Google Scholar
• Angelini C. Neuromuscular disease: diagnosis and discovery in limb-girdle muscular dystrophy. Nat Rev Neurol. 2016;6–8.
   PubMed Web of Science ®Google Scholar
• Giza CC, Kutcher JS, Ashwal S, et al. Summary of evidence-based guideline update: evaluation and management of concussion in sports: report of the guideline development subcommittee of the American Academy of Neurology. Neurology. 2013;80:2250–2257.
   PubMed Web of Science ®Google Scholar
• Angelini C, Fanin M, Menegazzo E, et al. Homozygous α-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Muscle and Nerve. 1998;21:769–775.
   PubMed Web of Science ®Google Scholar
• Shimo T, Maruyama R, Yokota T. Designing effective antisense oligonucleotides for exon skipping. Methods Mol Biol. 2018;1687:143–155.
   PubMedGoogle Scholar
• Azakir BA, Di Fulvio S, Kinter J, et al. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. J Biol Chem. 2012;287:10344–10354.
   PubMed Web of Science ®Google Scholar
• van der Ploeg AT, Kruijshaar ME, Toscano A, et al. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017;24:768–e31.
   PubMed Web of Science ®Google Scholar
• Angelini C. Enzyme replacement therapy for the treatment of Pompe disease. Expert Opin Orphan Drugs. 2018;6. In press.
   PubMed Web of Science ®Google Scholar
• Angelini C, Nardetto L, Borsato C, et al. The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurol Res. 2010;32:41–46.
   PubMed Web of Science ®Google Scholar
• Sharma A, Sane H, Badhe P. A clinical study shows safety and efficacy of autologous bone marrow mononuclear cell therapy to improve quality of life in muscular dystrophy patients. Cell Transplantation. 2013.
   Web of Science ®Google Scholar
• Wagner KR, Fleckenstein JL, Amato AA, et al. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurl. 2008;63:561–571.
   PubMed Web of Science ®Google Scholar
• Papadopoulos C, Orlikowski D, Prigent H, et al. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme(R)) in 12 patients with advanced late-onset Pompe disease. Mol Genet Metab. 2017;122:80–85.
   PubMed Web of Science ®Google Scholar
• Potter RA, Griffin DA, Sondergaard PC, et al. Systemic delivery of dysferlin overlap vectors provides long-term gene expression and functional improvement for dysferlinopathy. Hum Gen Ther [Internet]. 2018 Jul;29(7):749–762.
   Google Scholar
• Pozsgai ER, Griffin DA, Heller KN, et al. Systemic AAV-mediated β-sarcoglycan delivery targeting cardiac and skeletal muscle ameliorates histological and functional deficits in LGMD2E mice. Mol Ther. 2017;25:855–869.
   PubMed Web of Science ®Google Scholar
• Yu M, He Y, Wang K, et al. Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy. Hum Gene Ther. 2013;24:317–330.
   PubMed Web of Science ®Google Scholar
• Salehi F, Zeinaloo A, Riasi HR, et al. Effectiveness of Coenzyme Q10 on echocardiographic parameters of patients with Duchenne muscular dystrophy. Electronic Physician [Internet]. 2017;9:3896–3904.
   PubMedGoogle Scholar
• Okkersen K, Jimenez-Moreno C, Wenninger S, et al. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol. 2018;17:671–680.
   PubMed Web of Science ®Google Scholar
• Amberger JS, Hamosh A. Searching online mendelian inheritance in man (OMIM): a knowledgebase of human genes and genetic phenotypes. Curr Protoc Bioinformatics. 2017;2017:1.2.1–1.2.12.
   Google Scholar