Muscle magnetic resonance imaging in congenital myasthenic syndromes

Muscle and Nerve

Volumn 54, Issue 2, 2016, Pages 211-219

  Finlayson, Sarah ^a   Morrow, Jasper M ^b   Rodriguez Cruz, Pedro M ^a   Sinclair, Christopher D J ^b   Fischmann, Arne ^b   Thornton, John S ^b   Knight, Steve ^a   Norbury, Ray ^a   White, Mel ^a   Al hajjar, Michal ^a   Carboni, Nicola ^c   Jayawant, Sandeep ^a   Robb, Stephanie A ^d   Yousry, Tarek A ^b   Beeson, David ^a   Palace, Jacqueline ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Ospedale San Francesco   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

congenital myasthenia; diagnosis; genetic; imaging; MRI; muscle

Indexed keywords

PYRIDOSTIGMINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; GLYCOSYLATION; GROUPS BY AGE; HUMAN; KNEE FUNCTION; MALE; MOTOR END PLATE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUADRICEPS FEMORIS MUSCLE; SHORT TAU INVERSION RECOVERY IMAGING; SOLEUS MUSCLE; STATISTICAL SIGNIFICANCE; THIGH;

EID: 84978923149     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.25035     Document Type: Article

References (38)

1. Engel AG. Congenital myasthenic syndromes in 2012. Curr Neurol Neurosci Rep 2012;12:92–101.
2. Beeson D. Synaptic dysfunction in congenital myasthenic syndromes. Ann NY Acad Sci 2012;1275:63–69.
3. Chaouch A, Beeson D, Hantaï D, Lochmüller H. 186th ENMC International Workshop: Congenital Myasthenic Syndromes 24–26 June 2011, Naarden, The Netherlands. Neuromuscul Disord 2012;22:566–576.
4. Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 2007;25:433–440.
5. Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25–26 February 2011, Rome, Italy. Neuromuscul Disord 2012;22(suppl 2):S42–53.
6. North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014;24:97–116.
7. Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010;20:2447–2460.
8. Quijano-Roy S, Avila-Smirnow D, Carlier RY, WB-MRI Muscle Study Group. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 2012;22(suppl 2):S68–84.
9. Tasca G, Iannaccone E, Monforte M, Masciullo M, Bianco F, Laschena F, et al. Muscle MRI in Becker muscular dystrophy. Neuromuscul Disord 2012;22(suppl 2):S100–106.
10. Ohana M, Durand M-C, Marty C, Lazareth J-P, Maisonobe T, Mompoint D, et al. Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome. Skeletal Radiol 2014;43:1113–1122.
11. Lovitt S, Moore SL, Marden FA. The use of MRI in the evaluation of myopathy. Clin Neurophysiol 2006;117:486–495.
12. Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002;12:631–638.
13. Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008;71:758–765.
14. Kim HK, Laor T, Horn PS, Racadio JM, Wong B, Dardzinski BJ. T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments. Radiology 2010;255:899–908.
15. Monforte M, Mercuri E, Laschena F, Ricci E, Tasca G. Calf muscle involvement in Becker muscular dystrophy: when size does not matter. J Neurol Sci 2014;347:301–304.
16. Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E, et al. Upper girdle imaging in facioscapulohumeral muscular dystrophy. PLoS One 2014;9:e100292.
17. Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, et al. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscul Disord 2013;23:883–891.
18. Quijano-Roy S, Carlier RY. Muscle magnetic resonance imaging: a new diagnostic tool with promising avenues in therapeutic trials. Neuropediatrics 2014;45:273–274.
19. Kinali M, Beeson D, Pitt MC, Jungbluth K, Simonds AK, Alysius A, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008;201-202:6–12.
20. Engel AG, Lambert EH, Mulder DM, Torres CF, Sahashi K, Bertorini T, et al. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 1982;11:553–569.
21. Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper C, et al. Congenital endplate acetylcholinesterase deficiency. Brain 1993;116:633–653.
22. Selcen D, Milone M, Shen X-M, Harper M, Stans AA, Wieben ED, et al. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol 2008;64:71–87.
23. Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, et al. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 2012;259:838–850.
24. Belaya K, Finlayson S, Slater C, Cossins J, Liu WW, Maxwell S, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012;91:193–201.
25. Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni, N, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013;136:944–956.
26. Schiaffino S. Tubular aggregates in skeletal muscle: just a special type of protein aggregates? Neuromuscul Disord 2012;22:199–207.
27. Jaretzki A, Barohn RJ, Ernstoff RM, Kaminski HJ, Keesey JC, Penn AS, et al. Myasthenia gravis: recommendations for clinical research standards. Task Force of the Medical Scientific Advisory Board of the Myasthenia Gravis Foundation of America. Neurology 2000;55:16–23.
28. Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 2004;14:356–364.
29. Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 2010;74:1517–1523.
30. Wolfe GI, Herbelin L, Nations SP, Foster B, Bryan WW, Barohn RJ. Myasthenia gravis activities of daily living profile. Neurology 1999;52:1487–1489.
31. Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CDJ, Reilly MM, et al. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscul Disord 2013;23:637–646.
32. Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungluth H, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 2002;6:309–314.
33. Brown SC, Jimenez-Mallebrera C. Biochemical and molecular basis of muscle disease. In: Karpati G, Hilton-Jones D, Bushby K, Griggs RC, editors. Disorders of voluntary muscle, 8th ed. Cambridge, UK: Cambridge University Press; 2010. p. 37–80.
34. Selcen D, Shen X-M, Brengman J, Li Y, Stans AA, Wieben E, et al. DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies. Neurology 2014;82;1822–1830.
35. Torriani M, Townsend E, Thomas BJ, Bredella MA, Ghomi RH, Tseng BS. Lower leg muscle involvement in Duchenne muscular dystrophy: an MR imaging and spectroscopy study. Skeletal Radiol 2012;41:437–445.
36. Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille M-J, et al. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 2014;137:2429–2443.
37. Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, et al. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 2012;259:474–481.
38. Finlayson S, Beeson D, Palace J. Congenital myasthenic syndromes: an update. Pract Neurol 2013;13:80–91.