Skip to main content

Advertisement

Log in

Update on muscle disease

  • Neurological Update
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Abstract

In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Allenbach Y, Drouot L, Rigolet A, Charuel JL, Jouen F, Romero NB, Maisonobe T, Dubourg O, Behin A, Laforet P, Stojkovic T, Eymard B, Costedoat-Chalumeau N, Campana-Salort E, Tournadre A, Musset L, Bader-Meunier B, Kone-Paut I, Sibilia J, Servais L, Fain O, Larroche C, Diot E, Terrier B, De Paz R, Dossier A, Menard D, Morati C, Roux M, Ferrer X, Martinet J, Besnard S, Bellance R, Cacoub P, Arnaud L, Grosbois B, Herson S, Boyer O, Benveniste O, Network FM (2014) Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. Medicine (Baltimore) 93:150–157

    Article  CAS  Google Scholar 

  2. Barbacki A, Fallavollita SA, Karamchandani J, Hudson M (2018) Immune-mediated necrotizing myopathy and dietary sources of statins. Ann Intern Med. https://doi.org/10.7326/L17-0620

    Article  PubMed  Google Scholar 

  3. Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D (2012) Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 91:193–201

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  4. Benveniste O, Stenzel W, Hilton-Jones D, Sandri M, Boyer O, van Engelen BG (2015) Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken. Acta Neuropathol 129:611–624

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  5. Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell’Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V (2010) A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 18:636–641

    Article  PubMed  PubMed Central  Google Scholar 

  6. Blalock A, Mason MF, Morgan HJ, Riven SS (1939) Myasthenia gravis and tumors of the thymic region: report of a case in which the tumor was removed. Ann Surg 110:544–561

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. Boncompagni S, Protasi F, Franzini-Armstrong C (2012) Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement. Age (Dordr) 34:27–41

    Article  CAS  Google Scholar 

  8. Brady S, Squier W, Sewry C, Hanna M, Hilton-Jones D, Holton JL (2014) A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open 4:e004552

    Article  PubMed  PubMed Central  Google Scholar 

  9. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69:1198–1209

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. Burakiewicz J, Sinclair CDJ, Fischer D, Walter GA, Kan HE, Hollingsworth KG (2017) Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy. J Neurol 264(10):2053–2067

    Article  PubMed  PubMed Central  Google Scholar 

  11. Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J (2013) Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 92:271–278

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  12. Chevessier F, Bauché-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantaï D, Verdière-Sahuqué M (2005) The origin of tubular aggregates in human myopathies. J Pathol 207:313–323

    Article  PubMed  CAS  Google Scholar 

  13. Christopher-Stine L, Casciola-Rosen LA, Hong G, Chung T, Corse AM, Mammen AL (2010) A novel autoantibody recognizing 200-kd and 100-kd proteins is associated with an immune-mediated necrotizing myopathy. Arthritis Rheum 62:2757–2766

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  14. Chung CS, Morton NE (1959) Discrimination of genetic entities in muscular dystrophy. Am J Hum Genet 11:339–359

    PubMed  PubMed Central  CAS  Google Scholar 

  15. Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F (2011) Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 378:595–605

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  16. del Ser T, Steinwachs KC, Gertz HJ, Andrés MV, Gómez-Carrillo B, Medina M, Vericat JA, Redondo P, Fleet D, León T (2013) Treatment of Alzheimer’s disease with the GSK-3 inhibitor tideglusib: a pilot study. J Alzheimers Dis 33:205–215

    PubMed  Google Scholar 

  17. Engel WK, Bishop DW, Cunningham GG (1970) Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res 31:507–525

    Article  PubMed  CAS  Google Scholar 

  18. Feske S, Gwack Y, Prakriya M, Srikanth S, Puppel SH, Tanasa B, Hogan PG, Lewis RS, Daly M, Rao A (2006) A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 441:179–185

    Article  PubMed  CAS  Google Scholar 

  19. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC, Group ES (2017) Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med 377:1723–1732

    Article  PubMed  CAS  Google Scholar 

  20. Fischmann A, Hafner P, Fasler S, Gloor M, Bieri O, Studler U, Fischer D (2012) Quantitative MRI can detect subclinical disease progression in muscular dystrophy. J Neurol 259:1648–1654

    Article  PubMed  CAS  Google Scholar 

  21. Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H, Consortium MSGaTIIG (2016) Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging 47:218.e211–218.e219

    Article  CAS  Google Scholar 

  22. Greenberg SA (2014) Cytoplasmic 5′-nucleotidase autoantibodies in inclusion body myositis: isotypes and diagnostic utility. Muscle Nerve 50:488–492

    Article  PubMed  CAS  Google Scholar 

  23. Greenberg SA, Bradshaw EM, Pinkus JL, Pinkus GS, Burleson T, Due B, Bregoli L, Bregoli LS, O’Connor KC, Amato AA (2005) Plasma cells in muscle in inclusion body myositis and polymyositis. Neurology 65:1782–1787

    Article  PubMed  CAS  Google Scholar 

  24. Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, Amato AA (2002) Molecular profiles of inflammatory myopathies. Neurology 59:1170–1182

    Article  PubMed  CAS  Google Scholar 

  25. Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H (2012) Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 259:838–850

    Article  PubMed  Google Scholar 

  26. Henricson EK, Abresch RT, Cnaan A, Hu F, Duong T, Arrieta A, Han J, Escolar DM, Florence JM, Clemens PR, Hoffman EP, McDonald CM, Investigators C (2013) The cooperative international neuromuscular research group Duchenne natural history study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures. Muscle Nerve 48:55–67

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  27. Herbert MK, Stammen-Vogelzangs J, Verbeek MM, Rietveld A, Lundberg IE, Chinoy H, Lamb JA, Cooper RG, Roberts M, Badrising UA, De Bleecker JL, Machado PM, Hanna MG, Plestilova L, Vencovsky J, van Engelen BG, Pruijn GJ (2016) Disease specificity of autoantibodies to cytosolic 5′-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases. Ann Rheum Dis 75:696–701

    Article  PubMed  CAS  Google Scholar 

  28. Hilton-Jones D, Brady S (2016) Diagnostic criteria for inclusion body myositis. J Intern Med 280:52–62

    Article  PubMed  CAS  Google Scholar 

  29. Jones K, Wei C, Iakova P, Bugiardini E, Schneider-Gold C, Meola G, Woodgett J, Killian J, Timchenko NA, Timchenko LT (2012) GSK3β mediates muscle pathology in myotonic dystrophy. J Clin Invest 122:4461–4472

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  30. Khirani S, Ramirez A, Aubertin G, Boulé M, Chemouny C, Forin V, Fauroux B (2014) Respiratory muscle decline in Duchenne muscular dystrophy. Pediatr Pulmonol 49:473–481

    Article  PubMed  Google Scholar 

  31. Larman HB, Salajegheh M, Nazareno R, Lam T, Sauld J, Steen H, Kong SW, Pinkus JL, Amato AA, Elledge SJ, Greenberg SA (2013) Cytosolic 5′-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol 73:408–418

    Article  PubMed  CAS  Google Scholar 

  32. Mammen AL, Chung T, Christopher-Stine L, Rosen P, Rosen A, Doering KR, Casciola-Rosen LA (2011) Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy. Arthritis Rheum 63:713–721

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  33. Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M (2015) York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Mol Genet Metab 114:474–482

    Article  PubMed  CAS  Google Scholar 

  34. Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E, Network ESGaTFDI (2016) Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Ann Neurol 79:257–271

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  35. Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM, Group ES (2013) Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74:637–647

    Article  PubMed  CAS  Google Scholar 

  36. Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F (2010) Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 67:201–208

    Article  PubMed  Google Scholar 

  37. Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J (2014) Gain-of-function mutation in STIM1 (P.R304W) is associated with Stormorken syndrome. Hum Mutat 35:1221–1232

    Article  PubMed  CAS  Google Scholar 

  38. Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L (2014) Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci USA 111:4197–4202

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  39. Neves VC, Babb R, Chandrasekaran D, Sharpe PT (2017) Promotion of natural tooth repair by small molecule GSK3 antagonists. Sci Rep 7:39654

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  40. Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B (2012) Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology 78:897–903

    Article  PubMed  CAS  Google Scholar 

  41. Picard C, McCarl CA, Papolos A, Khalil S, Lüthy K, Hivroz C, LeDeist F, Rieux-Laucat F, Rechavi G, Rao A, Fischer A, Feske S (2009) STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med 360:1971–1980

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  42. Pluk H, van Hoeve BJ, van Dooren SH, Stammen-Vogelzangs J, van der Heijden A, Schelhaas HJ, Verbeek MM, Badrising UA, Arnardottir S, Gheorghe K, Lundberg IE, Boelens WC, van Engelen BG, Pruijn GJ (2013) Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis. Ann Neurol 73:397–407

    Article  PubMed  CAS  Google Scholar 

  43. Ramanathan S, Langguth D, Hardy TA, Garg N, Bundell C, Rojana-Udomsart A, Dale RC, Robertson T, Mammen AL, Reddel SW (2015) Clinical course and treatment of anti-HMGCR antibody-associated necrotizing autoimmune myopathy. Neurol Neuroimmunol Neuroinflamm 2:e96

    Article  PubMed  PubMed Central  Google Scholar 

  44. Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS (1999) Calpainopathy—a survey of mutations and polymorphisms. Am J Hum Genet 64:1524–1540

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  45. Rose MR, Group EIW (2013) 188th ENMC international workshop: inclusion body myositis, 2–4 December 2011, Naarden, The Netherlands. Neuromuscul Disord 23:1044–1055

    Article  Google Scholar 

  46. Salajegheh M, Lam T, Greenberg SA (2011) Autoantibodies against a 43 KDa muscle protein in inclusion body myositis. PLoS One 6:e20266

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  47. Salviati G, Pierobon-Bormioli S, Betto R, Damiani E, Angelini C, Ringel SP, Salvatori S, Margreth A (1985) Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications. Muscle Nerve 8:299–306

    Article  PubMed  CAS  Google Scholar 

  48. Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H (2013) 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. Hum Mutat 34:1111–1118

    Article  PubMed  CAS  Google Scholar 

  49. Schwartz M, Hertz JM, Sveen ML, Vissing J (2005) LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology 64:1635–1637

    Article  PubMed  CAS  Google Scholar 

  50. Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H (2011) Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 88:162–172

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  51. Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C (2016) A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8:1289–1309

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  52. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M (2004) A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 12:1033–1040

    Article  PubMed  CAS  Google Scholar 

  53. Sussman J (2016) Thymectomy: the more you know, the more you know you don’t know. Pract Neurol 16:426–427

    Article  PubMed  Google Scholar 

  54. Tolosa E, Litvan I, Höglinger GU, Burn D, Lees A, Andrés MV, Gómez-Carrillo B, León T, Del Ser T, Investigators T (2014) A phase 2 trial of the GSK-3 inhibitor tideglusib in progressive supranuclear palsy. Mov Disord 29:470–478

    Article  PubMed  CAS  Google Scholar 

  55. Van De Vlekkert J, Maas M, Hoogendijk JE, De Visser M, Van Schaik IN (2015) Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy. Muscle Nerve 51:253–258

    Article  Google Scholar 

  56. van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB (2013) ANO5 mutations in the Dutch limb girdle muscular dystrophy population. Neuromuscul Disord 23:456–460

    Article  PubMed  Google Scholar 

  57. Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M (2014) A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 23:4103–4110

    Article  PubMed  CAS  Google Scholar 

  58. Watanabe Y, Suzuki S, Nishimura H, Murata KY, Kurashige T, Ikawa M, Asahi M, Konishi H, Mitsuma S, Kawabata S, Suzuki N, Nishino I (2015) Statins and myotoxic effects associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: an observational study in Japan. Medicine (Baltimore) 94:e416

    Article  CAS  Google Scholar 

  59. Werner JL, Christopher-Stine L, Ghazarian SR, Pak KS, Kus JE, Daya NR, Lloyd TE, Mammen AL (2012) Antibody levels correlate with creatine kinase levels and strength in anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase-associated autoimmune myopathy. Arthritis Rheum 64:4087–4093

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  60. Willcocks RJ, Rooney WD, Triplett WT, Forbes SC, Lott DJ, Senesac CR, Daniels MJ, Wang DJ, Harrington AT, Tennekoon GI, Russman BS, Finanger EL, Byrne BJ, Finkel RS, Walter GA, Sweeney HL, Vandenborne K (2016) Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Ann Neurol 79:535–547

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  61. Wolfe GI, Kaminski HJ, Cutter GR (2016) Randomized trial of thymectomy in myasthenia gravis. N Engl J Med 375:2006–2007

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to J. Witherick.

Ethics declarations

Conflicts of interest

JW reports no disclosures. SB received a travel bursary from Sanofi-Genzyme in 2016.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Witherick, J., Brady, S. Update on muscle disease. J Neurol 265, 1717–1725 (2018). https://doi.org/10.1007/s00415-018-8856-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-018-8856-1

Keywords

Navigation