Imaging of Skeletal Muscle in Neuromuscular Disease: A Clinical Perspective

Part of the Medical Radiology book series (MEDRAD)


Neuromuscular diseases result from pathologic processes affecting the peripheral nerve, neuromuscular junction, or muscle. The clinical phenotypes of these differing disorders may overlap, creating difficulty in making an exact diagnosis. Skeletal muscle imaging offers a noninvasive means of obtaining detailed information on the presence and pattern of pathology that may augment the evaluation. In addition to diagnosis, imaging of muscle may prove valuable for longitudinal study of individual patients. While computed tomography (CT) and ultrasonography (US) are utilized, magnetic resonance imaging (MRI) provides a superior view of muscle. Additional studies will determine the best methods of imaging and their exact role in the care of patients with neuromuscular disease.


Muscular Dystrophy Duchenne Muscular Dystrophy Spinal Muscular Atrophy Duchenne Muscular Dystrophy Neuromuscular Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Abou-Zeid E, Boursoulian LJ, Metzer WS, Gundogdu B (2012) Morvan syndrome: a case report and review of the literature. J Clin Neuromuscul Dis 13(4):214–227. doi: 10.1097/CND.0b013e31822b1977 PubMedGoogle Scholar
  2. Achi EY, Rudnicki SA (2012) ALS and frontotemporal dysfunction: a review. Neurol Res Int 2012:806306. doi: 10.1155/2012/806306 PubMedCentralPubMedGoogle Scholar
  3. Adler RS, Garolfalo G, Paget S, Kagen L (2008) Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol 37(1):43–48. doi: 10.1007/s00256-007-0367-6 PubMedGoogle Scholar
  4. Amarteifio E, Nagel AM, Kauczor HU, Weber MA (2011) Functional imaging in muscular diseases. Insights Imaging 2(5):609–619. doi: 10.1007/s13244-011-0111-6 PubMedCentralPubMedGoogle Scholar
  5. Andrews J, Hall MA (2002) Dermatomyositis-scleroderma overlap syndrome presenting as autoimmune haemolytic anaemia. Rheumatology (Oxford) 41(8):956–958Google Scholar
  6. Arts IM, Pillen S, Overeem S, Schelhaas HJ, Zwarts MJ (2007) Rise and fall of skeletal muscle size over the entire life span. J Am Geriatr Soc 55(7):1150–1152. doi: 10.1111/j.1532-5415.2007.01228.x PubMedGoogle Scholar
  7. Baur A, Reiser MF (2000) Diffusion-weighted imaging of the musculoskeletal system in humans. Skeletal Radiol 29(10):555–562PubMedGoogle Scholar
  8. Bazzani C, Cavazzana I, Ceribelli A, Vizzardi E, Dei Cas L, Franceschini F (2010) Cardiological features in idiopathic inflammatory myopathies. J Cardiovasc Med (Hagerstown) 11(12):906–911. doi: 10.2459/JCM.0b013e32833cdca8 Google Scholar
  9. Berciano J, Gallardo E, Fernandez-Torre JL, Gonzalez-Quintanilla V, Infante J (2012) Magnetic resonance imaging of lower limb musculature in acute motor axonal neuropathy. J Neurol 259(6):1111–1116. doi: 10.1007/s00415-011-6309-1 PubMedGoogle Scholar
  10. Bohan A, Peter JB (1975a) Polymyositis and dermatomyositis (first of two parts). N Engl J Med 292(7):344–347. doi: 10.1056/NEJM197502132920706 PubMedGoogle Scholar
  11. Bohan A, Peter JB (1975b) Polymyositis and dermatomyositis (second of two parts). N Engl J Med 292(8):403–407. doi: 10.1056/NEJM197502202920807 PubMedGoogle Scholar
  12. Bonnemann CG (2011) The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. Handb Clin Neurol 101:81–96. doi: 10.1016/b978-0-08-045031-5.00005-0 PubMedGoogle Scholar
  13. Bonnemann CG, Brockmann K, Hanefeld F (2003) Muscle ultrasound in Bethlem myopathy. Neuropediatrics 34(6):335–336. doi: 10.1055/s-2003-44665 PubMedGoogle Scholar
  14. Brockmann K, Becker P, Schreiber G, Neubert K, Brunner E, Bonnemann C (2007) Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood. Neuromuscul Disord 17(7):517–523. doi: 10.1016/j.nmd.2007.03.015 PubMedGoogle Scholar
  15. Burge JA, Hanna MG (2012) Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep 12(1):62–69. doi: 10.1007/s11910-011-0238-3 PubMedGoogle Scholar
  16. Callen JP (2010) Cutaneous manifestations of dermatomyositis and their management. Curr Rheumatol Rep 12(3):192–197. doi: 10.1007/s11926-010-0100-7 PubMedGoogle Scholar
  17. Calo M, Crisi G, Martinelli C, Colombo A, Schoenhuber R, Gibertoni M (1986) CT and the diagnosis of myopathies. Preliminary findings in 42 cases. Neuroradiology 28(1):53–57PubMedGoogle Scholar
  18. Campbell CA, Turza KC, Morgan RF (2009) Postoperative outcomes and reliability of “sensation-sparing” sural nerve biopsy. Muscle Nerve 40(4):603–609. doi: 10.1002/mus.21347 PubMedGoogle Scholar
  19. Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, Annane D, Carlier PG, Orlikowski D (2011) Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord 21(11):791–799. doi: 10.1016/j.nmd.2011.06.748 PubMedGoogle Scholar
  20. Cartwright MS, Chloros GD, Walker FO, Wiesler ER, Campbell WW (2007) Diagnostic ultrasound for nerve transection. Muscle Nerve 35(6):796–799. doi: 10.1002/mus.20761 PubMedGoogle Scholar
  21. Casciola-Rosen L, Hall JC, Mammen AL, Christopher-Stine L, Rosen A (2012) Isolated elevation of aldolase in the serum of myositis patients: a potential biomarker of damaged early regenerating muscle cells. Clin Exp Rheumatol 30(4):548–553PubMedCentralPubMedGoogle Scholar
  22. Chapman S, Southwood TR, Fowler J, Ryder CA (1994) Rapid changes in magnetic resonance imaging of muscle during the treatment of juvenile dermatomyositis. Br J Rheumatol 33(2):184–186PubMedGoogle Scholar
  23. Chino K, Akagi R, Dohi M, Fukashiro S, Takahashi H (2012) Reliability and validity of quantifying absolute muscle hardness using ultrasound elastography. PLoS One 7(9):e45764. doi: 10.1371/journal.pone.0045764 PubMedCentralPubMedGoogle Scholar
  24. Chuquilin M, Al-Lozi M (2011) Primary amyloidosis presenting as “dropped head syndrome”. Muscle Nerve 43(6):905–909. doi: 10.1002/mus.22049 PubMedGoogle Scholar
  25. Collins MP, Mendell JR, Periquet MI, Sahenk Z, Amato AA, Gronseth GS, Barohn RJ, Jackson CE, Kissel JT (2000) Superficial peroneal nerve/peroneus brevis muscle biopsy in vasculitic neuropathy. Neurology 55(5):636–643PubMedGoogle Scholar
  26. Connor A, Stebbings S, Anne Hung N, Hammond-Tooke G, Meikle G, Highton J (2007) STIR MRI to direct muscle biopsy in suspected idiopathic inflammatory myopathy. J Clin Rheumatol 13(6):341–345. doi: 10.1097/RHU.0b013e31815dca0a PubMedGoogle Scholar
  27. Costa AF, Di Primio GA, Schweitzer ME (2012) Magnetic resonance imaging of muscle disease: a pattern-based approach. Muscle Nerve 46(4):465–481. doi: 10.1002/mus.23370 PubMedGoogle Scholar
  28. Dahlbom K, Lindberg C, Oldfors A (2002) Inclusion body myositis: morphological clues to correct diagnosis. Neuromuscul Disord 12(9):853–857PubMedGoogle Scholar
  29. D’Amico A, Mercuri E, Tiziano FD, Bertini E (2011) Spinal muscular atrophy. Orphanet J Rare Dis 6:71. doi: 10.1186/1750-1172-6-71 PubMedCentralPubMedGoogle Scholar
  30. Davis WR, Halls JE, Offiah AC, Pilkington C, Owens CM, Rosendahl K (2011) Assessment of active inflammation in juvenile dermatomyositis: a novel magnetic resonance imaging-based scoring system. Rheumatology (Oxford) 50(12):2237–2244. doi: 10.1093/rheumatology/ker262 Google Scholar
  31. De Beuckeleer L, Vanhoenacker F, De Schepper A Jr, Seynaeve P, De Schepper A (1999) Hypertrophy and pseudohypertrophy of the lower leg following chronic radiculopathy and neuropathy: imaging findings in two patients. Skeletal Radiol 28(4):229–232PubMedGoogle Scholar
  32. de Carvalho M, Swash M (2013) Fasciculation potentials and earliest changes in motor unit physiology in ALS. J Neurol Neurosurg Psychiatry. doi: 10.1136/jnnp-2012-304545 Google Scholar
  33. Del Gaizo A, Banerjee S, Terk M (2009) Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases. Skeletal Radiol 38(12):1205–1208. doi: 10.1007/s00256-009-0797-4 PubMedGoogle Scholar
  34. Del Grande F, Carrino JA, Del Grande M, Mammen AL, Christopher Stine L (2011) Magnetic resonance imaging of inflammatory myopathies. Top Magn Reson Imaging 22(2):39–43. doi: 10.1097/RMR.0b013e31825b2c35 PubMedGoogle Scholar
  35. Dimachkie MM, Barohn RJ (2013) Inclusion body myositis. Curr Neurol Neurosci Rep 13(1):321. doi: 10.1007/s11910-012-0321-4 PubMedGoogle Scholar
  36. Dion E, Cherin P, Payan C, Fournet JC, Papo T, Maisonobe T, Auberton E, Chosidow O, Godeau P, Piette JC, Herson S, Grenier P (2002) Magnetic resonance imaging criteria for distinguishing between inclusion body myositis and polymyositis. J Rheumatol 29(9):1897–1906PubMedGoogle Scholar
  37. el-Noueam KI, Schweitzer ME, Bhatia M, Bartolozzi AR (1997) The utility of contrast-enhanced MRI in diagnosis of muscle injuries occult to conventional MRI. J Comput Assist Tomogr 21(6):965–968PubMedGoogle Scholar
  38. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ (2009) Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM R 1 (1):5–13. doi: 10.1016/j.pmrj.2008.11.010
  39. Evans GF, Haller RG, Wyrick PS, Parkey RW, Fleckenstein JL (1998) Submaximal delayed-onset muscle soreness: correlations between MR imaging findings and clinical measures. Radiology 208(3):815–820PubMedGoogle Scholar
  40. Fermont J, Arts IM, Overeem S, Kleine BU, Schelhaas HJ, Zwarts MJ (2010) Prevalence and distribution of fasciculations in healthy adults: Effect of age, caffeine consumption and exercise. Amyotroph Lateral Scler 11(1–2):181–186. doi: 10.3109/17482960903062137 PubMedGoogle Scholar
  41. Finanger EL, Russman B, Forbes SC, Rooney WD, Walter GA, Vandenborne K (2012) Use of skeletal muscle MRI in diagnosis and monitoring disease progression in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am 23 (1):1–10, ix. doi: 10.1016/j.pmr.2011.11.004 Google Scholar
  42. Fujita H, Ishimatsu Y, Motomura M, Kakugawa T, Sakamoto N, Hayashi T, Kohno S (2011) A case of acute sarcoid myositis treated with weekly low-dose methotrexate. Muscle Nerve 44(6):994–999. doi: 10.1002/mus.22222 PubMedGoogle Scholar
  43. Galban-Horcajo F, Fitzpatrick AM, Hutton AJ, Dunn SM, Kalna G, Brennan KM, Rinaldi S, Yu RK, Goodyear CS, Willison HJ (2013) Antibodies to heteromeric glycolipid complexes in multifocal motor neuropathy. Eur J Neurol 20(1):62–70. doi: 10.1111/j.1468-1331.2012.03767.x PubMedGoogle Scholar
  44. Goh G, Choi M (2012) Application of whole exome sequencing to identify disease-causing variants in inherited human diseases. Genomics Inform 10(4):214–219. doi: 10.5808/gi.2012.10.4.214 PubMedCentralPubMedGoogle Scholar
  45. Gojanovic B, Feihl F, Liaudet L, Gremion G, Waeber B (2011) Whole-body vibration training elevates creatine kinase levels in sedentary subjects. Swiss Med Wkly 141:w13222. doi: 10.4414/smw.2011.13222 PubMedGoogle Scholar
  46. Gunreben G, Bogdahn U (1991) Real-time sonography of acute and chronic muscle denervation. Muscle Nerve 14(7):654–664. doi: 10.1002/mus.880140709 PubMedGoogle Scholar
  47. Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT (2005) Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 64(12):2139–2141. doi: 10.1212/01.wnl.0000165979.46537.56 PubMedGoogle Scholar
  48. Heckmatt JZ, Pier N, Dubowitz V (1988a) Assessment of quadriceps femoris muscle atrophy and hypertrophy in neuromuscular disease in children. J Clin Ultrasound 16(3):177–181PubMedGoogle Scholar
  49. Heckmatt JZ, Pier N, Dubowitz V (1988b) Real-time ultrasound imaging of muscles. Muscle Nerve 11(1):56–65. doi: 10.1002/mus.880110110 PubMedGoogle Scholar
  50. Heckmatt J, Rodillo E, Doherty M, Willson K, Leeman S (1989) Quantitative sonography of muscle. J Child Neurol 4(Suppl):S101–S106PubMedGoogle Scholar
  51. Hernandez RJ, Keim DR, Sullivan DB, Chenevert TL, Martel W (1990) Magnetic resonance imaging appearance of the muscles in childhood dermatomyositis. J Pediatr 117(4):546–550PubMedGoogle Scholar
  52. Hernandez RJ, Sullivan DB, Chenevert TL, Keim DR (1993) MR imaging in children with dermatomyositis: musculoskeletal findings and correlation with clinical and laboratory findings. AJR Am J Roentgenol 161(2):359–366PubMedGoogle Scholar
  53. Herrera E, Sandoval MC, Camargo DM, Salvini TF (2010) Motor and sensory nerve conduction are affected differently by ice pack, ice massage, and cold water immersion. Phys Ther 90(4):581–591. doi: 10.2522/ptj.20090131 PubMedGoogle Scholar
  54. Hobson-Webb LD, Kishnani PS (2012) How common is misdiagnosis in late-onset Pompe disease? Muscle Nerve 45(2):301–302. doi: 10.1002/mus.22296 PubMedGoogle Scholar
  55. Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS (2010) The electrodiagnostic characteristics of Glycogen Storage Disease Type III. Genet Med 12(7):440–445. doi: 10.1097/GIM.0b013e3181cd735b PubMedGoogle Scholar
  56. Hudash G, Albright JP, McAuley E, Martin RK, Fulton M (1985) Cross-sectional thigh components: computerized tomographic assessment. Med Sci Sports Exerc 17(4):417–421PubMedGoogle Scholar
  57. Huppertz HI, Kaiser WA (1994) Serial magnetic resonance imaging in juvenile dermatomyositis–delayed normalization. Rheumatol Int 14(3):127–129PubMedGoogle Scholar
  58. Jansen M, van Alfen N, Nijhuis van der Sanden MW, van Dijk JP, Pillen S, de Groot IJ (2012) Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy. Neuromuscul Disord 22(4):306–317. doi: 10.1016/j.nmd.2011.10.020 PubMedGoogle Scholar
  59. Juel VC, Massey JM (2007) Myasthenia gravis. Orphanet J Rare Dis 2:44. doi: 10.1186/1750-1172-2-44 PubMedCentralPubMedGoogle Scholar
  60. Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14(12):785–790. doi: 10.1016/j.nmd.2004.08.006 PubMedGoogle Scholar
  61. Kamath S, Venkatanarasimha N, Walsh MA, Hughes PM (2008) MRI appearance of muscle denervation. Skeletal Radiol 37(5):397–404. doi: 10.1007/s00256-007-0409-0 PubMedGoogle Scholar
  62. Keim DR, Hernandez RJ, Sullivan DB (1991) Serial magnetic resonance imaging in juvenile dermatomyositis. Arthritis Rheum 34(12):1580–1584PubMedGoogle Scholar
  63. Khan S, Christopher-Stine L (2011) Polymyositis, dermatomyositis, and autoimmune necrotizing myopathy: clinical features. Rheum Dis Clin North Am 37(2):143–158. doi: 10.1016/j.rdc.2011.01.001 PubMedGoogle Scholar
  64. Kim HK, Laor T, Horn PS, Racadio JM, Wong B, Dardzinski BJ (2010) T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments. Radiology 255(3):899–908. doi: 10.1148/radiol.10091547 PubMedGoogle Scholar
  65. Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F (2011) Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol 68(9):1171–1179. doi: 10.1001/archneurol.2011.188 PubMedGoogle Scholar
  66. Kullmer K, Sievers KW, Reimers CD, Rompe JD, Muller-Felber W, Nagele M, Harland U (1998) Changes of sonographic, magnetic resonance tomographic, electromyographic, and histopathologic findings within a 2-month period of examinations after experimental muscle denervation. Arch Orthop Trauma Surg 117(4–5):228–234PubMedGoogle Scholar
  67. Kuo GP, Carrino JA (2007) Skeletal muscle imaging and inflammatory myopathies. Curr Opin Rheumatol 19(6):530–535. doi: 10.1097/BOR.0b013e3282efdc66 PubMedGoogle Scholar
  68. Lam WW, Chan H, Chan YL, Fung JW, So NM, Metreweli C (1999) MR imaging in amyopathic dermatomyositis. Acta Radiol 40(1):69–72PubMedGoogle Scholar
  69. Le Roux K, Streichenberger N, Vial C, Petiot P, Feasson L, Bouhour F, Ninet J, Lachenal F, Broussolle C, Seve P (2007) Granulomatous myositis: a clinical study of thirteen cases. Muscle Nerve 35(2):171–177. doi: 10.1002/mus.20683 PubMedGoogle Scholar
  70. Lovitt S, Moore SL, Marden FA (2006) The use of MRI in the evaluation of myopathy. Clin Neurophysiol 117(3):486–495. doi: 10.1016/j.clinph.2005.10.010 PubMedGoogle Scholar
  71. Ludolph AC, Brettschneider J, Weishaupt JH (2012) Amyotrophic lateral sclerosis. Curr Opin Neurol 25(5):530–535. doi: 10.1097/WCO.0b013e328356d328 PubMedGoogle Scholar
  72. Lyons MK (2009) Nerve rootlet and fascicular biopsy in patients with hypertrophic inflammatory neuropathy. Neurologist 15(1):40–41. doi: 10.1097/NRL.0b013e31817882c8 PubMedGoogle Scholar
  73. Maillard SM, Jones R, Owens C, Pilkington C, Woo P, Wedderburn LR, Murray KJ (2004) Quantitative assessment of MRI T2 relaxation time of thigh muscles in juvenile dermatomyositis. Rheumatology (Oxford) 43(5):603–608. doi: 10.1093/rheumatology/keh130 Google Scholar
  74. Marden FA, Connolly AM, Siegel MJ, Rubin DA (2005) Compositional analysis of muscle in boys with Duchenne muscular dystrophy using MR imaging. Skeletal Radiol 34(3):140–148. doi: 10.1007/s00256-004-0825-3 PubMedGoogle Scholar
  75. Marti R, Nascimento A, Colomer J, Lara MC, Lopez-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M (2010) Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. Pediatr Res 68(2):151–154. doi: 10.1203/PDR.0b013e3181e33bbe PubMedGoogle Scholar
  76. Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG (2010) The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 133(Pt 1):9–22. doi:  10.1093/brain/awp294 PubMedCentralPubMedGoogle Scholar
  77. Maurits NM, Bollen AE, Windhausen A, De Jager AE, Van Der Hoeven JH (2003) Muscle ultrasound analysis: normal values and differentiation between myopathies and neuropathies. Ultrasound Med Biol 29(2):215–225. doi:  S0301562902007585 [pii]PubMedGoogle Scholar
  78. Maurits NM, Beenakker EA, van Schaik DE, Fock JM, van der Hoeven JH (2004) Muscle ultrasound in children: normal values and application to neuromuscular disorders. Ultrasound Med Biol 30(8):1017–1027. doi:  10.1016/j.ultrasmedbio.2004.05.013 PubMedGoogle Scholar
  79. May DA, Disler DG, Jones EA, Balkissoon AA, Manaster BJ (2000) Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls. Radiographics 20 Spec No: S295-315Google Scholar
  80. Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungbluth H, Sewry C, Brown SC, Pepe G, Muntoni F (2002a) Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 6(6):309–314. doi:  S1090379802906185 [pii]PubMedGoogle Scholar
  81. Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F (2002b) Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 33(1):10–14. doi:  10.1055/s-2002-23593 PubMedGoogle Scholar
  82. Mercuri E, Jungbluth H, Muntoni F (2005a) Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol 18(5):526–537. doi:  00019052-200510000-00008 [pii]PubMedGoogle Scholar
  83. Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F (2005b) Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 15(4):303–310. doi:  S0960-8966(05)00024-6 [pii]PubMedGoogle Scholar
  84. 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(2):201–208. doi:  10.1002/ana.21846 PubMedGoogle Scholar
  85. Meriggioli MN, Sanders DB (2012) Muscle autoantibodies in myasthenia gravis: beyond diagnosis? Expert Rev Clin Immunol 8(5):427–438. doi:  10.1586/eci.12.34 PubMedCentralPubMedGoogle Scholar
  86. Mimori T, Nakashima R, Hosono Y (2012) Interstitial lung disease in myositis: clinical subsets, biomarkers, and treatment. Curr Rheumatol Rep 14(3):264–274. doi:  10.1007/s11926-012-0246-6 PubMedGoogle Scholar
  87. Misawa S, Noto Y, Shibuya K, Isose S, Sekiguchi Y, Nasu S, Kuwabara S (2011) Ultrasonographic detection of fasciculations markedly increases diagnostic sensitivity of ALS. Neurology 77(16):1532–1537. doi:  10.1212/WNL.0b013e318233b36a PubMedGoogle Scholar
  88. Morvan D (1995) In vivo measurement of diffusion and pseudo-diffusion in skeletal muscle at rest and after exercise. Magn Reson Imaging 13(2):193–199PubMedGoogle Scholar
  89. Muley SA, Parry GJ (2012) Multifocal motor neuropathy. J Clin Neurosci 19(9):1201–1209. doi:  10.1016/j.jocn.2012.02.011 PubMedGoogle Scholar
  90. Orrell RW (2011) Facioscapulohumeral dystrophy and scapuloperoneal syndromes. Handb Clin Neurol 101:167–180. doi:  10.1016/b978-0-08-045031-5.00013-x PubMedGoogle Scholar
  91. Ota M, Ikezoe T, Kaneoka K, Ichihashi N (2012) Age-related changes in the thickness of the deep and superficial abdominal muscles in women. Arch Gerontol Geriatr 55(2):e26–e30. doi:  10.1016/j.archger.2012.03.007 PubMedGoogle Scholar
  92. Padua L, Di Pasquale A, Liotta G, Granata G, Pazzaglia C, Erra C, Briani C, Coraci D, De Franco P, Antonini G, Martinoli C (2013) Ultrasound as a useful tool in the diagnosis and management of traumatic nerve lesions. Clin Neurophysiol. doi:  10.1016/j.clinph.2012.10.024 Google Scholar
  93. Palmeri ML, Wang MH, Rouze NC, Abdelmalek MF, Guy CD, Moser B, Diehl AM, Nightingale KR (2011) Noninvasive evaluation of hepatic fibrosis using acoustic radiation force-based shear stiffness in patients with nonalcoholic fatty liver disease. J Hepatol 55(3):666–672. doi:  10.1016/j.jhep.2010.12.019 PubMedCentralPubMedGoogle Scholar
  94. Pantoja PD, Alberton CL, Pilla C, Vendrusculo AP, Kruel LF (2009) Effect of resistive exercise on muscle damage in water and on land. J Strength Cond Res 23(3):1051–1054. doi:  10.1519/JSC.0b013e3181a00c45 PubMedGoogle Scholar
  95. Pestronk A (2011) Acquired immune and inflammatory myopathies: pathologic classification. Curr Opin Rheumatol 23(6):595–604. doi:  10.1097/BOR.0b013e32834bab42 PubMedGoogle Scholar
  96. Petersilge CA, Pathria MN, Gentili A, Recht MP, Resnick D (1995) Denervation hypertrophy of muscle: MR features. J Comput Assist Tomogr 19(4):596–600PubMedGoogle Scholar
  97. Phillips BA, Cala LA, Thickbroom GW, Melsom A, Zilko PJ, Mastaglia FL (2001) Patterns of muscle involvement in inclusion body myositis: clinical and magnetic resonance imaging study. Muscle Nerve 24(11):1526–1534PubMedGoogle Scholar
  98. Pichiecchio A, Uggetti C, Ravaglia S, Egitto MG, Rossi M, Sandrini G, Danesino C (2004) Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord 14(1):51–55PubMedGoogle Scholar
  99. Pillen S, Verrips A, van Alfen N, Arts IM, Sie LT, Zwarts MJ (2007) Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease. Neuromuscul Disord 17(7):509–516. doi:  10.1016/j.nmd.2007.03.008 PubMedGoogle Scholar
  100. Pillen S, Arts IM, Zwarts MJ (2008) Muscle ultrasound in neuromuscular disorders. Muscle Nerve 37(6):679–693. doi:  10.1002/mus.21015 PubMedGoogle Scholar
  101. Pillen S, Tak RO, Zwarts MJ, Lammens MM, Verrijp KN, Arts IM, van der Laak JA, Hoogerbrugge PM, van Engelen BG, Verrips A (2009) Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity. Ultrasound Med Biol 35(3):443–446. doi:  10.1016/j.ultrasmedbio.2008.09.016 PubMedGoogle Scholar
  102. Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS (2012) The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med 14(9):800–810. doi:  10.1038/gim.2012.44 PubMedGoogle Scholar
  103. Pratt AJ, Getzoff ED, Perry JJ (2012) Amyotrophic lateral sclerosis: update and new developments. Degener Neurol Neuromuscul Dis 2:1–14. doi:  10.2147/dnnd.s19803 Google Scholar
  104. Puckelwartz M, McNally EM (2011) Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 101:155–166. doi:  10.1016/b978-0-08-045031-5.00012-8 PubMedGoogle Scholar
  105. Qi J, Olsen NJ, Price RR, Winston JA, Park JH (2008) Diffusion-weighted imaging of inflammatory myopathies: polymyositis and dermatomyositis. J Magn Reson Imaging 27(1):212–217. doi:  10.1002/jmri.21209 PubMedGoogle Scholar
  106. Quijano-Roy S, Avila-Smirnow D, Carlier RY (2012) Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 22(Suppl 2):S68–S84. doi:  10.1016/j.nmd.2012.08.003 PubMedGoogle Scholar
  107. Reimers CD (2000) Imaging in myology: a neurologist’s perspective. Semin Musculoskelet Radiol 4(4):367–373. doi:  10.1055/s-2000-13161 PubMedGoogle Scholar
  108. Reimers CD, Schedel H, Fleckenstein JL, Nagele M, Witt TN, Pongratz DE, Vogl TJ (1994a) Magnetic resonance imaging of skeletal muscles in idiopathic inflammatory myopathies of adults. J Neurol 241(5):306–314PubMedGoogle Scholar
  109. Reimers CD, Schedel H, Fleckenstein JL, Nagele M, Witt TN, Pongratz DE, Vogl TJ (1994b) Magnetic resonance imaging of skeletal muscles in idiopathic inflammatory myopathies of adults. J Neurol 241(5):306–314PubMedGoogle Scholar
  110. Reimers CD, Schlotter B, Eicke BM, Witt TN (1996a) Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. J Neurol Sci 143(1–2):46–56PubMedGoogle Scholar
  111. Reimers CD, Ziemann U, Scheel A, Rieckmann P, Kunkel M, Kurth C (1996b) Fasciculations: clinical, electromyographic, and ultrasonographic assessment. J Neurol 243(8):579–584PubMedGoogle Scholar
  112. Rudnicki SA (2010) Prevention and treatment of peripheral neuropathy after bariatric surgery. Curr Treat Options Neurol 12(1):29–36. doi: doi: 10.1007/s11940-009-0052-2 PubMedGoogle Scholar
  113. Ruoff JM, van der Sluijs JA, van Ouwerkerk WJ, Jaspers RT (2012) Musculoskeletal growth in the upper arm in infants after obstetric brachial plexus lesions and its relation with residual muscle function. Dev Med Child Neurol 54(11):1050–1056. doi:  10.1111/j.1469-8749.2012.04383.x PubMedGoogle Scholar
  114. Sanders DB, Juel VC (2008) The Lambert-Eaton myasthenic syndrome. Handb Clin Neurol 91:273–283. doi:  10.1016/s0072-9752(07)01509-6 PubMedGoogle Scholar
  115. Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF (2008) Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. Eur Radiol 18(12):2922–2936. doi:  10.1007/s00330-008-1071-1 PubMedGoogle Scholar
  116. Schrier SA, Falk MJ (2011) Mitochondrial disorders and the eye. Curr Opin Ophthalmol 22(5):325–331. doi:  10.1097/ICU.0b013e328349419d PubMedCentralPubMedGoogle Scholar
  117. Schweitzer ME, Fort J (1995) Cost-effectiveness of MR imaging in evaluating polymyositis. AJR Am J Roentgenol 165(6):1469–1471PubMedGoogle Scholar
  118. Simon NG, Kiernan MC (2013) Fasciculation anxiety syndrome in clinicians. J Neurol. doi:  10.1007/s00415-013-6856-8 Google Scholar
  119. Stiglbauer R, Graninger W, Prayer L, Kramer J, Schurawitzki H, Machold K, Imhof H (1993) Polymyositis: MRI-appearance at 1.5 T and correlation to clinical findings. Clin Radiol 48(4):244–248PubMedGoogle Scholar
  120. Stonecipher MR, Jorizzo JL, Monu J, Walker F, Sutej PG (1994) Dermatomyositis with normal muscle enzyme concentrations. A single-blind study of the diagnostic value of magnetic resonance imaging and ultrasound. Arch Dermatol 130(10):1294–1299PubMedGoogle Scholar
  121. Swash M, Brown MM, Thakkar C (1995) CT muscle imaging and the clinical assessment of neuromuscular disease. Muscle Nerve 18(7):708–714. doi:  10.1002/mus.880180706 PubMedGoogle Scholar
  122. Ten Dam L, van der Kooi AJ, van Wattingen M, de Haan RJ, de Visser M (2012) Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology 79(16):1716–1723. doi:  10.1212/WNL.0b013e31826e9b73 PubMedGoogle Scholar
  123. Tomasova Studynkova J, Charvat F, Jarosova K, Vencovsky J (2007) role of MRI in the assessment of polymyositis and dermatomyositis. Rheumatology (Oxford) 46(7):1174–1179. doi: 10.1093/rheumatology/kem088 Google Scholar
  124. Torriani M, Townsend E, Thomas BJ, Bredella MA, Ghomi RH, Tseng BS (2012) Lower leg muscle involvement in Duchenne muscular dystrophy: an MR imaging and spectroscopy study. Skeletal Radiol 41(4):437–445. doi:  10.1007/s00256-011-1240-1 PubMedCentralPubMedGoogle Scholar
  125. Tyler P, Saifuddin A (2010) The imaging of myositis ossificans. Semin Musculoskelet Radiol 14(2):201–216. doi:  10.1055/s-0030-1253161 PubMedGoogle Scholar
  126. van Alfen N, Nienhuis M, Zwarts MJ, Pillen S (2011) Detection of fibrillations using muscle ultrasound: diagnostic accuracy and identification of pitfalls. Muscle Nerve 43(2):178–182. doi:  10.1002/mus.21863 PubMedGoogle Scholar
  127. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362(15):1396–1406. doi:  10.1056/NEJMoa0909859 PubMedGoogle Scholar
  128. Viddeleer AR, Sijens PE, van Ooijen PM, Kuypers PD, Hovius SE, Oudkerk M (2011) MR intensity measurements of nondenervated muscle in patients following severe forearm trauma. NMR Biomed 24(7):895–901. doi:  10.1002/nbm.1647 PubMedGoogle Scholar
  129. Wattjes MP, Kley RA, Fischer D (2010) Neuromuscular imaging in inherited muscle diseases. Eur Radiol 20(10):2447–2460. doi:  10.1007/s00330-010-1799-2 PubMedCentralPubMedGoogle Scholar
  130. Weber MA et al (2007) Quantitative evaluation of muscle perfusion with CEUS and with MR. Eur Radiol 17:2663–2674PubMedGoogle Scholar
  131. Wessig C, Koltzenburg M, Reiners K, Solymosi L, Bendszus M (2004) Muscle magnetic resonance imaging of denervation and reinnervation: correlation with electrophysiology and histology. Exp Neurol 185(2):254–261PubMedGoogle Scholar
  132. Wren TA, Bluml S, Tseng-Ong L, Gilsanz V (2008) Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study. AJR Am J Roentgenol 190(1):W8–W12. doi:  10.2214/AJR.07.2732 PubMedGoogle Scholar
  133. Zahr ZA, Baer AN (2011) Malignancy in myositis. Curr Rheumatol Rep 13(3):208–215. doi:  10.1007/s11926-011-0169-7 PubMedGoogle Scholar
  134. Zaidman CM, Connolly AM, Malkus EC, Florence JM, Pestronk A (2010) Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy. Neuromuscul Disord 20(12):805–809. doi:  10.1016/j.nmd.2010.06.019 PubMedCentralPubMedGoogle Scholar
  135. Zaidman CM, Malkus EC, Siener C, Florence J, Pestronk A, Al-Lozi M (2011) Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency. Muscle Nerve 44(3):418–423. doi:  10.1002/mus.22088 PubMedCentralPubMedGoogle Scholar
  136. Zaidman CM, Holland MR, Noetzel MJ, Park TS, Pestronk A (2012) Newborn brachial plexus palsy: Evaluation of severity using quantitative ultrasound of muscle. Muscle Nerve. doi:  10.1002/mus.23518 PubMedGoogle Scholar
  137. Zuberi SM, Matta N, Nawaz S, Stephenson JB, McWilliam RC, Hollman A (1999) Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood. Neuromuscul Disord 9(4):203–207PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Department of Neurology, Neuromuscular Division and Division of Child NeurologyWashington University in Saint Louis School of MedicineSt. LouisUSA
  2. 2.Department of NeurologyDuke University Medical CenterDurhamUSA

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