Neuromuscular Disorders
Volume 20, Issue 7 , Pages 471-475 , July 2010

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

  • Rabi Tawil

      Affiliations

    • Fields Center for FSHD and Neuromuscular Research, Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 585 275 6372; fax: +1 585 273 1255.
  • ,
  • Silvere van der Maarel

      Affiliations

    • Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
  • ,
  • George W. Padberg

      Affiliations

    • Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • ,
  • Baziel G.M. van Engelen

      Affiliations

    • Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

References 

  1. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34:1–15
  2. de Greef JC, Frants RR, van der Maarel SM. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res. 2008;64:94–102
  3. Goto K, Nishino I, Hayashi YK. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2006;(4):256–261
  4. de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009;(10):1449–1459
  5. Milner-Brown HS, Miller RG. Muscle strengthening through high-resistance weight training in patients with neuromuscular disorders. Arch Phys Med Rehabil. 1988;69(1):14–19
  6. van der Kooi EL, Vogels OJ, van Asseldonk RJ, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004;63(4):702–708
  7. Olsen DB, Orngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. 2005;64:1064–1066
  8. van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JC, van Engelen BG, Bleijenberg G, et al. Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol. 2007;254:931–940
  9. Miro J, et al. Impact of biopsychosocial factors on chronic pain in persons with myotonic dystrophy and faciopscapulohumeral muscular dystrophy. Am J Hosp Palliat Care. 2009;26:308–319
  10. Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral muscular dystrophy. Arch Phys Med Rehabil. 2008;89:320–329
  11. Bushby KM, Pollitt C, Johnson MA, Rogers MT, Chinnery PF. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscular Disord. 1998;(8):574–579
  12. Kalkman JS, Schillings ML, van der Werf SP, et al. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-1. Neurol Neurosurg Psychiatry. 2005;76(10):1406–1409
  13. Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. 2004;63(1):176–178
  14. Mummery CU, Copeland SA, Rose MR. Scapular fixation in muscular dystrophy. Chochrane Database Syst Rev. 2003;(3):CD003278
  15. Rhee YG, Ha JH. Long term results of scapulothoracic arthrodesis of facioscapulohumeral muscular dystrophy. J Shoulder Elbow Surg. 2006;15:445–450
  16. Giannini S, Faldini C, Pagkrati S, et al. Fixation of winged scapula in FSHD. Clin Med Res. 2007;(3):155–162
  17. Diab M, Darras BT, Shapiro F. Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. J Bone Joint Surg Am. 2005;87(10):2267–2275
  18. Demirhan M, Uysal O, Atalar AC, Kilicoglu O, Serdaroglu P. Scapulothoracic arthrodes in facioscapulohumeral dystrophy with multifilament cables. Clin Orthod Relat Res. 2009;467(8):2090–2097
  19. Wolfe GU, Young PK, Nations SP, et al. Brachial plexopathy following thoracoscuplar fusion in FSH muscular dystrophy. Neurology. 2005;64:572–573
  20. Laforet P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology. 1998;51(5):1454–1456
  21. Ciafaloni E, Pressman EK, Lori AM, et al. Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology. 2006;67(10):1887–1889
  22. Rudnik-Schoneborn S, Golner B, Rohrig D, Zerres K. Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies. Arch Neurol. 1997;54:888–894
  23. Trevisan CP, Pastorella E, Ermani M, et al. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol. 2008;13:1–6
  24. Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain. 1987;110:631–648
  25. Padberg GW, Brouwer OF, de Keizer RF, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve. 1995;2:S73–80
  26. Personius KE, Pandya S, King WM, Tawil R, McDermott MP. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther. 1994;74:253–263
  27. The FSH-DY Group. A prospective, quantitative study of the natural history of 65b facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. Neurology. 1997;48(1):38–46
  28. Kissel JT, McDermott MP, Mendell JR, et al. Randomized double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001;57(8):1434–1440
  29. Wagner KR, Fleckenstein JL, Amato AA, et al. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008;63(5):561–571
  30. Patrick DL, Deyo RA. Generic and disease-specific measures in assessing health status and quality of life. Med Care. 1989;27:S217–S232
  31. Wiklund I, Dimenas E, Wahl M. Factors of importance when evaluating quality of life in clinical trials. Control Clin Trials. 1990;11:169–179
  32. Pillen S, Arts IMP, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve. 2008;37:679–693

PII: S0960-8966(10)00188-4

doi: 10.1016/j.nmd.2010.04.007

Neuromuscular Disorders
Volume 20, Issue 7 , Pages 471-475 , July 2010