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Tawil R, Kissel JT, Heatwole C, et al. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015;85(4):357-64doi: 10.1212/WNL.0000000000001783.
Tawil, R., Kissel, J. T., Heatwole, C., Pandya, S., Gronseth, G., Benatar, M. (2015). Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology, 85(4), 357-64. https://doi.org/10.1212/WNL.0000000000001783
Tawil, Rabi, et al. "Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine." Neurology vol. 85,4 (2015): 357-64. doi: https://doi.org/10.1212/WNL.0000000000001783
Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783. PMID: 26215877; PMCID: PMC4520817.
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Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783.

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology

Rabi Tawil, John T Kissel, Chad Heatwole, Shree Pandya, Gary Gronseth, Michael Benatar,

Affiliations

  1. From the MDA Neuromuscular Disease Clinic (R.T.) and the Department of Neurology (C.H., S.P.), School of Medicine and Dentistry, University of Rochester Medical Center, NY; the Department of Neurology (J.T.K.), Wexner Medical Center, Ohio State University, Columbus; the Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and the Department of Neurology (M.B.), Miller School of Medicine, University of Miami, OH.

PMID: 26215877 PMCID: PMC4520817 DOI: 10.1212/WNL.0000000000001783

Abstract

OBJECTIVE: To develop recommendations for the evaluation, diagnosis, prognostication, and treatment of facioscapulohumeral muscular dystrophy (FSHD) from a systematic review and analysis of the evidence.

METHODS: Relevant articles were analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and treatment studies. Recommendations were linked to the strength of the evidence and other factors.

RESULTS AND RECOMMENDATIONS: Available genetic testing for FSHD type 1 is highly sensitive and specific. Although respiratory insufficiency occurs rarely in FSHD, patients with severe FSHD should have routine pulmonary function testing. Routine cardiac screening is not necessary in patients with FSHD without cardiac symptoms. Symptomatic retinal vascular disease is very rare in FSHD. Exudative retinopathy, however, is potentially preventable, and patients with large deletions should be screened through dilated indirect ophthalmoscopy. The prevalence of clinically relevant hearing loss is not clear. In clinical practice, patients with childhood-onset FSHD may have significant hearing loss. Because undetected hearing loss may impair language development, screening through audiometry is recommended for such patients. Musculoskeletal pain is common in FSHD and treating physicians should routinely inquire about pain. There is at present no effective pharmacologic intervention in FSHD. Available studies suggest that scapular fixation is safe and effective. Surgical scapular fixation might be cautiously offered to selected patients. Aerobic exercise in FSHD appears to be safe and potentially beneficial. On the basis of the evidence, patients with FSHD might be encouraged to engage in low-intensity aerobic exercises.

© 2015 American Academy of Neurology.

References

  1. Neurology. 1997 Jan;48(1):38-46 - PubMed
  2. Neurology. 1998 Jun;50(6):1791-4 - PubMed
  3. Clin Genet. 1999 Feb;55(2):88-94 - PubMed
  4. Genomics. 1995 Aug 10;28(3):389-97 - PubMed
  5. Skelet Muscle. 2014 Jun 10;4:12 - PubMed
  6. J Neurol Sci. 1997 Jul;149(1):73-9 - PubMed
  7. Am J Hum Genet. 2007 Nov;81(5):884-94 - PubMed
  8. Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S131-9 - PubMed
  9. Muscle Nerve. 2010 Nov;42(5):820-1 - PubMed
  10. Muscle Nerve. 1992 May;15(5):591-6 - PubMed
  11. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Jun;18(3):213-5 - PubMed
  12. Hum Mutat. 2009 Oct;30(10):1449-59 - PubMed
  13. Neuromuscul Disord. 2010 Jul;20(7):471-5 - PubMed
  14. Hum Mol Genet. 1993 Dec;2(12):2037-42 - PubMed
  15. Lancet. 1992 Oct 17;340(8825):985-6 - PubMed
  16. J Am Coll Cardiol. 1990 Feb;15(2):292-9 - PubMed
  17. Nat Genet. 2002 Oct;32(2):235-6 - PubMed
  18. Neuromuscul Disord. 2001 Sep;11(6-7):525-9 - PubMed
  19. Am J Hum Genet. 2012 Apr 6;90(4):628-35 - PubMed
  20. Muscle Nerve. 2014 Apr;49(4):520-7 - PubMed
  21. Neurology. 2014 Oct 14;83(16):1453-63 - PubMed
  22. Gene. 1999 Aug 5;236(1):25-32 - PubMed
  23. J Neurol. 2010 Sep;257(9):1457-64 - PubMed
  24. Nat Genet. 2012 Dec;44(12):1370-4 - PubMed
  25. Ann Neurol. 1996 Jun;39(6):744-8 - PubMed
  26. Ann Neurol. 1999 Jun;45(6):751-7 - PubMed
  27. Neurology. 2015 Mar 31;84(13):1369-78 - PubMed
  28. Neuromuscul Disord. 1995 May;5(3):201-8 - PubMed
  29. Science. 2010 Sep 24;329(5999):1650-3 - PubMed
  30. Neuromuscul Disord. 2012 Apr;22(4):339-49 - PubMed
  31. Neurology. 2010 Oct 26;75(17):1548-54 - PubMed
  32. Neurology. 2004 Jul 13;63(1):176-8 - PubMed
  33. PLoS Genet. 2010 Oct;6(10):e1001181 - PubMed
  34. Muscle Nerve. 2006 Jul;34(1):1-15 - PubMed
  35. Neuromuscul Disord. 1991;1(4):231-4 - PubMed
  36. Rev Neurol (Paris). 2012 Dec;168(12):910-8 - PubMed
  37. Muscle Nerve Suppl. 1995;2:S103-9 - PubMed

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