Facioscapulohumeral Dystrophy Differential Diagnoses

  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Feb 3, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Naganand Sripathi, MD  Director, Neuromuscular Clinic, Department of Neurology, Henry Ford Hospital

Naganand Sripathi, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, Michigan State Medical Society, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Specialty Editor Board

James J Riviello Jr, MD  George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

References

  1. Snider L, Asawachaicharn A, Tyler AE, et al. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. 2009;18:2414-2430.

  2. Della Marca G, Frusciante R, Dittoni S, Vollono C, Buccarella C, Iannaccone E, et al. Sleep disordered breathing in facioscapulohumeral muscular dystrophy. J Neurol Sci. Oct 15 2009;285(1-2):54-8. [Medline].

  3. Payan CA, Hogrel JY, Hammouda EH, Lacomblez L, Ollivier G, Doppler V, et al. Periodic salbutamol in facioscapulohumeral muscular dystrophy: a randomized controlled trial. Arch Phys Med Rehabil. Jul 2009;90(7):1094-101. [Medline].

  4. Olsen DB, Orngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. Mar 22 2005;64(6):1064-6. [Medline].

  5. Bunch WH, Siegel IM. Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. Review of seventeen procedures with three to twenty-one-year follow-up. J Bone Joint Surg Am. Mar 1993;75(3):372-6. [Medline].

  6. Demirhan M, Uysal O, Atalar AC, et al. Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable. Clin Orthop Relat Res. in press;2009.

  7. Ricci E, Galluzzi G, Deidda G, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol. Jun 1999;45(6):751-7. [Medline].

  8. Faustmann PM, Farahati J, Rupilius B, et al. Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography. J Neurol Sci. Dec 1996;144(1-2):59-63. [Medline].

  9. Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology. Jun 1998;50(6):1791-4. [Medline].

  10. Gilchrist JM. Other muscular dystrophies. In: Gilchrist JM, ed. Prognosis in Neurology. Butterworth-Heinemann;1998:347-9.

  11. Griggs RC, Mendell JR, Miller RG. The muscular dystrophies. In: Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co;1995:122-8.

  12. Kissel JT, McDermott MP, Mendell JR, et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. Oct 23 2001;57(8):1434-40. [Medline].

  13. Kissel JT, McDermott MP, Natarajan R, et al. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. May 1998;50(5):1402-6. [Medline].

  14. Krasnianski M, Eger K, Neudecker S, et al. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol. Oct 2003;60(10):1421-5. [Medline].

  15. Laoudj-Chenivesse D, Carnac G, Bisbal C, et al. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med. Mar 2005;83(3):216-24. [Medline].

  16. Neudecker S, Krasnianski M, Bahn E, Zierz S. Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature. Acta Neuropathol (Berl). Sep 2004;108(3):257-9. [Medline].

  17. Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. Jul 1 2009;18(13):2414-30. [Medline].

  18. Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol. Mar 1998;43(3):279-82. [Medline].

  19. Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol. Jun 1996;39(6):744-8. [Medline].

  20. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. Jul 2006;34(1):1-15. [Medline].

  21. Walter MC, Lochmuller H, Reilich P, et al. Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study. Neurology. May 9 2000;54(9):1848-50. [Medline].

  22. Winokur ST, Barrett K, Martin JH, et al. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. May 2003;13(4):322-33. [Medline].

  23. Wuebbles RD, Hanel ML, Jones PL. FSHD region gene 1 (FRG1) is crucuial for angiogenesis linkinh FRG! to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech. May-Jun 2009;2(5-6):267-274.

 
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