Facioscapulohumeral muscular dystrophy

Neurologic Clinics

Volumn 32, Issue 3, 2014, Pages 721-728

  Statland, Jeffrey ^a   Tawil, Rabi ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

D4Z4 deletion; DUX4; Facioscapulohumeral muscular dystrophy; Muscular dystrophy; SMCHD1 mutation

Indexed keywords

ANABOLIC AGENT; CORTICOSTEROID; CREATINE; MYOSTATIN; SALBUTAMOL;

ARM WEAKNESS; BULBAR PARALYSIS; CLINICAL FEATURE; DUX4 GENE; ELECTROMYOGRAPHY; EXTRAOCULAR MUSCLE; FACE MUSCLE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE; GENE MUTATION; GENE SILENCING; HUMAN; ISOMETRIC EXERCISE; KINESIOTHERAPY; MUSCLE STRENGTH; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PTOSIS; RANGE OF MOTION; REVIEW; SHOULDER; GENE DELETION; GENETICS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL;

GENE DELETION; HUMANS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL;

EID: 84904405567     PISSN: 07338619     EISSN: 15579875     Source Type: Journal    
DOI: 10.1016/j.ncl.2014.04.003     Document Type: Review

References (40)

1. Mostacciuolo M.L., Pastorello E., Vazza G., et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009, 75(6):550-555.
2. Padberg G.W., Frants R.R., Brouwer O.F., et al. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 1995, 2:S81-S84.
3. van Deutekom J.C., Wijmenga C., van Tienhoven E.A., et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993, 2(12):2037-2042.
4. Wijmenga C., Hewitt J.E., Sandkuijl L.A., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992, 2(1):26-30.
5. de Greef J.C., Lemmers R.J., Camano P., et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010, 75(17):1548-1554.
6. van der Maarel S.M., Tawil R., Tapscott S.J. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med 2011, 17(5):252-258.
7. Statland J.M., Tawil R. Risk of functional impairment in facioscapulohumeral muscular dystrophy. Muscle Nerve 2013, 49:520-527.
8. Lutz K.L., Holte L., Kliethermes S.A., et al. Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology 2013, 81(16):1374-1377.
9. Statland J.M., Sacconi S., Farmakidis C., et al. Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size. Neurology 2013, 80(13):1247-1250.
10. Jordan B., Eger K., Koesling S., et al. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. JNeurol 2011, 258(5):866-873.
11. FSH-DY Aprospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group. Neurology 1997, 48(1):38-46.
12. Laforet P., de Toma C., Eymard B., et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998, 51(5):1454-1456.
13. Fitzsimons R.B., Gurwin E.B., Bird A.C. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain 1987, 110(Pt 3):631-648.
14. Padberg G.W., Brouwer O.F., de Keizer R.J., et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995, 2:S73-S80.
15. Trevisan C.P., Pastorello E., Tomelleri G., et al. Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions. Eur J Neurol 2008, 15(12):1353-1358.
16. Funakoshi M., Goto K., Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998, 50(6):1791-1794.
17. Lunt P.W., Jardine P.E., Koch M.C., et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995, 4(5):951-958.
18. Tawil R., McDermott M.P., Mendell J.R., et al. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology 1994, 44(3 Pt 1):442-446.
19. Arahata K., Ishihara T., Fukunaga H., et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve 1995, 2:S56-S66.
20. Carpenter S., Karpati G. Pathology of skeletal muscle 2001, Oxford University Press, New York. 2nd edition.
21. Friedman S.D., Poliachik S.L., Carter G.T., et al. The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Muscle Nerve 2012, 45(4):500-506.
22. Kan H.E., Scheenen T.W., Wohlgemuth M., et al. Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2009, 19(5):357-362.
23. Masciullo M., Iannaccone E., Bianchi M.L., et al. Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study. Neuromuscul Disord 2013, 23(5):427-431.
24. Lemmers R.J., Tawil R., Petek L.M., et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012, 44(12):1370-1374.
25. Lemmers R.J., van der Vliet P.J., Klooster R., et al. Aunifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329(5999):1650-1653.
26. Bosnakovski D., Daughters R.S., Xu Z., et al. Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One 2009, 4(9):e7003.
27. Kowaljow V., Marcowycz A., Ansseau E., et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 2007, 17(8):611-623.
28. Snider L., Asawachaicharn A., Tyler A.E., et al. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 2009, 18(13):2414-2430.
29. Vanderplanck C., Ansseau E., Charron S., et al. The FSHD atrophic myotube phenotype is caused by DUX4 expression. PLoS One 2011, 6(10):e26820.
30. Wuebbles R.D., Long S.W., Hanel M.L., et al. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol 2010, 3(4):386-400.
31. Kissel J.T., McDermott M.P., Mendell J.R., et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology 2001, 57(8):1434-1440.
32. Payan C.A., Hogrel J.Y., Hammouda E.H., et al. Periodic salbutamol in facioscapulohumeral muscular dystrophy: a randomized controlled trial. Arch Phys Med Rehabil 2009, 90(7):1094-1101.
33. Rose M.R., Tawil R. Drug treatment for facioscapulohumeral muscular dystrophy. Cochrane Database Syst Rev 2004, (2). CD002276.
34. Tawil R., McDermott M.P., Pandya S., et al. Apilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology 1997, 48(1):46-49.
35. Wagner K.R., Fleckenstein J.L., Amato A.A., et al. Aphase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol 2008, 63(5):561-571.
36. Walter M.C., Lochmuller H., Reilich P., et al. Creatine monohydrate in muscular dystrophies: a double-blind, placebo-controlled clinical study. Neurology 2000, 54(9):1848-1850.
37. van der Kooi E.L., Vogels O.J., van Asseldonk R.J., et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology 2004, 63(4):702-708.
38. Olsen D.B., Orngreen M.C., Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology 2005, 64(6):1064-1066.
39. Orrell R.W., Copeland S., Rose M.R. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev 2010, (1). CD003278.
40. Van Tongel A., Atoun E., Narvani A., et al. Medium to long-term outcome of thoracoscapular arthrodesis with screw fixation for facioscapulohumeral muscular dystrophy. JBone Joint Surg Am 2013, 95(15):1404-1408.