Abstract
Facioscapulohumeral (FSH) muscular dystrophy is the third most common dystrophy, after myotonic dystrophy and the dystrophinopathies (Duchenne and Becker), with a prevalence of approximately 1 in 20,000. It is inherited in an autosomal-dominant fashion and has been linked to microsatellite markers on chromosome 4q35. A deletion of a variable number of repetitive elements (known as D4Z4 repeats) leads to the generation of a small EcoRI restriction fragment that is recognized by the p13E-11 probe. The precise mechanism whereby this genetic abnormality results in disease is unclear, but it is thought that the deletion alters chromosomal structure and influences the expression of more centromerically located genes. Because of its slow progression and relatively benign course, FSH is the second most common dystrophy (after myotonic dystrophy) in adults.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Padberg G. Facioscapulohumeral disease (Thesis). Inercontinental Graphics, Leiden: 1982.
Tyler FH, Stephens F. Studies in disorders of muscle II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Int Med 1950;32:640–660.
Lunt P, Harper P. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 1991;28:655–664.
Felice KJ, North WA, Moore SA, Mathews KD. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 2000;54:1927–1931.
Felice KJ, Moore SA. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 2001;24:352–356.
Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol 2003;60:1421–1425.
Brouwer O, Padberg G, Ruys C, Brand R, de Laat J, Grote JJ. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991;41:1878–1881.
Wulff JD, Lin JT, Kepes JJ. Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome. Ann Neurol 1982;12:398–401.
Laforet P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998;51:1454–1456.
Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;2:S67–S72.
Hughes B. Creatine phosphokinase in facioscapulohumeral muscular dystrophy. Br Med J 1971;3:464–465.
Munsat TL, Piper D, Cancilla P, Mednick J. Inflammatory myopathy with facioscapulohumeral distribution. Neurology 1972;22:335–347.
Molnar M, Dioszeghy P, Mechler F. Inflammatory changes in facioscapulohumeral muscular dystrophy. Eur Arch Psychiatry Clin Neurosci 1991;241:105–108.
Bacq M, Telerman-Toppet N, Coers C. Familial myopathies with restricted distribution, facial weakness and inflammatory changes in affected muscles. J Neurol 1985;231:295–300.
Orrell R, Tawil R, Forrester J, Kissel J, Mendell J, Figlewicz D. Definitive molecular diagnosis of facioscapulohumeral dystrWWWaophy. Neurology 1999;52:1822–1826.
Upadhyaya M, Maynard J, Rogers M, et al. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476–479.
Rothstein TL, Carlson CB, Sumi SM. Polymyositis with facioscapulohumeral distribution. Arch Neurol 1971;25:313–319.
Bates D, Stevens J, Hudgson P. “Polymyositis” with involvement of facial and distal musculature. One form of the facioscapulohumeral syndrome. J Neurol Sci 1973;19:105–108.
Furukawa T. Neurogenic FSH muscular atrophy. Muscle Nerve 1995;2:S96–S97.
Furukawa T, Toyokura Y. Chronic spinal muscular atrophy of facioscapulohumeral type. J Med Genet 1976;13:285–289.
Siddique T, Roper H, Pericak-Vance M, et al. Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. J Med Genet 1989;26:487–489.
Hudgson P, Bradley W, Jenkison M. Familial “mitochondrial” myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibers. 1. Clinical, electrophysiological and pathological findings. J Neurol Sci 1972;16:343–370.
Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Med Genet 1995;56:99–105.
Kissel J, McDermott M, Mendell J, et al. Randomized, double-blind, placebo-controlled trial of albuteral in facioscapulohumeral dystrophy. Neurology 2001;57:1434–1440.
Mummery C, Copeland S, Rose M. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev 2003;3:CD003278.
Lunt PW, Jardine PE, Koch MC, 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;4:951–958.
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 1996;39:744–748.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Humana Press Inc., Totowa, NJ
About this chapter
Cite this chapter
Benatar, M. (2006). Facioscapulohumeral Muscular Dystrophy. In: Benatar, M. (eds) Neuromuscular Disease. Humana Press. https://doi.org/10.1007/978-1-59745-106-2_25
Download citation
DOI: https://doi.org/10.1007/978-1-59745-106-2_25
Publisher Name: Humana Press
Print ISBN: 978-1-58829-627-6
Online ISBN: 978-1-59745-106-2
eBook Packages: MedicineMedicine (R0)