Facioscapulohumeral Dystrophy Follow-up
- Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD more...
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- Coats syndrome: This syndrome, a retinal vasculopathy with telangiectasia, exudation, and retinal detachment, is seen in 49-75% of affected individuals. If detected early, retinal photocoagulation may prevent serious consequences.
- Hearing loss: Sensorineural deafness is observed in 64% of patients; it may be unilateral.
- Mental impairment and epilepsy: These are seen in the early onset group. Mental retardation is observed in about 40% of patients with early onset 4q35-FSHD. Epilepsy also is observed often in this subset of patients.
- Labile hypertension
- Cardiac complications: Atrial arrest, bundle branch block, and dilated cardiomyopathy have been reported.
See the list below:
- Size of deletion affects disease severity and thus prognosis. Ricci studied 122 Italian families affected by FSHD and 230 healthy control subjects. An Eco RI fragment shorter than 30 kb that was resistant to Bln I restriction was found in 114 of 122 families (93%) with FSHD. Fifteen percent of the control group showed Eco RI fragments smaller than 30 kb that were Bln I sensitive, suggesting that these were 10 qter alleles. Prognosis varied with the length of the fragment size and the remaining Kpn I units. The probabilities of developing the severe form of the disease were as follows:
- 100% with very short segment length of 10-13 kb (1-2 Knp I repeats left)
- 54% in patients with fragment length of 16-20 kb (3-4 Knp I repeats left)
- 19% in patients with fragment length greater than 21 kb (more than 4 Knp I repeats left)
- Age of onset is variable. The disease tends to progress from the face downwards. Asymmetry and selective muscle group involvement distinguish FSHD from other muscular dystrophies. Many authors describe stepwise deterioration with prolonged periods of apparent arrest. Extraocular muscles, bulbar muscles, deltoids, and respiratory muscles usually are spared. Ventilatory impairment is seen in fewer than 10% of patients.
- Approximately 20% of patients may require wheelchair assistance.
- Life expectancy is normal in most patients.
Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, et al. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Hum Mol Genet. 2014 Sep 25. [Medline].
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.
Statland JM, Tawil R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol. 2011 Oct. 24(5):423-8. [Medline].
Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014 Sep 16. 83(12):1056-9. [Medline]. [Full Text].
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. 2009 Oct 15. 285(1-2):54-8. [Medline].
Rijken NH, van der Kooi EL, Hendriks JC, van Asseldonk RJ, Padberg GW, Geurts AC, et al. Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement. Neuromuscul Disord. 2014 Jun 26. [Medline].
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. 2009 Jul. 90(7):1094-101. [Medline].
Olsen DB, Orngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. 2005 Mar 22. 64(6):1064-6. [Medline].
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. 1993 Mar. 75(3):372-6. [Medline].
Demirhan M, Uysal O, Atalar AC, et al. Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable. Clin Orthop Relat Res. in press. 2009:
Pons van Dijk G, van der Kooi E, Behin A, Smeets J, Timmermans J, van der Maarel S, et al. High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms. Funct Neurol. 2014 Jan 11. 1-7. [Medline].
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. 1999 Jun. 45(6):751-7. [Medline].
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. 1996 Dec. 144(1-2):59-63. [Medline].
Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology. 1998 Jun. 50(6):1791-4. [Medline].
Gilchrist JM. Other muscular dystrophies. In: Gilchrist JM, ed. Prognosis in Neurology. Butterworth-Heinemann. 1998:347-9.
Griggs RC, Mendell JR, Miller RG. The muscular dystrophies. In: Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co. 1995:122-8.
Kissel JT, McDermott MP, Mendell JR, et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001 Oct 23. 57(8):1434-40. [Medline].
Kissel JT, McDermott MP, Natarajan R, et al. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. 1998 May. 50(5):1402-6. [Medline].
Krasnianski M, Eger K, Neudecker S, et al. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol. 2003 Oct. 60(10):1421-5. [Medline].
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. 2005 Mar. 83(3):216-24. [Medline].
Neudecker S, Krasnianski M, Bahn E, Zierz S. Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature. Acta Neuropathol (Berl). 2004 Sep. 108(3):257-9. [Medline].
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. 2009 Jul 1. 18(13):2414-30. [Medline]. [Full Text].
Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol. 1998 Mar. 43(3):279-82. [Medline].
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 Jun. 39(6):744-8. [Medline].
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006 Jul. 34(1):1-15. [Medline].
Walter MC, Lochmuller H, Reilich P, et al. Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study. Neurology. 2000 May 9. 54(9):1848-50. [Medline].
Winokur ST, Barrett K, Martin JH, et al. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. 2003 May. 13(4):322-33. [Medline].
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.