Patient-identified disease burden in facioscapulohumeral muscular dystrophy

Muscle and Nerve

Volumn 46, Issue 6, 2012, Pages 948-950

  Johnson, Nicholas E ^a   Quinn, Christine ^b   Eastwood, Eileen ^a   Tawil, Rabi ^a   Heatwole, Chad R ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF ROCHESTER   (United States)

Author keywords

Disease burden; Facioscapulohumeral muscular dystrophy; Neuromuscular disorders; Quality of life; Symptoms

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONSENSUS DEVELOPMENT; DISEASE SEVERITY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; HUMAN; INTERVIEW; PATIENT MOBILITY; PRIORITY JOURNAL; SYMPTOM;

EID: 84870222997     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23529     Document Type: Article

References (31)

1. Padberg G. Facioscapulohumeral disease. Thesis. Leiden: University of Leiden; 1982.
2. Tyler FH, Stephens FE. Studies in disorders of muscle. II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Intern Med 1950; 32: 640-660.
3. Flanigan KM, Coffeen CM, Sexton L, Stauffer D, Brunner S, Leppert MF. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001; 11: 525-529.
4. Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009; 75: 550-555.
5. Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, et al. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol 2008; 13: 1-6.
6. Bass SJ, Sherman J, Giovinazzo V. Bilateral Coats' response in a female patient leads to diagnosis of facioscapulohumeral muscular dystrophy. Optometry 2011; 82: 72-76.
7. Bindoff LA, Mjellem N, Sommerfelt K, Krossnes BK, Roberts F, Krohn J, et al. Severe facioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscul Disord 2006; 16: 559-563.
8. Shields CL, Zahler J, Falk N, Furuta M, Eagle RC Jr, Espinosa LE, et al. Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol 2007; 125: 840-842.
9. Statland JM, Tawil R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol 2011; 24: 423-428.
10. Laforet P, de Toma C, Eymard B, Becane HM, Jeanpierre M, Fardeau M, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998; 51: 1454-1456.
11. McColl E. Developing questionnaires. In: Fayers P, Hays R, editors. Assessing quality of life in clinical trials. Oxford: Oxford University Press; 2005. p 9-25.
12. Ritchie J, Spencer L. Qualitative data analysis for applied research. In: Analyzing qualitative data. London: Routledge; 1994. p 173-194.
13. Graham CD, Rose MR, Grunfeld EA, Kyle SD, Weinman J. A systematic review of quality of life in adults with muscle disease. J Neurol 2011; 258: 1581-1592.
14. Burns TM, Graham CD, Rose MR, Simmons Z. Quality of life and measures of quality of life in patients with neuromuscular disorders. Muscle Nerve 2012; 46: 9-25.
15. Rose MR, Sadjadi R, Weinman J, Akhatar T, Pandya S, Kissel JT, et al. The role of disease severity, illness perceptions and mood on quality of life in muscle disease. Muscle Nerve 2012; 46: 351-359.
16. Abresch RT, Carter GT, Jensen MP, Kilmer DD. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Care 2002; 19: 39-48.
17. Kalkman JS, Schillings ML, van der Werf SP, Padberg GW, Zwarts MJ, van Engelen BG, et al. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry 2005; 76: 1406-1409.
18. Kalkman JS, Schillings ML, Zwarts MJ, van Engelen BG, Bleijenberg G. The development of a model of fatigue in neuromuscular disorders: a longitudinal study. J Psychosom Res 2007; 62: 571-579.
19. Kalkman JS, Zwarts MJ, Schillings ML, van Engelen BG, Bleijenberg G. Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue. Neurol Sci 2008; 29( suppl 2): S238-240.
20. Minis MA, Kalkman JS, Akkermans RP, Engels JA, Huijbregts PA, Bleijenberg G, et al. Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status: a secondary analysis. J Rehabil Med 2010; 42: 60-65.
21. Padua L, Aprile I, Frusciante R, Iannaccone E, Rossi M, Renna R, et al. Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. Muscle Nerve 2009; 40: 200-205.
22. Winter Y, Schepelmann K, Spottke AE, Claus D, Grothe C, Schroder R, et al. Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy. J Neurol 2010; 257: 1473-1481.
23. Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil 2008; 89: 320-328.
24. Miro J, Raichle KA, Carter GT, O'Brien SA, Abresch RT, McDonald CM, et al. Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy. Am J Hosp Palliat Care 2009; 26: 308-319.
25. Vincent KA, Carr AJ, Walburn J, Scott DL, Rose MR. Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL). Neurology 2007; 68: 1051-1057.
26. Sansone VA, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, et al. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases. Eur J Neurol 2010; 17: 1178-1187.
27. Heatwole C, Bode R, Johnson N, Quinn C, Martens W, McDermott MP, et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology 2012; 79: 348-357.
28. Patrick DL, Deyo RA. Generic and disease-specific measures in assessing health status and quality of life. Med Care 1989; 27 (suppl): S217-32.
29. Wiklund I, Dimenas E, Wahl M. Factors of importance when evaluating quality of life in clinical trials. Control Clin Trials 1990; 11: 169-179.
30. Birbeck GL, Kim S, Hays RD, Vickrey BG. Quality of life measures in epilepsy: how well can they detect change over time? Neurology 2000; 54: 1822-1827.
31. Fletcher A, Gore S, Jones D, Fitzpatrick R, Spiegelhalter D, Cox D. Quality of life measures in health care. II: Design, analysis, and interpretation. BMJ 1992; 305: 1145-1148.