title: Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.
abstract: The aim of this study was to assess quality of life (QoL) and evaluate the occurrence and characteristics of pain in facioscapulohumeral muscular dystrophy (FSHD) patients. No study has yet assessed QoL in a large group of FSHD patients and, overall, few studies have assessed pain in neuromuscular diseases. We performed a prospective study using a multidimensional protocol including: clinical (according to the Clinical Severity Scale Rev1); genetic (p13E-11 EcoRI fragments Rev1); QoL (Short Form-36); pain (Visual Analog Scale and Portenoy-6 questions); and depression (Beck Depression Inventory) assessment. QoL measures of FSHD were compared with those of Italian norms. Moreover, we correlated QoL and pain measurements with clinical findings. Sixty-five patients were enrolled in the study. QoL was statistically significantly reduced with respect to the Italian normative sample, mainly in physical domains. Our study demonstrated that pain is frequent in FSHD patients. More than half of the patients complained of at least moderate pain. Women complained of slightly higher levels of deterioration in the emotional aspects of QoL than men. Clinical pattern (as assessed by Clinical Severity Scale) was closely related to physical QoL domains: the higher the clinical involvement, the more severe the QoL deterioration. This study provided information that may be crucial in clinical practice: pain may be a relevant aspect in FSHD patients, and prevention strategies or relevant therapies should be considered as appropriate. Moreover, we must pay more attention to gender differences: women can suffer far greater deterioration in the emotional aspects of QoL. Further multidimensional observations are needed. Muscle Nerve 40: 200-205, 2009.
authors.affiliation: Fondazione Don Carlo Gnocchi, Rome, Italy. lpadua@rm.unicatt.it
authors.forename: Luca
authors.initials: L
authors.lastname: Padua
authors.forename: Irene
authors.initials: I
authors.lastname: Aprile
authors.forename: Roberto
authors.initials: R
authors.lastname: Frusciante
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Iannaccone
authors.forename: Monica
authors.initials: M
authors.lastname: Rossi
authors.forename: Rosaria
authors.initials: R
authors.lastname: Renna
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Frasca
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003072:Cognition Disorders / Q000209:etiology; D005260:Female; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000523:psychology*; D009483:Neuropsychological Tests; D010146:Pain / Q000209:etiology*; D010147:Pain Measurement; D011788:Quality of Life; D012044:Regression Analysis; D012189:Retrospective Studies; D018709:Statistics, Nonparametric; D055815:Young Adult