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.

Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy

“…Another common feature of HRQoL-impairment in studied NMDs was the more pronounced reduction of scores in the HRQoL-domains related to physical health (physical functioning, physical role). This finding is consistent with the results of previous studies [20,21,30]. Progressive muscle degeneration in NMDs results in reduced physical activity and decreased HRQoL related to physical health.…”

“…The number of studies on other NMDs is considerably lower and only a few are available for myasthenia gravis (MG) and facioscapulohumeral muscular dystrophy (FSHD). In these diseases, a reduction of scores on the SF-36 was found in the domains ''physical functioning'', ''physical role'', ''vitality'', and ''general health'', and in the physical composite score [21,30,31,34,35,38]. The results for domains related to mental health have been inconsistent.…”

A systematic review of quality of life in adults with muscle disease

“…Both reported poorer QoL in the more functionally impaired group on at least one QoL domain, but with no significant differences in emotional functioning [16,28]. Seven studies [7,9,13,15,21,24,25] assessed associations between measures of function and QoL; all reported strong and/or significant associations between physical domains and function. Of these seven, two studies [24,25] reported significant correlations of weak to moderate strength between function and SIP psychosocial.…”

“…All 12 studies which compared people with MD to healthy controls reported poorer scores for the MD groups on one or more QoL domains [6,7,9,13,[15][16][17][18][19][20][21][22], with five of these studies reporting significantly lower QoL across all sub-scales of the QoL measure [6,7,15,21,22].…”

“…This prospect arises from the recognition that symptoms other than weakness, such as pain and fatigue which are more treatable, have a considerable impact on QoL [6][7][8]. Studies of QoL in MD have identified several interventions which may improve QoL for these patient groups, including fatigue management [6], and tailored orthoses and rehabilitative strategies for pain resulting from posture or gait [9]. Furthermore, evidence from across studies of QoL in chronic illness suggest that disease severity may not have as great an affect on QoL as would be assumed intuitively [10].…”