Quality of life in adults with muscular dystrophy.

BACKGROUND: Muscle weakness is a defining characteristic of Muscular Dystrophy (MD); however, yet while speculated, objective measures of muscle weakness has not been reported in relation to quality of life in adults with MD. OBJECTIVES: 1) compare the self-reported QoL of adults with Duchenne MD (DMD), Beckers MD (BMD), Limb-Girdle MD (LGMD) and Fascioscapulohumeral MD (FSHD, and a non-MD (CTRL) group; 2) present and compare between groups measures of Impairment (Muscle Strength and Activities of Daily Living) and Perception (Fatigue, Pain and Self-Efficacy); and 3) identify associations between QoL domains and measures of Impairment and Perception (See above). METHODS: Seventy-Five males, including MD classifications DMD, BMD, LGMD, FSHD and CTRL, completed measures for QoL, Knee-Extension Maximal Voluntary Contraction (KEMVC), Fatigue, Pain, Self-Efficacy and Activities of Daily Living (ADL). RESULTS: QoL was lower across many domains in MD than CTRL. FSHD scored lower than DMD for mental wellbeing domains. KEMVC associated with Physical-Function domain for BMD. Pain, Self-Efficacy and ADLs associated with QoL domains, with Fatigue the most consistently associated. CONCLUSION: The present study identified differences between MD classifications within self-perceptions of mental-health. Muscle weakness is a defining feature of MD; however, it doesn't define QoL in adults with MD. A greater understanding of mental wellbeing, independence, and management of fatigue and pain, are required to improve QoL for adults with MD.

The cardiorespiratory response and physiological determinants of the assisted 6-minute handbike cycle test in adult males with muscular dystrophy.

INTRODUCTION: The assisted 6-minute cycle test (A6MCT) distance was assessed in adults with muscular dystrophy (MD). METHODS: Forty-eight males, including those with Duchenne MD (DMD), limb-girdle MD (LGMD), fascioscapulohumeral MD (FSHD), and Becker MD (BMD), as well as a group without MD (CTRL), completed handgrip strength (HGS), lung function [forced expiratory volume in 1 second (FEV1 ) and forced vital capacity (FVC)], body fat, and biceps thickness assessments. During the A6MCT, ventilation (VE), oxygen uptake (VO2 ), carbon dioxide (VCO2 ), and heart rate (HR) were recorded. RESULTS: A6MCT and HGS were lower in MD than CTRL subjects. FEV1 , FVC, and biceps thickness were lower in MD than CTRL; lower in DMD than BMD, LGMD, and FSHD; but were not different between BMD, LGMD, and FSHD. A6MCT correlated with HGS, FEV1 , FVC, body fat, VO2 , VCO2 , HR, and VE (r = 0.455-0.708) in pooled BMD, LGMD, and FSHD participants. DISCUSSION: A shorter A6MCT distance in adult males with MD was attributable to HGS and lung function. The A6MCT is appropriate for assessment of physical function in adults with MD. Muscle Nerve 58: 427-433, 2018.

Systematic review: Sarcopenia in paediatric inflammatory bowel disease.

BACKGROUND: Low skeletal muscle mass (MM) and deteriorated function (sarcopenia) can be a frequent complication in paediatric inflammatory bowel disease (IBD). AIM: To conduct a systematic review of the paediatric IBD literature on skeletal muscle function and mass and identify interventions that could affect them. METHODS: Systematic searches (EMBASE, Medline, Cochrane library central for registered control trials and Web of Science) were conducted using the terms 'lean body mass' (LM), 'fat free mass' (FFM) or 'MM' and 'IBD'. RESULTS: Fourteenth studies were included, presenting data from 439 Crohn's disease (CD), 139 ulcerative colitis (UC) and 2 IBD-unclassified participants compared with healthy matched or unmatched groups or reference populations. Six out of 14 studies reported lower LM, whilst 7 studies observed lower MM and FFM in CD patients compared to healthy controls. Research in UC patients reported lower LM in 3 studies, lower MM in 3 studies and lower FFM in 4 studies. Three prospective studies measured the impact of enteral feeding and showed improvement on disease activity and LM or FFM, while one retrospective study did not show any impact on LM. CONCLUSION: Despite the variety of experimental approaches and methods used to assess sarcopenia, most studies showed reduction in MM, LM and FFM in IBD. Nutritional intervention may have a positive effect on LM and FFM. Future research should focus on standardizing the terminology and methodologies used in assessing body composition and investigating sarcopenia in diseased and matched healthy control cohorts in adequately powered studies with a longitudinal design.

Objective and subjective measures of sleep in men with Muscular Dystrophy.

PURPOSE: Despite poor sleep quality being recognised in Duchenne Muscular Dystrophy, reports from milder forms of Muscular Dystrophy (MD), and accompanied associations with quality of life (QoL), pain and fatigue, remain limited however. METHODS: Adult males (n = 15 Beckers MD (BMD), n = 12 Limb-Girdle MD (LGMD), n = 12 Fascioscapulohumeral (FSHD), n = 14 non-MD (CTRL)) completed assessments of body composition (Bio-electrical impedance), sleep (7-day 24-hour tri-axial accelerometer, Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index, QoL (SF36-v2), pain (Visual analogue scale), fatigue (Modified Fatigue Index Scale) and functional assessments (Brookes and Vignos). RESULTS: FSHD and BMD reported worse sleep than CTRL on the PSQI. FSHD scored worse than CTRL on the Insomnia Severity Index (P<0.05). 25-63% and 50-81% of adults with MD reported poor sleep quality using the Insomnia Severity Index and PSQI, respectively. Accelerometery identified no difference in sleep quality between groups. Associations were identified between sleep measures (PSQI global and insomnia severity) with mental or physical QoL in LGMD, BMD and FSHD. Multiple regression identified associations between sleep impairment and fatigue severity (all MDs), body composition (BMD & LGMD), upper and lower limb function (LGMD, FSHD) and age (FSHD). CONCLUSIONS: 25-81% of men with MD, depending on classification, experience sleep impairment, using self-report sleep measures. Whilst BMD and FSHD showed worse sleep outcomes than CTRL, no group difference was observed between LGMD and CTRL, however all groups showed associations with sleep impairment and higher levels of fatigue. These findings, and associations with measures of health and wellbeing, highlight an area for further research which could impact QoL in adults with MD.

12-Month changes of muscle strength, body composition and physical activity in adults with dystrophinopathies.

PURPOSE: Muscular dystrophy (MD) is an umbrella term for muscle wasting conditions, for which longitudinal changes in function and body composition are well established in children with Duchenne (DMD), however, changes in adults with DMD and Beckers (BMD), respectively, remain poorly reported. This study aims to assess 12-month changes in lower-limb strength, muscle size, body composition and physical activity in adults with Muscular Dystrophy (MD). METHODS: Adult males with Duchenne MD (DMD; N = 15) and Beckers MD (BMD; N = 12) were assessed at baseline and 12-months for body composition (Body fat and lean body mass (LBM)), Isometric maximal voluntary contraction (Knee-Extension (KEMVC) and Plantar-Flexion (PFMVC)) and physical activity (tri-axial accelerometry). RESULTS: 12-Month change in strength was found as -19% (PFMVC) and -14% (KEMVC) in DMD. 12-Month change in strength in BMD, although non-significant, was explained by physical activity (R2=0.532-0.585). Changes in LBM (DMD) and body fat (BMD) were both masked by non-significant changes in body mass. DISCUSSION: 12-Month changes in adults with DMD appear consistent with paediatric populations. Physical activity appears important for muscle function maintenance. Specific monitoring of body composition, and potential co-morbidities, within adults with MD is highlighted.Implications for rehabilitationQuantitative muscle strength assessment shows progressive muscle weakness in adults with Duchenne Muscular Dystrophy is comparable to paediatric reports (-14 to -19%).Physical activity should be encouraged in adults with Beckers Muscular Dystrophy, anything appears better than nothing.Body composition, rather than body mass, should be monitored closely to identify any increase in body fat.

Quantitative assessment of sitting time in ambulant adults with Muscular Dystrophy.

BACKGROUND: Current investigations into physical behaviour in Muscular Dystrophy (MD) have focussed largely on physical activity (PA). Negative health behaviours such as sedentary behaviour (Physical Behaviour) and sitting time (Posture Classification) are widely recognised to negatively influence health, but by contrast are poorly reported, yet could be easier behaviours to modify. METHODS: 14 ambulant men with MD and 12 healthy controls (CTRL) subjects completed 7-days of free-living with wrist-worn accelerometry, assessing physical behaviour (SB or PA) and Posture Classification (Sitting or Standing), presented at absolute (minutes) or relative (% Waking Hours). Participant body composition (Fat Mass and Fat Free Mass) were assessed by Bioelectrical Impedance, while functional status was assessed by 10 m walk test and a functional scale (Swinyard Scale). RESULTS: Absolute Sedentary Behaviour (2.2 Hours, p = 0.025) and Sitting Time (1.9 Hours, p = 0.030 was greater in adults with MD compared to CTRL and Absolute Physical Activity (3.4 Hours, p < 0.001) and Standing Time (3.2 Hours, p < 0.001) was lower in adults with MD compared to CTRL. Absolute hours of SB was associated with Fat Mass (Kg) (R = 0.643, p < 0.05) in ambulatory adults with MD. DISCUSSION: This study has demonstrated increased Sedentary Behaviour (2.2 hours) and Sitting time (1.9 Hours) in adults with MD compared to healthy controls. Extended waking hours in sitting and SB raises concerns with regards to progression of potential cardio-metabolic diseases and co-morbidities in MD.

Urinary incontinence in men with Duchenne and Becker muscular dystrophy.

The prevalence of urinary incontinence in Duchenne and Becker muscular dystrophy (D/BMD) is reported to be between 15-29%, this however includes ages across the lifespan, and with no description of impact on daily life. The present study, aimed to determine the prevalence of urinary incontinence in men with D/BMD, and to identify which aspects of daily life were impacted by urinary incontinence. Twenty-seven adult males, 11 with BMD and 16 with DMD, aged 20-57 years, volunteered to participate in this study. Six questionnaires were completed to provide an overview of participant mobility, urinary incontinence and distress caused by urinary incontinence. These included: The Barthel index of disability, International Consultation on Incontinence Questionnaire-Urinary Incontinence Form, Incontinence Impact Questionnaire Short Form, The Urogenital Distress Inventory, and the Brooke and Vignos scale. The prevalence of urinary incontinence within the present men with D/BMD was 37%, assessed as urine leakage of once a week or more. Those with urinary incontinence all reported only a "small amount" of urine leakage, with urinary incontinence frequency of once a week in 5/10 participants, two or three times a week in 2/10 participants, and once a day in 3/10 participants. Of those with urinary incontinence 8/10 experienced some impact on their daily life from urine leakage including travel (4/10), social aspects (5/10), and emotional aspects (8/10). All participants with urinary incontinence were bothered by some aspect, including urine leakage (9/10), and frequent urination (4/10). In conclusion, 37% of the present men with D/BMD experience urinary incontinence on a weekly or daily basis and negatively impacted aspects of life related to travel, social and emotional wellbeing. Urine leakage, and frequent urination should be considered a meaningful problem by care providers, and discussed openly with those with D/BMD.

Frequency of reported pain in adult males with muscular dystrophy.

INTRODUCTION: The purpose of this study was to present and compare pain between adult males with Duchenne (DMD), Becker's (BMD), Limb-Girdle (LGMD) Facioscapulohumeral (FSHD) forms of Muscular Dystrophy (MD), and healthy controls (CTRL), using three different methods of assessment. METHODS: Pain was assessed using 1) a whole body visual analogue scale (VAS) of pain, 2) a generalised body map and 3) a localised body map. RESULTS: All types of MD reported more VAS pain than CTRL, with 97% of all MD participants reporting pain; however, no differences were reported between types of MD. The generalised body map approach identified more frequent pain in the shoulders of FSHD (93%) than other groups (13-43%), hips of DMD (87%) and LGMD (75%) than other groups (0-29%), and legs of all MD (64-78%) than CTRL (25%). The localised body map approach identified common areas of frequent pain across types of MD, posterior distal leg and distal back, as well as condition specific regions of frequent pain, for example posterior trapezius in FSHD, and anterior hip pain in DMD and LGMD. CONCLUSIONS: Using a single pain value (VAS), increased pain was reported by adults with MD compared to CTRL, with no clear differences between different MD groups, suggesting pain is symptomatic of MD. The use of the generalised body map approach, and to an even greater extent the localised body map approach, identified specific areas of frequent pain relevant to each individual condition. These results indicate that whist the commonly used generalised approach can be used to identify broad anatomical regions, the localised approach provides a more comprehensive understanding of pain, reflective of clinical assessment, and should be utilised in future research.

Relationships between muscle size, strength, and physical activity in adults with muscular dystrophy.

BACKGROUND: Muscular dystrophy (MD) is characterized by progressive muscle wasting and weakness, yet few comparisons to non-MD controls (CTRL) of muscle strength and size in this adult population exist. Physical activity (PA) is promoted to maintain health and muscle strength within MD; however, PA reporting in adults with MD is limited to recall data, and its impact on muscle strength is seldom explored. METHODS: This study included 76 participants: 16 non-MD (CTRL, mean age 35.4), 15 Duchenne MD (DMD, mean age 24.2), 18 Becker's MD (BMD, mean age 42.4), 13 limb-girdle MD (LGMD, mean age 43.1), and 14 facioscapulohumeral MD (mean age 47.7). Body fat (%) and lean body mass (LBM) were measured using bioelectrical-impedance. Gastrocnemius medialis (GM) anatomical cross-sectional area (ACSA) was determined using B-mode ultrasound. Isometric maximal voluntary contraction (MVC) was assessed during plantar flexion (PFMVC) and knee extension (KEMVC). PA was measured for seven continuous days using triaxial accelerometry and was expressed as daily average minutes being physically active (TPAmins ) or average daily percentage of waking hours being sedentary (sedentary behaviour). Additionally, 10 m walk time was assessed. RESULTS: Muscular dystrophy groups had 34-46% higher body fat (%) than CTRL. DMD showed differences in LBM with 21-28% less LBM than all other groups. PFMVC and KEMVC were 36-75% and 24-92% lower, respectively, in MD groups than CTRL. GM ACSA was 47% and 39% larger in BMD and LGMD, respectively, compared with CTRL. PFMVC was associated with GM ACSA in DMD (P = 0.026, R = 0.429) and CTRL (P = 0.015, R = 0.553). MD groups were 14-38% more sedentary than CTRL groups, while DMD were more sedentary than BMD (14%), LGMD (8%), and facioscapulohumeral MD (14%). Sedentary behaviour was associated with LBM in DMD participants (P = 0.021, R = -0.446). TPAmins was associated with KEMVC (P = 0.020, R = 0.540) in BMD participants, while TPAmins was also the best predictor of 10 m walk time (P < 0.001, R2  = 0.540) in ambulant MD, revealed by multiple linear regression. CONCLUSIONS: Quantified muscle weakness and impaired 10 m walking time is reported in adults with MD. Muscle weakness and 10 m walk time were associated with lower levels of TPA in adults with MD. Higher levels of sedentary behaviour were associated with reduced LBM in DMD. These findings suggest a need for investigations into patterns of PA behaviour, and relevant interventions to reduce sedentary behaviour and encourage PA in adults with MD regardless of impairment severity.

Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy.

The aim of this study was to determine the response to an oral glucose tolerance test (OGTT) in adult males with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), and to investigate whether body composition contributes to any variance in the glucose response. Twenty-eight adult males with dystrophinopathy (BMD, n = 13; DMD, n = 15) and 12 non-dystrophic controls, ingested 75 g oral anhydrous glucose solution. Fingertip capillary samples were assessed for glucose at 30-min intervals over 2-h post glucose ingestion. Fat free mass relative to body mass (FFM/BM) and body fat (BF%) was assessed using bioelectrical impedance. Vastus lateralis muscle anatomical cross sectional area (VL ACSA) was measured using B-mode ultrasonography. Blood glucose was higher in MD groups than control at 60, 90 and 120 min post ingestion of glucose. Compared to controls, FFM/BM and VL ACSA were lower in MD groups compared to controls (p < 0.001). Glucose tolerance values at 120 min were correlated with FFM/BM and BF% in the BMD group only. Our results suggest that glucose tolerance is impaired following OGTT in adult males with BMD and DMD. It is recommended that adults with BMD and DMD undertake routine glucose tolerance assessments to allow early detection of impaired glucose tolerance.

Resting Energy Expenditure in Adults with Becker's Muscular Dystrophy.

PURPOSE: The purpose of this study was: 1) To compare Resting energy expenditure (REE) in adult males with Becker's Muscular Dystrophy (BeMD, n = 21, 39 ±12 years) and healthy controls (CTRL, n = 12, 37 ±12 years) 2) Determine whether other physiological parameters correlate with REE in BeMD, and 3) Compare current prediction methods of REE with measured REE. METHODS: REE was calculated via indirect calorimetry using continuous, expired gas analysis following an overnight fast. Fat free mass (FFM) and fat mass were measured by bioelectrical impedance. B-mode ultrasound measured Tibialis Anterior (TA) and Gastrocnemius Medialis (GM) anatomical cross sectional area (ACSA). The Bone Specific Physical Activity Questionnaire measured physical activity. RESULTS: No difference in REE was found between CTRL and BeMD groups (1913 ±203 & 1786 ±324 Kcal respectively). Other physiological comparisons showed increased fat mass (+54%), decreased TA ACSA (-42%), increased GM ACSA (+25%) as well as reduced respiratory function (FVC -28%; FEV1-27%) in BeMD adults compared to controls. REE estimated from prediction equations (Schofield's) in Muscular Dystrophy were different from measured REE (P<0.05, bias = -728kcal), while the Mifflin equation was no different from measured REE (r2 = 0.58, Bias = -8kcal). Within the present BeMD, REE predicted from FFM (REE = FFM x 34.57-270; r2 = 0.85) and body mass (REE = BM x 15.65 + 421.5; r2 = 0.66), were not different from measured REE (bias equals 0 and 0.2kcals, respectively). CONCLUSIONS: Despite no differences in REE between CTRL and BeMD adults, increased fat masses highlights the requirement for explicit nutritional guidelines, as well as maintenance of physical activity levels, where possible. Prediction equations are frequently used in clinical settings, however these have been shown to be less accurate in BeMD; therefore, the equations proposed here should be used where possible.