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BilagOversigt over undersøgelser,hvor man har undersøgt energiomsætningen i hvile hos patienter medmuskelsvind1.J Hum Nutr Diet. 2009 Oct;22(5):383-93.A review of nutrition in Duchenne muscular dystrophy.Davidson ZE, Truby H.The University of Queensland, Children's Nutrition Research Centre, School ofMedicine, Australia. [email protected]Duchenne muscular dystrophy (DMD) is a recessive X linked genetic disordercharacterised by progressive muscle weakness and reduced muscle tone. Affectingonly boys, it limits life expectancy to approximately 20 years. A literaturereview was conducted using MEDLINE and the Cochrane Library, employing the term'Duchenne muscular dystrophy'. A total of 1491 articles in English wererecovered. These papers were searched thematically under the headings: bodycomposition (n = 10), energy expenditure (n = 10), nutrition (n = 6),corticosteroid therapy (n = 55) and gene therapy (n = 199). Key dietetic practicepoints were identified relevant to nutritional management. Papers supportingthese key themes were assigned a level of evidence and grade of recommendation.There is limited high-quality evidence to guide the nutritional management ofboys with DMD. Currently, the majority of evidence is based on expert opinion andclinical expertise. Delayed growth, short stature, muscle wasting and increasedfat mass are characteristics of DMD and impact on nutritional status and energyrequirements. The early introduction of steroids has altered the natural historyof the disease, but can exacerbate weight gain in a population alreadysusceptible to obesity. Prior to commencing steroids, anticipatory guidance forweight management should be provided. Malnutrition is a feature of end stagedisease requiring a multidisciplinary approach, such as texture modification andsupplemental feeding. Micronutrient requirements are yet to be determined but, asa result of corticosteroid treatment, vitamin D and calcium should besupplemented. Some evidence exists supporting supplementation with creatinemonohydrate to improve muscle strength. More research is needed to provide ahigher quality of evidence for dietitians working within this area.PMID: 19743977 [PubMed - indexed for MEDLINE]2.Can J Diet Pract Res. 2008 Winter;69(4):208-12.Body composition and resting energy expenditure of individuals with Duchenne andBecker muscular dystrophy.Hogan SE.Grant MacEwan College, Edmonton, Alberta, Canada.
PURPOSE: The relationship between body composition and resting energy expenditure(REE) was investigated in two boys and two men with Duchenne muscular dystrophy(DMD) (ages 11 to 22.4 years) and two boys with Becker muscular dystrophy (BMD)(ages 7.75 and 13.75 years). METHODS: The REE was assessed by indirectcalorimetry; body composition indices (weight, height, skinfolds, and mid-armcircumference) were measured using standardized techniques and compared withhealthy reference data. RESULTS: Those with DMD had reduced correctedmid-upper-arm muscle area (C-MUMA) in comparison with healthy peers, andapproximately twice the subcutaneous fat levels of subjects with BMD and healthypeers. Boys with BMD had remarkably lower muscle status than did boys with DMDand healthy peers. In both groups, REE was lower than in healthy peers; REE wasassociated with body weight (r=0.85), height (r=0.92), mid-upper arm fat area(MUFA) (r=0.97), and C-MUMA (r=0.65). CONCLUSIONS: Individuals with musculardystrophy (MD) exhibit considerable disease-specific alterations in bodycomposition. The REE had a stronger relationship with growth (weight and height)and subcutaneous body fat composition and a weaker association with C-MUMA.Understanding the effect of MD on body composition and REE will allow dietitiansto individualize energy recommendations.PMID: 19063812 [PubMed - indexed for MEDLINE]3.Am J Phys Med Rehabil. 2008 Dec;87(12):1053.A re-examination and confirmation of daily energy needs for people with severemuscular dystrophy.Munn MW.Comment on:Am J Phys Med Rehabil. 2005 Aug;84(8):639-43.PMID: 19033764 [PubMed - indexed for MEDLINE]4.Eur Respir J. 2005 Apr;25(4):682-7.Resting energy expenditure in Duchenne patients using home mechanicalventilation.Gonzalez-Bermejo J, Lofaso F, Falaize L, Lejaille M, Raphaël JC, Similowski T,Melchior JC.Service de Pneumologie et de Réanimation, Groupe Hospitalier Pitié-Salpêtrière,Assistance Publique-Hôpitaux de Paris, 47-83, Bd de l'Hôpital, 75651 Paris Cedex13, France. [email protected]Nutritional status is both important and difficult to assess in patients withDuchenne muscular dystrophy (DMD), particularly in those requiring mechanicalventilation (MV). The current authors evaluated body composition
(bio-impedancemetry), resting energy expenditure (REE; indirect calorimetry) andenergy intake in 20 adult patients with DMD using home MV (nocturnal: n = 13;continuous: n = 7) and 12 age-matched healthy controls. The patients were smallerin height than the controls and had a lower body weight. Most of the reduction inbody mass index was accounted for by a reduction in fat free mass (FFM). REE (kJ)was significantly reduced in the patients (4559+/-853 kJ x 24 h(-1) versus7407+/-1312 kJ x 24 h(-1)), but the difference disappeared after correction forFFM. REE and FFM were correlated in both the controls and patients, but lessstrongly in the latter, the lower strength of the association being due to thepatients using continuous MV (REE and FFM uncorrelated). The food intake of thepatients was 1.2+/-0.4 greater than their REE. This study shows that patientswith advanced forms of Duchenne muscular dystrophy have balanced energy intakesand resting energy expenditure.PMID: 15802343 [PubMed - indexed for MEDLINE]5.Muscle Nerve. 2005 Jun;31(6):713-8.Nutritional inadequacy in adults with muscular dystrophy.Motlagh B, MacDonald JR, Tarnopolsky MA.Department of Medicine, Room 4U4, McMaster University, 1200 Main Street W.,Hamilton, Ontario, L8N 3Z5, Canada.Patients with muscular dystrophy may be prone to nutrient deficiency due tomobility limitations or oropharyngeal weakness. Patients with myotonic musculardystrophy (DM1) may be particularly prone to nutritional deficiencies fromassociated dysmotility of the entire gastrointestinal tract. We prospectivelyevaluated nutritional intake, body composition, and muscle strength in adultpatients with DM1 (n = 29) and other muscular dystrophies (n = 22) on twooccasions separated by approximately 6 months. Handgrip was significantly lowerand knee extension higher for DM1 compared to other dystrophies, with nobetween-group differences in nutritional intakes. Many patients in both groupsdemonstrated inadequate nutrient intake of protein, energy, vitamins (water andfat soluble), and minerals (calcium and magnesium). Significant correlations werefound between measures of strength and certain individual nutrients (e.g., copperand water-soluble vitamins). These data indicate that a substantial number ofadults with muscular dystrophy do not meet current dietary intakerecommendations. The potential clinical implications of these findings arediscussed.PMID: 15786416 [PubMed - indexed for MEDLINE]6.Am J Clin Nutr. 2004 Aug;80(2):357-64.Postabsorptive and insulin-stimulated energy and protein metabolism in patientswith myotonic dystrophy type 1.
Perseghin G, Comola M, Scifo P, Benedini S, De Cobelli F, Lanzi R, Costantino F,Lattuada G, Battezzati A, Del Maschio A, Luzi L.Internal Medicine Section of Nutrition/Metabolism, Università Vita e Salute SanRaffaele, Istituto Scientifico H San Raffaele, via Olgettina 60, 20132 Milan,Italy. [email protected]BACKGROUND: Exaggerated insulin resistance was described as the major metabolicabnormality in myotonic dystrophy type 1 (DM1). We reported recently that theseverity of the impairment in insulin-stimulated glucose metabolism in thesepatients was overestimated. OBJECTIVE: The aim was to dissect out insulin actionwith respect to whole-body energy homeostasis and glucose, protein, and lipidmetabolism in patients with DM1 to assess the relevance of insulin resistance tothe heterogeneous clinical manifestations of this syndrome. DESIGN: Tennondiabetic patients with DM1 and 10 matched healthy control subjects werestudied by means of 1) dual-energy X-ray absorptiometry; 2) aeuglycemic-hyperinsulinemic clamp (40 mU. m(-2). min(-1)) combined with a primed,continuous infusion of [6,6-d(2)]glucose and [1-(13)C]leucine; 3) indirectcalorimetry; and 4) localized (1)H magnetic resonance spectroscopy of the calfmuscles. RESULTS: Patients with DM1 had less lean body mass, greater fat mass,and greater intramyocellular lipid contents than did healthy control subjects.Energy expenditure and glucose and lipid metabolism did not differ significantlybetween the groups. In contrast, markers of proteolysis were higher in DM1patients in the postabsorptive and insulin-stimulated conditions and wereassociated with lower plasma concentrations of insulin-like growth factor 1 (P <0.03) and higher plasma concentrations of tumor necrosis factor alpha receptor 2(P = 0.04). CONCLUSIONS: Despite greater body fat and intramyocellular lipidcontents in patients with DM1, insulin sensitivity was not significantlydifferent between patients and control subjects. In contrast, the loss of leanbody mass in patients with DM1 was associated with abnormal postabsorptive andinsulin-stimulated regulation of protein breakdown. Lower plasma insulin-likegrowth factor 1 concentrations and higher tumor necrosis factor system activitymight be involved in the muscle wasting of DM1.PMID: 15277156 [PubMed - indexed for MEDLINE]7.Neuromuscul Disord. 2004 Feb;14(2):142-6.Increased resting energy expenditure in subjects with Emery-Dreifuss musculardystrophy.Vaisman N, Katzenellenbogen S, Nevo Y.Unit of Clinical Nutrition, Tel-Aviv Sourasky Medical Centre, 6 Weizmann Street,Tel-Aviv 64239, Israel. [email protected]Comment in:Neuromuscul Disord. 2005 Jul;15(7):515-6; author reply 516.We have studied changes in energy expenditure and body composition in adult males
with Emery-Dreifuss muscular dystrophy, age-matched males with hyperCKemia andage-matched healthy controls. All participants were studied twice, 2-3 yearsapart. Resting energy expenditure was studied by indirect calorimetry, lean bodymass and body fat by dual X-ray absorptiometry, and muscle mass was estimatedbased on 24-h urinary creatinine excretion. At baseline and 2-3 years later, bodyfat was significantly higher (P < 0.011 and P < 0.003, respectively) and leanbody mass significantly lower (P < 0.024 and P < 0.012, respectively) in patientswith Emery-Dreifuss muscular dystrophy as compared to subjects with hyperCKemiaand healthy controls. Resting energy expenditure, over the study period,increased significantly in patients with Emery-Dreifuss muscular dystrophy (P <0.031), but not in patients with hyperCKemia nor in healthy controls. Our studysuggests that patients with Emery-Dreifuss muscular dystrophy may have increasedenergy expenditure relative to healthy subjects. If not met by increased caloricintake, this greater energy expenditure may partially contribute to a furtherdeterioration in their muscle performance.PMID: 14733961 [PubMed - indexed for MEDLINE]8.Eur J Clin Nutr. 2003 Feb;57(2):273-8.Body composition and energy expenditure in Duchenne muscular dystrophy.Zanardi MC, Tagliabue A, Orcesi S, Berardinelli A, Uggetti C, Pichiecchio A.Applied Health Sciences Department, University of Pavia, Pavia, Italy.OBJECTIVE: To investigate the relationship between resting energy expenditure(REE) and body composition in Duchenne Muscular Dystrophy (DMD). DESIGN: Anobservational study. SETTING: University Research Centre. SUBJECTS: Nine Duchennechildren (age range 6-12 y), mean relative weight 128%, agreed to undergo theinvestigation and all of them completed the study; INTERVENTIONS: Assessment ofbody composition (total body fat and skeletal muscle mass) by magnetic resonanceimaging and resting energy expenditure by indirect calorimetry. MAIN OUTCOMEMEASURES: Fat mass (FM; kg and percentage weight), fat-free mass (FFM; kg andpercentage weight), muscle mass (kg and percentage weight), resting energyexpenditure (kJ/kg body weight and kJ/kg fat-free mass). RESULTS:: In Duchennechildren fat mass averages 32% and total skeletal muscle mass 20% of body weight.Resting energy expenditure per kg of body weight falls within the normal rangefor children of the same age range, while when expressed per kg of FFM issignificantly higher than reference values. No relationship was found between REEand total skeletal muscle mass. CONCLUSIONS: Our results do not demonstrate a lowREE in DMD boys; on the contrary REE per kg of FFM is higher than normal,probably due to the altered FFM composition. We suggest that the development ofobesity in DMD children is not primarily due to a low REE but to other causessuch as a reduction in physical activity and or overfeeding.PMID: 12571659 [PubMed - indexed for MEDLINE]9.Metabolism. 2001 Oct;50(10):1181-5.
Paradoxical weight loss with extra energy expenditure at brown adipose tissue inadolescent patients with Duchenne muscular dystrophy.Satomura S, Yokota I, Tatara K, Naito E, Ito M, Kuroda Y.Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima,Japan.We examined the energy expenditure in patients with Duchenne musculardystrophy(DMD) to evaluate the cause of the paradoxical weight loss observed inlarge numbers of adolescent patients before any obvious impairment of theirswallowing function. In the morning, resting energy expenditure (REE)/m(2) wasalmost the same as that in normal controls despite a reduction in fat-free mass(FFM); thus, REE/m(2)/FFM was significantly increased in patients (median, 21.2kcal/m(2)/FFM kg; range, 17.7 to 44.2, P =.012). A thermographic examination inthe morning showed an obvious elevation of the body surface temperature on theback. This phenomenon was consistent with a paradoxical fall in the low frequency(LF)/high frequency (HF) ratio at night analyzed using the inter-RR spectrum by24-hour electrocardiogram, which indicated relative activation of the sympatheticnervous system. The urinary secretion of norepinephrine at night was alsosignificantly greater in patients (median, 0.119 microg/kg/h; range, 0.061 to0.219, P =.011). These results suggest that paradoxical activation of thesympathetic nervous system may accelerate the production of heat in brown adiposetissue (BAT) and increase the level of energy consumption in patients, and thatadolescent DMD patients may require greater caloric intake than expected tomaintain body weight, which is important to improve the prognosis of theirrespiratory function. Copyright 2001 by W.B. Saunders CompanyPMID: 11586490 [PubMed - indexed for MEDLINE]10.Phys Med Rehabil Clin N Am. 1998 Feb;9(1):127-43.Nutritional aspects of neuromuscular diseases.McCrory MA, Wright NC, Kilmer DD.Energy Metabolism Laboratory, Jean Mayer USDA Human Nutrition Research Center onAging, Tufts University, Boston, Massachusetts, USA.Evidence suggests that individuals with DMD have reduced skeletal development,including decreased linear growth and bone mineral density, compared to normalsubjects. Despite their reduced muscle mass, a high percentage of DMD patientsare overweight. Body composition measurements can assist with monitoring changesin fat mass and skeletal muscle mass as the disease progresses. Weight managementin overweight DMD patients is indicated because excess adiposity burdens mobilityand breathing, but only one study in two DMD patients has documented that weightreduction can be done safely. In the latter stages of the disease most DMDsubjects become underweight because of an acceleration in skeletal muscle proteindegradation relative to its synthesis. Studies of energy, protein and branched
chain amino acid supplementation in DMD have yielded promising but inconclusiveresults, and more well-designed studies are needed in this area. Although thereis currently no cure for DMD, studies on the role of nutritional therapy inincreasing the quality of life in these patients are urgently needed. Studies inadults with various SP-NMDs indicate a reduction in fat-free mass and an increasein fat mass relative to controls. The newly developed method of air displacementplethysmography for measuring body composition is ideally suited for SP-NMDsubjects because it requires very little effort and the measurement procedure isrelatively fast. Dual energy x-ray absorptiometry technology has been proposedfor distinguishing myogenic from neurogenic SP-NMDs from calculation of thefat-to-lean soft tissue ratio, which is higher in patients with myogenic muscularatrophy. Studies on the energy metabolism of ambulatory SP-NMD subjects indicatethat their basal metabolic rate is either similar to or slightly lower thancontrols, but 24-hour energy expenditure is about 25% lower than controls. Thisreduction in 24-hour energy expenditure is due to a reduction in physicalactivity in SP-NMD. Studies examining the roles of energy expenditure, physicalactivity, and diet in the development of adiposity and risk for secondary chronicdiseases in SP-NMD subjects are currently underway.PMID: 9894137 [PubMed - indexed for MEDLINE]11.Reprod Nutr Dev. 1998 Mar-Apr;38(2):181-6.Duchenne muscular dystrophy: a model for studying the contribution of muscle toenergy and protein metabolism.Hankard R.Centre d'investigation clinique, Hôpital Robert-Debré, Paris, France.[email protected]Duchenne muscular dystrophy (DMD) is associated with a dramatic muscle mass loss.We hypothesized that DMD would be associated with significant changes in bothenergy and protein metabolism. We studied the resting energy expenditure (REE) inDMD and control children using indirect calorimetry, and their protein metabolismusing an intravenous infusion of leucine and glutamine labeled with stableisotopes. In spite of a 75% muscle mass loss in the DMD children, the REE onlydecreased by 10%. DMD was associated with increased leucine oxidation but neitherprotein degradation nor protein synthesis were different from that of thecontrols. In contrast, whole body turnover of glutamine, an amino acid mainlysynthesized in the muscle, was significantly decreased. These studies emphasizedthe quantitatively poor contribution of muscle to energy and protein metabolismin children. The qualitative impact of muscle mass loss on amino acid metabolism(glutamine) offers a fascinating field of research for the next few years and hastherapeutic potential.PMID: 9638792 [PubMed - indexed for MEDLINE]12.J Nutr Sci Vitaminol (Tokyo). 1992 Apr;38(2):155-61.
Predictions of energy intake and energy allowance of patients with Duchennemuscular dystrophy and their validity.Okada K, Manabe S, Sakamoto S, Ohnaka M, Niiyama Y.Department of Nutrition, School of Medicine, University of Tokushima, Japan.Patients with Duchenne muscular dystrophy are so malnourished that energysupplementation is crucial. Their degree of energy deficiency was assessed asdifference between their energy intake and their energy allowance, which werededuced from easily measured parameters. A significant, negative relationship wasfound between the basal metabolic rate (BMR) (Y, %, BMR/standard BMR) and bodyweight (X, %, body weight/standard body weight) in the patients, from which theformula for the BMR was deduced to be Y = -1.116X + 174.5 (n = 202, r = -0.72, pless than 0.001). Thus, it is possible to estimate the energy allowance forindividual patients by a factorial procedure from the presumed BMR and a factorfor physical activity. In addition, their energy intake was calculated from aconstant protein-energy % (14.6%) in their diet and nitrogen intake which wasdeduced from a significant positive correlation between their nitrogen intake (Y,mg/kg/day) and their nitrogen excretion in 24 h urine samples (X, mg/kg/day).This correlation conformed to the equation Y = 1.053X + 32.4 (n = 267, r = +0.76,p less than 0.001). The validities of the above predictions for energy intake andallowance were examined by plotting the degree of energy deficiency (% ratio ofpresumed intake/presumed allowance) against the concentrations of retinal bindingprotein, prealbumin and transferrin in the serum, because rapid turnover proteinsare sensitive to energy deficiency. Significant positive correlations wereobtained with both variables, suggesting that these predictions were valid.PMID: 1506921 [PubMed - indexed for MEDLINE]13.J Nutr Sci Vitaminol (Tokyo). 1992 Apr;38(2):141-54.Protein and energy metabolism in patients with progressive muscular dystrophy.Okada K, Manabe S, Sakamoto S, Ohnaka M, Niiyama Y.Department of Nutrition, School of Medicine, University of Tokushima, Japan.Studies were made on whether body weight loss in patients with muscular dystrophyis due to reduced intake and/or abnormal expenditure of energy. For this, foodintakes and various physiological variables were surveyed in totals of 310patients with Duchenne muscular dystrophy (DMD) of 11 to 29 years old and 28patients with limb-girdle muscular dystrophy (LGMD) of 30 to 47 years old. Energyand protein intakes, expressed on a unit body weight basis, in DMD patients werecomparable to, or higher than the allowances for age-matched healthy controls,whereas those in LGMD patients were 92 and 94% respectively of these allowances.The basal metabolic rate (BMR), expressed as kcal/kg/day, of DMD patients of allages was higher than that of controls, the difference increasing with age, andbeing about 20 to 30% higher than that of controls in older patients with DMD.
The BMR of LGMD patients was nearly normal. The maintenance requirements ofconventional dietary protein in DMD and LGMD patients were 1.26 and 0.84g/kg/day, respectively. These values were about 68 and 12% higher than the normaladult value (0.75 g/kg/day), indicating decreased protein utilization andincreased protein catabolism. Daily excretion of urinary 3-methylhistidine (3MH)per unit muscle mass (micrograms/mg creatinine) by MD patients was significantlyhigher than that by controls, indicating increased degradation of muscle protein.The BMR, maintenance protein requirement and 3MH excretion of DMD patientssuggest that DMD is a hypercatabolic disease. Comparison of the energy andprotein intakes with the allowances estimated in consideration of increasedrequirements showed deficiencies of energy and protein in DMD patients. Thus, weconclude that the underweight of the DMD patients resulted from nutrientdeficiencies due to hypercatabolism, despite their considerably high intakes ofenergy and protein, expressed as per kg body weight. These deficiencies wereconfirmed by demonstrating decreased concentrations of free essential aminoacids, particularly branched chain amino acids, in their serum. The values ofvariables of LGMD patients were intermediate between those of DMD patients andcontrol subjects.PMID: 1506920 [PubMed - indexed for MEDLINE]