A review of nutrition in Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a recessive X linked genetic disorder characterised by progressive muscle weakness and reduced muscle tone. Affecting only boys, it limits life expectancy to approximately 20 years. A literature review was conducted using MEDLINE and the Cochrane Library, employing the term 'Duchenne muscular dystrophy'. A total of 1491 articles in English were recovered. These papers were searched thematically under the headings: body composition (n = 10), energy expenditure (n = 10), nutrition (n = 6), corticosteroid therapy (n = 55) and gene therapy (n = 199). Key dietetic practice points were identified relevant to nutritional management. Papers supporting these key themes were assigned a level of evidence and grade of recommendation. There is limited high-quality evidence to guide the nutritional management of boys with DMD. Currently, the majority of evidence is based on expert opinion and clinical expertise. Delayed growth, short stature, muscle wasting and increased fat mass are characteristics of DMD and impact on nutritional status and energy requirements. The early introduction of steroids has altered the natural history of the disease, but can exacerbate weight gain in a population already susceptible to obesity. Prior to commencing steroids, anticipatory guidance for weight management should be provided. Malnutrition is a feature of end stage disease requiring a multidisciplinary approach, such as texture modification and supplemental feeding. Micronutrient requirements are yet to be determined but, as a result of corticosteroid treatment, vitamin D and calcium should be supplemented. Some evidence exists supporting supplementation with creatine monohydrate to improve muscle strength. More research is needed to provide a higher quality of evidence for dietitians working within this area.

Increasing prevalence of domiciliary ventilation: changes in service demand and provision in the South West of the UK

“…It is likely that these data underestimate the true situation in our patient population, since data entry was not standardised. For example, obesity is frequently recorded in adolescents with DMD, with rates of over 50% [1], and yet, it was only recorded in two patients in this study. It might be anticipated that the frequency of wheelchair use will increase with time, as many patients are currently in infancy, and therefore their relative immobility does not yet warrant supplementary aids.…”

Variables associated with upper extremity function in patients with Duchenne muscular dystrophy

“…On the other hand, a higher BMI is often related to a better nutritional status (even though protein loss may still occur when BMI is high [16, 17]) and malnutrition occurs more often in people with a low BMI, as it is associated with dysphagia, typically occurring in the later stages of DMD [7, 30]. Malnutrition can be related to a lack of energy, increased fatigability, reduced muscle strength, and muscle wasting leading to loss of functional capacity [7, 20]. Thus, a higher BMI may be associated with a reduced likelihood of malnutrition, which could explain the positive relationship with UE function independent of disease stage.…”

Nutritional Challenges in Duchenne Muscular Dystrophy

“…In this group of patients, risks of obesity with ageing are insulin resistance (with increased risk of carbohydrate intolerance and diabetes), dyslipidemia, hypertension, and obstructive sleep apnea [5]. Other complications of being overweight are the acceleration of disease progression due to the exertion of extra force on already weak muscle groups, increased respiratory involvement with worsening pulmonary and cardiac function, and deterioration of skeletal malformations with increased need for orthopaedic surgery [5,17]. In addition, obesity worsens the ability of parents and caregivers to transfer and assist the patient in daily activities when patients lose their independence [15].…”