Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study

Abstract

Background"Use it or lose it" is a well known saying which is applicable to boys with Duchenne Muscular Dystrophy (DMD). Besides the direct effects of the muscular dystrophy, the increasing effort to perform activities, the fear of falling and the use of personal aids indirectly impair leg and arm functions as a result of disuse. Physical training could oppose this secondary physical deterioration. The No Use is Disuse (NUD) study is the first study in human subjects with DMD that will examine whether a low-intensity physical training is beneficial in terms of preservation of muscle endurance and functional abilities. The study consists of two training intervention studies: study 1 "Dynamic leg and arm training for ambulant and recently wheelchair-dependent boys with DMD and, study 2 "Functional training with arm support for boys with DMD who have been confined to a wheelchair for several years". This paper describes the hypotheses and methods of the NUD study.MethodsStudy 1 is an explorative randomized controlled trial with multiple baseline measurements. Thirty boys with a DNA-established diagnosis of DMD will be included. The intervention consists of a six-months physical training during which boys train their legs and arms with active and/or assisted cycling training equipment. The primary study outcomes are muscle endurance and functional abilities, assessed with a Six-Minute Bicycle Test and the Motor Function Measure. Study 2 has a within-group repeated measurements design and will include ten boys with DMD who have already been confined to a wheelchair for several years. The six-months physical training program consists of 1) a computer-assisted training and 2) a functional training with an arm support. The primary study outcome is functional abilities of the upper extremity, assessed with the Action Research Arm Test.DiscussionThe NUD study will fill part of the gap in the current knowledge about the possible effects of training in boys with DMD and will increase insight into what type of exercise should be recommended to boys with DMD. The study will finish at the end of 2010 and results are expected in 2011.Trial registrationThe Netherlands National Trial Register1631

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

“…Overall, low-intensity exercises are recommended while still ambulatory, and mobilizing passive or actively-assisted exercises are recommended for non-ambulatory patients (Jansen, 2010). Physical training and physiotherapy are especially effective in combination with corticosteroid use (Manzur, 2009;Jansen, 2010).…”

Duchenne musküler distrofi’de üst ekstremite dinamik egzersizinin solunum fonksiyonu ve yaşam kalitesi üzerine etkisi

“…DMD, distrofin isimli hücre membran proteininin tam veya kısmi (<%3) eksikliği ile karakterizedir (6). Distrofin eksikliği, kas fibrillerinin sürekli dejenerasyonu ile iskelet kasları, solunum ve kalp kasları kuvvetinde ve fonksiyonel becerilerde progresif kayba neden olmaktadır (7)(8)(9).…”

“…Ancak hastalı-ğın erken dönemlerinden itibaren üst ekstremiteyi içeren egzersiz uygulamalarının bu hastaların fonksiyonlarına olan etkilerini gösteren yayınlar sınırlı-dır (6,9). Çalışmamızın amacı; erken dönem DMD'li çocuk-larda üst ekstremite dinamik egzersizinin solunum fonksiyonu ile çocuğun ve ebeveynin yaşam kalitesi üzerindeki etkilerini incelemektir.…”

Análise comparativa da força, potência e fadiga muscular de crianças e adolescentes saudáveis e com mielomeningocele

“…A escoliose é frequentemente observada e caso progrida, ocasiona instabilidade postural, piora da capacidade vital respiratória e dor lombar (JANSEN et al, 2010).…”

“…A atrofia muscular observada nas doenças neuromusculares, resultante do desuso progressivo, exige um aumento no recrutamento de unidades motoras, e consequentemente, aumenta a probabilidade de geração de fadiga, que é um fator grave, pois pode predispor a lesão das fibras musculares (EDGERTON et al, 2002). O treinamento muscular pode promover benefícios no desempenho motor (BEHRINGER et al, 2011), na adequação da composição corporal de crianças com sobrepeso ou obesidade (McGUIGAN et al, 2009), na melhora em relação à autopercepção sobre a imagem corporal (LUBANS, AGUIAR, CALLISTER, 2010), diminuir riscos cardiovasculares e de lesões, promover melhora no bem-estar psicossocial (FAIGENBAUM et al, 2008), aumentar o tamanho do músculo, a força e a resistência em indivíduos saudáveis (ANSVED, 2001) e ainda, poderia opor-se a deterioração secundária de tecido muscular e à perda de habilidades funcionais, como resultado de desuso (JANSEN et al, 2010). Estes temas têm sido discutidos em pacientes com disfunções periféricas como doenças neuromusculares e espinha bífida (LINDEMAN et al, 1999;OLIVEIRA et al, 2010).…”