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

Contains fulltext : 89740.pdf (publisher's version ) (Open Access)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. METHODS: Study 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. DISCUSSION: The 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 REGISTRATION: The Netherlands National Trial Register1631

Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources

Background: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are recessive X-linked disorders characterized by progressive muscle weakness and ultimately cardiac and respiratory failure. Immediate family members are often primary caregivers of individuals with a dystrophinopathy. Methods: We explored the impact of this role by inviting primary caregivers (n = 209) of males diagnosed with childhood-onset dystrophinopathy who were identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to complete a mailed questionnaire measuring perceived social support and stress, spirituality, and family quality of life (FQoL). Bivariate and multivariate analyses examined associations between study variables using the Double ABCX model as an analytic framework. Results: Higher stressor pile-up was associated with lower perceived social support (r = -0.29, p 0.05). FQoL was positively associated with all support measures (correlations ranged from: 0.25 to 0.58, p-values 0.01-0.001) and negatively associated with perceived stress and control (r = -0.49, p <.001). The association between stressor pile-up and FQoL was completely mediated through global perceived social support, supportive family relationships, and perceived stress and control; supportive non-family relationships did not remain statistically significant after controlling for other mediators. Conclusions: Findings suggest caregiver adaptation to a dystrophinopathy diagnosis can be optimized by increased perceived control, supporting family resources, and creation of a healthy family identity. Our findings will help identify areas for family intervention and guide clinicians in identifying resources that minimize stress and maximize family adaptation.CDC [5U01DD000831, 5U01DD000187, 5U01DD000189, 5U01DD000191, 5U01DD000190]This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach Distrofias musculares de cinturas: uma abordagem diagnóstica imuno-histoquímica

The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, delta-SG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.<br>As distrofias musculares de cinturas (DMC) representam grupo heterogêneo de doenças musculares com heranças autossômicas dominante ou recessivas, caracterizadas geneticamente por mutações gênicas específicas. Cinqüenta e seis pacientes, 32 masculinos e 24 femininos, com diagnóstico sugestivo de DMC, foram submetidos a avaliação clínica, dosagem séricas das enzimas musculares, eletromiografia, biópsia muscular e imunoidentificação (ID) das proteínas sarcoglicanas (SG) alfa, beta, gama e delta, disferlina e calpaína-3. A ID da distrofina (domínio rod e terminais carboxila e amino) era normal em todos os pacientes. Apresentaram ID normal para alfa-SG 42 casos, beta-SG 28, gama,-SG 45, delta-SG 32, disferlina 37 e calpaína-3 9. Foi observada redução de alfa-SG em 7 pacientes, beta-SG em 4, gama-SG em 2 e delta-SG em 8. Houve deficiência de alfa-SG em 7 pacientes, beta-SG em 6, gama-SG 9, delta-SG em 5, disferlina em 8 e calpaína-3 em 5. Os pacientes foram classificados de acordo com a ID em deficiência de SG em 18 casos, disferlina em 8 e calpaína-3 em 5. A hipertrofia de panturrilhas foi observada apenas no grupo com deficiência de SG. O grupo com deficiência de disferlina teve maior número de mulheres acometidas e a idade de início dos sintomas foi mais tardio em relação aos grupos com deficiência de SG e calpaína-3. O grupo com deficiência de calpaína-3 ocorreu apenas em pacientes do sexo masculino, a idade do início dos sintomas foi menor e teve maior fraqueza muscular