Diagnosis delay of Duchenne Muscular Dystrophy

Araújo, Alexandra Prüfer de Queiroz Campos; Deco, Mariana Castro de; Klôh, Beatriz de Sá; Costa, Mariana Rangel da; Góis, Fernanda Veiga de; Guimarães, A F

doi:10.1590/s1519-38292004000200008

Cited by 18 publications

(19 citation statements)

References 11 publications

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“…Os sinais clínicos respiratórios se exacerbam com o aumento da carga mecânica sustentada a cada movimento respiratório, pela musculatura respiratória já enfraquecida promovendo a redução da complacência pulmonar e da mobilidade da caixa torácica e, por conseguinte hipercapnia, hipoventilação pulmonar, hipoxemia (secundária a hipercapnia) e clearence de secreções (Araujo et al 2004).…”

Section: Introductionunclassified

Arquitetura comparativa dos pulmões de camundongos normais e afetados pela Distrofia Muscular de Duchenne

et al. 2015

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RESUMO.-A Distrofia Muscular de Duchenne (DMD) é uma doença genética de caráter recessivo que caracterizada por fraqueza muscular progressiva de cintura pélvica e escapular evoluindo para insuficiência respiratória e, ou cardíaca. O camundongo mdx é um modelo amplamente utilizado para estudos da DMD. Apesar do fenótipo destes animais serem mais suave, estes apresentam o principal músculo respiratório, o diafragma com morfologia e bioquímica semelhante à DMD humana, fato este que pode comprometer a função respirató-ria e consequentemente os pulmões. Foi realizado um estudo anatômico descritivo do parênquima pulmonar dos pulmões de 5 animais modelo mdx comparando estes com os pulmões de 5 camundongos BALB/C57 (Mus musculus). Os pulmões foram analisados macroscopicamente e através de microscopia de luz e eletrônica de varredura. Os achados sugerem que o modelo mdx apresenta morfologia pulmonar semelhante aos camundongos BALB/C57 e que seu uso deve ser cauteloso e criterioso em ensaios clínicos que aborde este órgão.TERMOS DE INDEXAÇÃO: Distrofia muscular, Duchenne, mdx, morfologia pulmonar, anatomia respiratória. INTRODUÇÃOA anatomia descritiva constitui parte dos princípios primordiais da pesquisa, uma vez que esta descreve tecidos biológicos fornecendo dados morfológicos importantes para análises de estudos de afecções que envolvem alterações teciduais e reparo.A Distrofia Muscular de Duchenne (DMD) é uma doença neuromuscular, de origem hereditária de caráter recessivo, incidindo em meninos em 1 a cada 3500 nascidos. Sua evolução é rápida e severa caracterizada por uma mutação do gene que codifica a proteína 427 kDA chamada distrofina. A distrofina corresponde por cerca de apenas 0,002% da massa proteica da célula muscular estriada, e está localizada na superfície intracelular do sarcolema e se associa a várias glicoproteínas integrais da membrana, formando The Duchenne Muscular Dystrophy (DMD) is a recessive genetic disease characterized by progressive muscle weakness of the pelvic and scapular girdle and progressing to respiratory or heart failure. The mdx mouse is a model widely used for studies. Although they possess a milder phenotype, the morphology and biochemistry of the diaphragm are similar to human DMD. We performed a descriptive anatomical study of the pulmonary parenchyma of five mdx animal models and compared these with the lungs of 5 mice BALB/ C57 (Mus musculus). The findings suggest that the mdx model has morphological features similar to BALB/C57 mice and it must be used with caution in clinical trials which involve the lung.

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Section: Introductionunclassified

Arquitetura comparativa dos pulmões de camundongos normais e afetados pela Distrofia Muscular de Duchenne

et al. 2015

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“…During this period, these patients are affected by scoliosis structural deformities, mainly responsible for the lung function decrease. Due the respiratory muscles weakness and structural deformities, it can observed the hipercarpnia, pulmonary hypoventilation, hypoxemia (secondary hipercarpnia) and therefore, secretion clearance, decreased lung compliance and chest mobility, increasing the mechanical loading sustained every respiratory movement by the weak musculature 4 .…”

Section: Introductionmentioning

confidence: 99%

Laparoscopic guided local injection in the X-linked muscular dystrophy mouse (mdx) diaphragm. An advance in experimental therapies for Duchenne Muscular Dystrophy

Lessa

Carvalho²,

Spagnolo³

et al. 2014

Acta Cir. Bras.

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PURPOSE:To investigate the development of a laparoscopy technique for local injection into the X-linked muscular dystrophy (mdx) diaphragm. METHODS:It was used 10 mice Balb/C57 and 5 mdx mice and three differents decubitus type were tested: the right lateral, supine, and supine decubitus with 20 degrees elevation of the forelimb. Abdominal caudal face and the 10 intercostal space were tested as spot to introduce the needle into the diaphragm. RESULTS:Supine position with elevation of 20 degrees forelimb and the 10th intercostal space are the beneficial position to apply a local injection. CONCLUSION:It was proved to be possible to perform the laparoscopy technique in the X-linked muscular dystrophy diaphragm and this requires a specific position and technique during the surgery.

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“…It is caused by the absence of the protein dystrophin, due to a deletion in the dystrophin gene, located on chromosome Xp21 [2], leading to a disruption in the mechanism of calcium release. A controlled release of calcium is essential for the muscle fiber contraction and affected cells are susceptible to sarcolemma rupture during contraction.…”

Section: Introductionmentioning

confidence: 99%

Decreased Gait and Function in Duchenne Muscular Dystrophy

Iwabe-Marchese¹,

Fávaro²,

Luiz³

2014

OJTR

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Duchenne muscular dystrophy (DMD) is a genetic disorder linked to chromosome Xp21, due to absence of dystrophin production. It is clinically characterized by progressive muscle weakness, fatigue, and development of joint contractures that compromise general motor functionality, mainly the gait. Objective: To characterize the motor function and decrease gait in children with DMD using the Portuguese version of the Motor Function Measure scale (MFM-P). Methods: A review of medical records including chronological age and scores from MFM-P of children with a DMD who attended at the Neuromuscular Diseases Clinic at Campinas State University (UNICAMP), Brazil was performed in this study. A total of 36 medical records of male patients with confirmed clinical diagnosis of DMD, ambulatory or not, regardless of age; excluding those with other associated diseases or other types of muscular dystrophies were selected. Data were analyzed using Kolmogorov-Smirnov and Spearman correlation statistical tests. Results: Analysis of all data collected showed that 75% of our sample had D1 scores lower than 41.02%. There was a linear relationship between the scores of D2 and D3, but no association between D2 and D1 scores was noted. D1 score was between 40% and 80% in those patients presenting D2 scores between 80% and 100%. In all cases patients with low total score presented a greater risk for loss of gait and their functionality. Conclusion: The standing posture and the postural transfers were the worst activities observed in children with DMD, with positive correlation between proximal and distal motor function. Even with high scores according MFM-P in proximal function, the children showed strong predictors for loss of gait.

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Diagnosis delay of Duchenne Muscular Dystrophy

Cited by 18 publications

References 11 publications

Arquitetura comparativa dos pulmões de camundongos normais e afetados pela Distrofia Muscular de Duchenne

Arquitetura comparativa dos pulmões de camundongos normais e afetados pela Distrofia Muscular de Duchenne

Laparoscopic guided local injection in the X-linked muscular dystrophy mouse (mdx) diaphragm. An advance in experimental therapies for Duchenne Muscular Dystrophy

Decreased Gait and Function in Duchenne Muscular Dystrophy

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