Zellweger H, Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics 1975 ;55 :30-4. 2 Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. Interviews with parents of boys suffering from Duchenne muscular dystrophy. Dev Med Child Neurol (in press). 3 Beckmann R, Scheuerbrandt G. Muskeldystrophie (Duchenne)Friiherkennung, CK-Screeningtest, Konsequenzen. Der Kinderarzt 1977;8 :313-...

Osmotic fragility of erythrocytes was studied in ten Duchenne dystrophic patients and eight healthy controls. Lysis started in Duchenne crythrocytes at a concentration of 6.5 g/l NaC1 and in the control erythrocytes at a concentration of 5.5 gIl NaCI. At all concentrations of sodium chloride (from 6.5 g/l to 4.5 g/l) significantly greater lysis was observed in the erythrocytes of dystrophic pat...

One of the proposed functions of human smiling is to advertise cooperative dispositions and thereby increase the likelihood that a social partner would invest resources in a relationship. In particular, smiles involving an emotional component would be honest signals of altruistic dispositions because they are not easy to produce voluntarily. In this study, 60 people were covertly filmed while i...

Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were reported to have a comorbid diagnosis of ADHD, 3.1% had autism spectrum disorder, a...

A Distrofia Muscular de Duchenne (DMD) é uma doença congênita hereditária, ligada ao cromossomo X, lócus Px21, responsável por codificar a proteína distrofina.

Facial expressions of emotion have important communicative functions. It is likely that mask-wearing during pandemics disrupts these functions, especially for defined by activity in the lower half face. We tested this asking participants to rate both Duchenne smiles (DSs; mouth and eyes) non-Duchenne or “social” (SSs; alone), within masked unmasked target faces. As hypothesized, SSs were rated ...

Duchenne muscular dystrophy mouse models have a predictable and reproducible time course of cardiomyopathy progression with discrete pathogenic steps, which closely parallel what we know occurs in the cardiomyopathy of patients with Duchenne muscular dystrophy. The slow progression of early pathogenic steps common to many cardiomyopathies may make Duchenne muscular dystrophy models useful for i...

Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of th...

BACKGROUND There is little information on the morphometric characteristics of the diaphragm in patients with Duchenne muscular dystrophy. METHODS The thickness of the diaphragm was measured at the zone of apposition using B mode ultrasonography in 10 boys with Duchenne muscular dystrophy of mean (SD) age 10.3 (1.3) years and 12 normal controls of mean (SD) age 11.3 (2.0) years during relaxati...

Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...