During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This stud...

Duchenne de Boulogne was among the first to investigate neuromuscular diseases. He stimulated muscle and nerve with moistened surface electrodes, thereby avoiding tissue necrosis. Technique and self-designed equipment are discussed in his first major work de l'électrisation localisée. During his 30 years of practice, he examined several hundred patients with poliomyelitis. With electrodiagnosti...

In order to evaluate the effect of exercise on serum creatine kinase levels, blood samples were obtained from 17 normal females and 12 Duchenne muscular dystrophy carriers before and 9 hours after moderately strenuous exercise. The results revealed that after exercise serum creatine kinase levels may be better indicators of carrier status than resting levels. The mean serum creatine kinase leve...

Background Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. Findings We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this...

Duchenne muscular dystrophy (DMD), the most common inherited neuromuscular disorder, is characterized by progressive muscle wasting and weakness. One third of Duchenne patients suffer a moderate to severe, nonprogressive form of mental retardation. Mutations in the DMD gene are thought to be responsible, with the shorter isoforms of dystrophin implicated in its molecular brain pathogenesis. It ...

Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failure to manufacture dystrophin. Clinically, it is characterized by progressive muscle wasting eventually leading to premature death. This case report describes the genetic, oral and systemic findings ...

this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...

We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurological disorders may overshadow each other. In addition, it demonstrates that every chi...

The PKU sample, if taken after the 3rd day, is suitable for Duchenne muscular dystrophy screening using creatine phosphokinase (CPK) levels. 101 babies (53 girls and 48 boys) had CPK levels measured on filter paper blood specimens taken by heel prick on the 1st and 4th days of life. The method used was that described by Zellweger and Antonik (1975). The CPK levels were markedly raised on the 1s...