The use of serum creatine kinase (SCK) estimations in the detection of female carriers of the severe (Duchenne-type) X-linked muscular dystrophy was first introduced by Okinaka and his colleagues in 1959, and since then the value of this test has been confirmed by many others (Dreyfus and Schapira, 1961; Hughes, 1963; Richterich, et al, 1963; Emery, 1965; Rotthauwe and Kowalewski, 1965; Wilson,...

A number of recent hypotheses have attempted to explain the ultimate evolutionary origins of laughter and humor. However most of these have lacked breadth in their evolutionary frameworks while neglecting the empirical existence of two distinct types of laughter--Duchenne and non-Duchenne--and the implications of this distinction for the evolution of laughter as a signal. Most of these hypothes...

BACKGROUND Duchenne muscular dystrophy results from mutation of the dystrophin gene, causing skeletal and cardiac muscle loss of function. The mdx mouse model of Duchenne muscular dystrophy is widely utilized to evaluate the potential of therapeutic regimens to modulate the loss of skeletal muscle function associated with dystrophin mutation. Importantly, progressive loss of diaphragm function ...

There have been reports of abnormal retinal neurotransmission determined by electroretinography in boys with Duchenne and Becker muscular dystrophy. Dystrophin may play a role in transmitting signals between photoreceptors and the excitatory synapse of the ON-bipolar cell. These electroretinographic changes appeared to be limited to the rod ON-pathway but we felt there was also similar abnormal...

Duchenne muscular dystrophy is a debilitating X-linked disease with limited treatment options. We examined the possibility of moving forward with gene therapy, an approach that demonstrates promise for treating Duchenne muscular dystrophy. Gene therapy is not limited to replacement of defective genes but also includes strategies using surrogate genes with alternative but effective means of impr...

OBJECTIVE To assess quality of life of adults with Duchenne muscular dystrophy in the Netherlands and to identify domains and major problems influencing quality of life. DESIGN Cross-sectional. SUBJECTS Seventy-nine men aged ≥ 20 years with Duchenne muscular dystrophy. METHODS The Medical Outcome Study Short Form-36 (SF-36), World Health Organization Quality of Life - BREF (WHOQOL-BREF) a...

Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy. Antisense oligomer-induced exon skipping can modify dystrophin gene expression so that a disease-associated dystrophin pre-mRNA is processed into a Becker muscula...

PURPOSE To identify an animal model for the abnormal scotopic electroretinogram found in a majority of Duchenne and Becker muscular dystrophy patients. METHODS Ganzfeld electroretinograms were recorded in dark-adapted normal C57BL/6 mice, and two strains of mice with different X-linked muscular dystrophy mutations (mdx and mdxCv3). Responses for the right eye were averaged and the amplitudes ...

PURPOSE The purpose of this study is to evaluate maxillofacial morphology and bite force in patients with severe Duchenne-type myodystrophy. PATIENTS AND METHODS The subjects included 24 men (average age, 21.5 years; range, 17 to 30 years) with Duchenne-type muscular dystrophy receiving treatment in National Ioh Hospital. Lateral and axial cephalograms were used to assess the morphology in th...

PURPOSE OF REVIEW Duchenne muscular dystrophy is a progressive muscle degenerative disease caused by dystrophin mutations. The purpose of this review is to highlight two emerging therapies designed to repair the primary genetic defect, called 'exon skipping' and 'nonsense codon suppression'. RECENT FINDINGS A drug, PTC124, was identified that suppresses nonsense codon translation termination....