Using a number of different methods, it is confirmed that approximately one third of all cases of X-linked Duchenne muscular dystrophy are new mutants, the remainder being sons of carriers.

Background Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is an inherited disease characterized by progressive muscle weakness and degeneration. Besides the relatively well-described skeletal muscle degenerative processes, DMD and some other muscular dystrophy types are also associated with cardiovascular complications including cardiomyopathy and cardiac arrhyth...

This report has been written for families who have one or more boys with Duchenne muscular dystrophy. It explains some basic scientific facts and shows the now numerous approaches with which research is trying to find a scientifically justified and thus effective therapy of Duchenne muscular dystrophy. Because scientists in more than one hundred laboratories in many countries of the world are w...

In recent years, complementary and alternative medicine has become increasingly popular. This trend has not escaped the Duchenne Muscular Dystrophy community with one study showing that 80% of caregivers have provided their Duchenne patients with complementary and alternative medicine in conjunction with their traditional treatments. These statistics are concerning given that many supplements a...

Muscular dystrophy is one of the rare diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. There are many different types of muscular dystrophy based on the age of onset, severity and pattern of inheritance, of which duchenne and becker muscular dystrophies being more prevalent. The absence or abnormality of dystrophin, a protein which fo...

Oculopharyngeal muscular dystrophy is an infrequent, not widely known entity. Of genetic origin, it usually shows up in the 5th or 6th decade of life. Most cases are referred directly to the gastroenterologist by their general practitioner and not to the otolaryngologist, so it is essential to be aware of this disease to suspect it. We report a case diagnosed and treated in our hospital and we ...

BACKGROUND Cardiomyopathy is reported in Duchenne and Becker muscle dystrophy patients and female carriers. Brain Natriuretic peptide (BNP) is a hormone produced mainly by ventricular cardiomyocytes and its production is up regulated in reaction to increased wall stretching. N-terminal-proBNP (NT-proBNP) has been shown to be a robust laboratory parameter to diagnose and monitor cardiac failure,...