About Duchenne

About Duchenne Muscular Dystrophy Physiotherapy About Becker Muscular Dystrophy Learning and Behaviour Siblings Steroid Protocols and Studies Cardiac Information Respiratory Care Multidisciplinary Care  DMD Presentation

About Duchenne Muscular Dystrophy Duchenne(DMD) and Becker(BMD) muscular dystrophy are X linked recessive neuromuscular disorders causing progressive muscular weakness in skeletal and cardiac muscle. Duchenne Muscular Dystrophy (DMD) is the number one life-limiting disorder of childhood globally. The gene for Duchenne was isolated in 1986 and the specific biochemical defect for this, the most common of the muscular dystrophies, was identified in 1987. These remarkable discoveries have paved the way for the identification of other specific genetic and biochemical defects in other muscular dystrophies. Although many cases are genetically inherited, the latest research suggests that approximately 35 per cent of all DMD cases are the result of random, spontaneous genetic mutation. This means that it is possible for any parents to produce a child with Duchenne (. 1: 10,000 sperm or eggs are thought to carry a new mutation) Each year around the world, nearly 20,000 children, mostly boys, are born with the disorder. Early diagnosis is crucial  as  progression is delayed with early intervention.  It affects approximately 1 in every 3,300 boys. Surveillance (counting) was commenced in the USA in 2001 through a grant to the Centers for Disease Control and Prevention (CDC). The actual figures are unknown and are not counted in Australia. NEW - The Diagnosis and Treatment of DMD - A Guide for Families  For more information links click here. Duchenne is a common relentlessly progressive disorder of skeletal, cardiac and smooth muscle. Loss of muscle power and subsequent loss of function is caused by the absence of "dystrophin", a muscle stabilising protein found in many parts of the body including all three types of muscle, nerves and the brain. On average boys lose the ability to walk by 10 years of age, have respiratory insufficiency in their teenage years, and most have cardiac involvement from an early age to varying degrees. Lifespan is shortened to late teens to early twenties without specialist quality care. The tell-tale "Gower's Sign" of Duchenne