Muscular Dystrophy including Duchenne Muscular Dystrophy

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Muscular Dystrophy including Duchenne Muscular Dystrophy

The muscular dystrophies are a group of muscle diseases that weaken the musculoskeletal system and lead to impaired locomotion.

The muscular dystrophies are characterised by progressive skeletal muscle weakness cause by defects in muscle proteins and the death of muscle cells.

First described in the 1860s by the French neurologist Guillaume Duchenne, the disease is now recognised as having multiple forms. The major forms are Becker, limb-girdle, congenital, facioscapulaohumeral, myotonic, oculopharyngeal, distal, Emery-Dreifuss and Duchenne, the latter the disorder first identified by Guillaume Duchenne.

Duchenne and Becker muscular dystrophies are caused by defects in the dystrophin gene located on the X chromosome and consequently affect mainly males. Most types of muscular dystrophies are multi-system disorders affecting the heart, gastrointestinal system, nervous system, endocrine glands, eyes and brain as well as skeletal muscle.

Duchenne, the most common childhood form of muscular dystrophy affecting 20,000 children born each year across the world, is a relentlessly progressive and fatal disease. Affected individuals commonly require leg braces by the age of 10 and lose the ability to walk by the age of 12 becoming wheelchair-dependent. Life span is between 15 and 51, although most patients die in the mid 20s to early 30s commonly from respiratory and cardiac complications. Currently, there is no known cure for Duchenne muscular dystrophy. Duchenne is a X-linked genetic disorder.

Related Researchers

Steve Wilton

Molecular Genetic Therapies Group

Professor Wilton completed
his PhD at the University of
Adelaide and worked
in the biotechnology industry

Emeritus Professor
Byron Kakulas

Founding Director

Professor Byron A Kakulas AO
research contributions are very
extensive covering a variety
of fields especially childhood

Professor Sue Fletcher

Molecular Genetic Therapies Group

Professor Sue Fletcher
obtained a BSc in Zoology and
Chemistry in 1976
and a PhD from UWA in 1988