Introduction

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy in children. DMD is caused by deficiency in dystrophin, a protein which forms part of the Dystrophinassociated Glycoprotein Complex (DGC), whose components also include sarcoglycan, dystroglycan, syntrophin, dystrobrevin and other molecules. DMD is characterised by progressive proximal muscle weakness, which mostly develops in toddler boys after an initial disease-free period. No curative treatment is available to date; however, improved management of orthopaedic, cardiac and respiratory complications considerably increases quality of life and survival of DMD patients.

Management

The use of night splints (also called ankle-foot orthoses or cruropedal braces) is recommended for limiting tendon contracture in the early stages of Achilles tendon tightening. However, these offer limited...

 

Epidemiology and clinical diagnosis

Muscle biopsy confirms histologically the presence of muscular dystrophy, with characteristic features including muscle fiber necrosis and regeneration, together with varying degrees of tissue fibrosis...

 

Genetic aspect

The dystrophin gene found in DMD is located at Xp21, and has 7 tissue-specific promoters. To date, 16 different DMD mRNA have been identified...

 

Therapeutic clues

Based on the experience of Anglo-Saxon countries, we suggest long-term systemic treatment with oral corticosteroids at a dose of 0.75 mg/kg/day for Prednisone or 0.9 mg/kg/day for Deflazacort, starting in patients who...

 

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