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BACKGROUND
Most common muscular dystrophy Affects 1 in 4000 male infants Inherited X-linked recessive Approx 1/3 cases are new mutation Deletion of chromosome material on short
arm of X chromosome This area codes for dystrophin which
maintains integrity of muscle cell wall. Proximal muscle weakness
PRESENTATION
May present with difficulty walking, climbing, running and jumping
Waddling gait Average age of diagnosis is 5.5 years Calf muscle may look bulky Symptoms usually start between ages 1-3 Can have mild learning difficulties First presentation may be with developmental
delay Selective atrophy of muscle eg pectoralis
major Clumsy and slower than peers
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PROGNOSIS
Progressive muscle atrophy Often wheelchair bound by mid-teens Life expectancy – late teens to early 20s due
to respiratory failure and associated cardiomyopathy
COMPLICATIONS
Mobility Osteoporosis Contractures – commonly at ankle Scoliosis Nutrition – may be over weight early in
disease due to steroid treatment, may be malnourished in later stages due to swallowing problems
Breathing problems Cardiomyopathy
MANAGEMENT
Contractures major issue – passive stretching and night splints may help
Achilles tendon surgery Steroids Appropriate exercises to help maintain muscle
power and mobility, may help delay onset of scoliosis
Braces may be needed for scoliosis management
Regular health checks to look for complications Respiratory aids may improve symptoms of
nocturnal hypoxia
FURTHER INFO AND PATIENT SUPPORT
www.muscular-dystrophy.org www.actionduchenne.org
Inside I’m Dancing - film 2004