DUCHENNE’S MUSCULAR DYSTROPHYKate Chipchase

Vts teaching Feb 2012

ST2

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

GOWER’S SIGN

http://www.youtube.com/watch?v=bI6utCce_3g

http://www.youtube.com/watch?v=IpoT46EAuCU&feature=related

PROGNOSIS

Progressive muscle atrophy Often wheelchair bound by mid-teens Life expectancy – late teens to early 20s due

to respiratory failure and associated cardiomyopathy

DIAGNOSIS

CK (10-100 * higher than normal) Muscle biopsy Genetic testing

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

REFERENCES

Patient.co.uk Illustrated textbook of paediatrics (Lissauer,

Clayden)