Transcript Duchenne’s Muscular Dystrophy

DUCHENNE’S MUSCULAR
DYSTROPHY
Kate 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)
