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Current Orthopaedics (2007) 21, 298300

Available at www.sciencedirect.com

journal homepage: www.elsevier.com/locate/cuor

SYNDROMES

Duchenne muscular dystrophy

Benedict J.A. Lankestera, Michael R. Whitehouseb, Martin F. Garganc,!
a

Specialist Registrar in Trauma and Orthopaedics, Avon Orthopaedic Centre, Southmead Hospital,
Westbury-on-Trym, Bristol BS10 5NB, UK
b
SHO in Trauma and Orthopaedics, Bristol Royal Infirmary, Bristol BS2 8HW, UK
c
Consultant in Trauma and Orthopaedics, Bristol Royal Infirmary and Bristol Hospital for Sick Children, Bristol BS2 8HW, UK

Introduction

Clinical presentation and diagnosis

In 1868, Guillaume Duchenne (18061875), working in Paris,

described a pseudohypertrophic paralysis y which deceives and deludes by giving the limbs the appearance of
great muscularity.1 Duchenne muscular dystrophy (DMD) is
the most common childhood neuromuscular disorder, was
the first muscular dystrophy described, is incurable at
present and is invariably fatal. The disease involves a
progressive degeneration of skeletal muscle without associated abnormality in the central or peripheral nervous
system.2

Affected boys are normal at birth and early motor milestones may be appropriate (head control, sitting, etc.).
Independent ambulation is usually delayed, with tiptoe
walking and delayed speech. Steady progression results in a
waddling gait with frequent stumbling and tripping, difficulty standing up and problems with stair climbing.
Proximal muscle weakness precedes distal. Early involvement of the gluteal musculature results in Gowers sign
(when rising from the floor, the child walks his hands up
his thighs due to weakness of hip extension, although widely
described as pathognomonic for DMD, this sign can also be
present in the early stages of discitis).3 Relative sparing of
tibialis posterior function causes tiptoe walking and equinovarus deformity (Fig. 1). Another classic feature is calf
pseudohypertrophy due to fibro-fatty infiltration, giving a
firm rubbery feel on palpation.
By the age of 7, walking becomes increasingly difficult.
The knee is hyperextended and the torso tilted back in an
attempt to lock out the hip and knee joints. The ability to
walk is lost on average at 9 years of age (range 612), after
which the patient becomes wheelchair bound and may
develop severe flexion contractures. Scoliosis affects 90%,
with progressive collapse into a C shape, and severe pelvic
obliquity leading to loss of sitting balance. Painful hip
dislocation may occur. Most die in their early 20s from
cardio-respiratory failure.
The lack of dystrophin in the cell membrane leads to the
release of creatine kinase (CK) from myocytes, allowing the
diagnosis to be made by markedly increased serum CK levels
(100 ! normal) before symptoms and signs develop. Carrier

Epidemiology and genetics

DMD has an incidence of 23 per 100,000, or 1 in 3500 boys.
It is an X-linked recessive disorder, and can therefore
present in XO females (Turners syndrome). The incidence is
reducing due to genetic counselling, but 30% of cases involve
spontaneous mutations. The gene involved was first mapped
in 1987 and is located on the short arm of the X chromosome
(Xp21). It codes for dystrophin, a 400 kDa membrane protein
involved in membrane stability. Many different mutations
and deletions have been described, causing varying phenotypic severity.
!Corresponding author. Tel.: +44 0117 923 2121;

fax: +44 0117 928 2659.

E-mail addresses: jblankester@aol.com (B.J.A. Lankester),
mike_whitehouse@yahoo.com (M.R. Whitehouse),
martin.gargan@ubht.swest.nhs.uk (M.F. Gargan).
0268-0890/$ - see front matter & 2007 Elsevier Ltd. All rights reserved.
doi:10.1016/j.cuor.2007.07.001

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Duchenne muscular dystrophy

299

females, although asymptomatic, will also have CK levels

75% greater than normal. Electromyography will demonstrate myopathic signs (short duration action potentials and
polyphasic units) and muscle biopsy shows absence of

dystrophin on staining. Genetic testing is available for

confirmation in the affected boy, carrier mother or foetus.
The pattern of physical findings should allow a clinical
diagnosis to be made from the age of 3 years onwards, but it
is often missed at first presentation, leading to the potential
for further affected pregnancies in uninformed families.
A serum CK estimation should be carried out on any boy with
a clumsy or abnormal gait or with an unexplained equinus
deformity.4 The only way reliably to reduce the age of
diagnosis would be to introduce a newborn screening
programme,5 but there are no plans for this in the UK.
The less common but milder Becker muscular dystrophy,
which involves a different type of mutation in the same gene,
causes structurally abnormal dystrophin to be produced.
There is a later age of onset and slower progression.

Treatment
General
Figure 1 Equino-varus foot deformity.

Figure 2

Currently, no curative treatment is available for DMD.

Affected boys should be kept ambulatory or standing for as

Scoliosis pre and post operatively.

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300
long as possible. Regular stretching and strengthening
exercises, night-time splinting, ground-reaction AFOs and a
standing frame may all be useful. Corticosteroids (prednisolone and deflazacort) have been shown to delay the loss of
muscle strength and function by up to 3 years2 and delay or
prevent the onset of scoliosis,6 but have serious potential
side effects including weight gain and Cushings syndrome.

Lower limbs
Serial hip radiographs are used to screen for subluxation.7
Flexion and abduction contractures of the hip may require percutaneous release. Equinovarus foot deformity is
treated with tendo achillis lengthening and tibialis posterior transfer which prolongs the ability to walk.8 Surgical
release of soft tissue knee contractures is less effective.
Aggressive post-operative rehabilitation is needed to preserve overall function, with an avoidance of prolonged
immobilisation.

Spine
The spinal deformity is not amenable to non-surgical
control.2 Early fusion with segmental instrumentation
improves the Cobb angle, delays the deterioration in lung
function and improves survival (Fig. 2).9,10 Timing is crucial,
with a narrow window of opportunity after the curve starts
to develop, but before respiratory and cardiac function are
compromised to the point that the risk of surgery is too
great.2 An FVC less than 30% of the predicted value does not
necessarily preclude surgery.11
A long thoraco-lumbar fusion is performed. In boys with
significant shoulder weakness, any kyphosis should be only
partially corrected to avoid the loss of ability to raise the
hand to the mouth. Blood loss12 and overall complications13
are higher than for idiopathic scoliosis correction. The vital
capacity at the age of 10 is a good predictor of the speed of
progression14 and is useful in identifying those that require
early surgical intervention.

Gene therapy
Although the gene defect responsible for DMD was identified
nearly 20 years ago, the development of effective therapy
has been slow. The large size of the dystrophin gene makes
transfer difficult by the standard vector systems, necessitating the development of novel approaches. A minigene has
been successfully transferred in a mouse model of DMD, with
restoration of normal muscle function.15 Other attempts are
being made to target the downstream effects of DMD, such
as the implantation of myoblasts into dystrophic muscle to
repair a proportion of damaged myofibrils.16 Together these
advances in molecular biology suggest a cure for DMD may
be available in the near future.

B.J.A. Lankester et al.

Acknowledgements
The authors would like to thank Simon Gatehouse and Mike
Gibson, Newcastle General Hospital, for providing the
figures.

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