DUCHENNE MUSCULAR DYSTROPHY

Introduction
 Duchenne muscular dystrophy (DMD) is a
severe recessive X-linked form of muscular
dystrophy
 characterized by rapid progression of
muscle degeneration, eventually leading to
loss of ambulation and death
 muscle tissue experiences wasting and is
eventually replaced by fat and fibrotic tissue
(fibrosis)
 Introduction

 It's caused by mutations in the DMD gene

 affects mostly males at a rate of 1 in 3,500
births
 The mean age at diagnosis was 4.6 years;
 Braces to aid walking at a median age 10
years
 wheelchair dependency had a median age of
12 years;
 death occurred at a median age of 17 years.
Introduction

 Higher risk of neurobehavioral disorders (e.g.,

ADHD), learning disorders (dyslexia), and
non-progressive weaknesses in specific
cognitive skills (in particular short-term
verbal memory) which are believed to be the
result of absent or dysfunctional dystrophin
in the brain
 Genetic
 Any mother who is a carrier for muscular dystrophy will
have a 50:50 chance giving birth to a son with muscular
dystrophy and a 50:50 chance of giving birth to a daughter
who is a carrier.
Genetic
DMD is a recessive x-linked
disorder caused by a
mutation in the gene at locus
Xp21 that codes for the
muscle protein dystrophin.
 History taking
 muscle weakness associated with muscle
wasting with the voluntary muscles being first
affected, especially affecting the muscles of the
lower limb
 History of brother with the DMD
 low endurance, and difficulties in standing unaided
or inability to ascend staircases
 Difficulty of learning / cognitive disorder
History taking

 Frequent falls
 Fatigue
 Difficulty with motor skills (running, hopping,
jumping)
 Physical Examination
 Difficulty getting up from a lying or sitting position (Gower
sign)
 Weakness in lower leg muscles
 Waddling gait
 Mild mental retardation, in some cases
 skeletal deformities, including curvature of the spine (lumbar
lordosis)
 pseudohypertrophy (enlargement of calf and deltoid
muscles)
 Cardiomyopathy (DCM) is common, but the
development of congestive heart
failure or arrhythmias (irregular heartbeats) is only
occasional
Gower sign
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 DMD DIAGNOSIS

 Creatine kinase (CPK-MM) levels in the bloodstream are

extremely high, raised AST, ALT, LDH, aldolase
 An electromyography (EMG) shows that weakness is
caused by destruction of muscle tissue rather than by
damage to nerves (polyfasic waves)
 Genetic testing can reveal genetic errors in the Xp21
gene.
 A muscle biopsy or genetic test (blood test) confirms the
absence of dystrophin, although improvements in
genetic testing often make this unnecessary
 Abnormal ECG
 DMD DIAGNOSIS -
MUSCLE BIOPSY

Dystrophin
antibody
staining of
muscle cells

Normal Control 4 year old boy with DMD – No

detectable dystrophin
Duchenne muscular dystrophy

DD;
1. Other distrophies
2. Neurogenic musc distrophy
3. Poliomyositis
4. Polineuropathy
5. Benign congenital myopathy

mac,dr 8/18/2019 14
TREATMENTS FOR DMD
• To improve breathing:
o O2 therapy
o Ventilator
o Scoliosis surgery
o Tracheotomy
• To improve mobility:
o Physical therapy
o Surgery on tight joints
o Splinting (orthoses)
o Non-steroidal medications
o Wheelchair
Treatments

 Occupational and physical therapy

 corticosteroid (prednisone 0.75
mg/kgbw/day) can be given for 6 mo
 increase energy and strength and defer
severity of some symptoms
 Prognosis
 The life expectancy is currently estimated to be
around 25, but this varies from patient to
patient.
Duchene musculer dystrophy

Terapi:
1. Tidak ada terapi spesifik
2. Fisioterapi
3. Kortikosteroid (prednison 0.75 mg/kgBB/hr)
dapat diberikan selama 6 bulan
4. Genetik konseling

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