DUCHENE MUSCULAR DYSTROPHY

Dr. ASHARI BAHAR, M.Kes, Sp.S, FINS

DEPARTMENT OF NEUROLOGY
FACULTY OF MEDICINE
UNIVERSITY OF HASANUDDIN
Definition
• A myopathy is a disorders of sceletal muscle due
to disease of the muscle fiber itself.
• The muscular dystrophies are genetically
determined myopathies characterized by
progressive muscular weakness and
degeneration of muscle fibers.
• The muscular dystrophies are classified
according to clinical features.
 Muscular
Dystrophy

Dystrophinopathies

Duchene Muscular Becker Muscular

Disease Disease

- Datang usia <6 tahun - Datang usia 10-20

- Life span <13 tahun tahun

ALLELIC DISORDER
NO DYSTROPHIN MISSHAPEN
DYSTROPHIN GEN
- Non sense DYSTROPHIN
MUTATION
mutation - Miss sense mutation
- Frame Shift
mutation
Cytogenetic Location:
• The DMD gene is located on
the short (p) arm of the X
chromosome at position 21.2.
• More precisely, the DMD gene
is located from base pair
31,137,344 to base pair
33,357,725 on the X
chromosome.
Normal
DMD
 Description Histopathology of gastrocnemius muscle from patient who died of
pseudohypertrophic muscular dystrophy, Duchenne type.
Cross section of muscle shows extensive replacement of muscle fibers by adipose cells.
Clinical Features
• Musculosceletal
▫ Children  normal at birth & may be extremely
placid.
▫ There is normal achievement of early milestones,
but there is delay in standing & walking.
▫ The child  clumsy, WADDLING GAIT, &
pseudohypertrophy of the calf muscles, associated
with difficulty climbing stairs & rising from a chair
▫ Older children have a pronounced lumbar lordosis
caused by weakness of the pelvic musculature and
the erector spinae.
Gower’s sign
▫ Eventually the child can no longer ambulate & becomes confined
to wheelchair by the age of 10.
▫ Multiple contractures, deformities and severe scoliosis, and distal
weakness and wasting are prominent features in the latter stages
of the disease.
▫ Tipycally, the patient is bedridden in the teens and dies in the late
teens or early twenties.
• Cardiac
▫ The absence of dystrophin in cardiac muscle
results in a primary progressive cardiac dystrophic
process.
▫ There is s steady decline in cardiac reserve, but
heart failure is rare, probably because the patient
leads a sedentary life-style.
• Gastrointestinal
▫ Many develop gastrointestinal hypomotility
because dystrophin is absent in smooth muscle.
▫ Acute gastric dilatation or fatal intestinal
obstruction may occur in advanced cases.
• Brain
▫ Absence of dystrophin in the brain results in mild
impairment of intellectual-cognitive functioning
in a subset of patients with DMD.
▫ Lack of dystrophin increases susceptibility to
neuronal damage, suggesting that mental
impairment may be result of ischemic insults
during fetal life or parturition.
Diagnostic Procedures
1. Muscle enzymes
 Creatinne kinase (CK)
 Aspartat transaminase (AST)
 Alanine transaminase (ALT)
 Lactic dehydrogenase (LDH)
 Aldolase
 Creatinuria
 Myoglubinuria
2. The Electrocardiogram  Abnormal at an early
age
 Tachycardia  increased R-wave voltage &
development of RBB and deep Q waves
3. The Electromyogram  Abnormal + myopathix
features
 Motor unit potentials 
1. Reduced in duration & amplitudo
2. Increased polyphasic wave activity
3. Early recruitment
4. Between 2,5-10% of female carriers of mutated
dystrophin gene  muscle weakness
5. In asymptomatic carriers  mutation detection
can be performed on lymphocitic genomic DNA
6. Muscle biopsy was the definitive method of
diagnosis before the development of genetic
diagnostic techniques
Differential Diagnosis
1. Other forms of dystrophy
2. Neurogenic muscular atrophy
3. Polymyositis and dermatomyositis, which are
ccharacterized by inflamatory changes on
muscle biopsy
4. Polyneuropathy differentiated by its more rapid
onset slow nerve conduction velocities and
muscle and nerve biopsy
5. Benign congenital myopathies
Treatment
1. There is no spesific treatment
2. A physical therapy program will
help to delay the development of
joint contractures.
Obesity should be avoided.
Splinting, bracing, and surgical
procedures to prevent or treat
deformities can prolong the ability
to walk.
3. Joint contractures can be relieved
by tendon release procedures.
4. Severe scoliosis can be stabilized
or reversed by orthopedic
surgical techniques
5. Mild upper respiratory infections
are potentially lethal in advanced
disease and shoul be treated with
appropriate antibiotics
6. A lessening of the emotional
impact of the disease on the
patient and family, and the
development of optimal living
conditions  Neurologist,
physiatrist, phsycologist, & social
worker.
7. Corticosteroid decrease the rate of muscle loss.
Prednisone 0,75/kg daily can be given for as
long as 6 months
8. Newer techniques of gene therapy using
myoblast transplantation or gene transfer
9. Genetic counseling
Prognosis

• DMD is steadily progressive, incapacitating

disease until death in the late teens or early
twenties.
• A better understanding of pulmonary problems
and improved treatment of respiratory
infections has significantly increased the life
span in DMD and other muscle diseases
affecting muscle function.