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Dystrophy
RUDY HANDOYO
REHABILITASI MEDIK
FK UNDIP/RS Dr KARIADI
Introduction
Muscular dystrophies are genetic disorders
characterized by progressive muscle wasting and
weakness that begin with microscopic changes in
the muscle.
As muscles degenerate over time, the person's
muscle strength declines, characterized by rapidly
progressive muscle weakness which starts in the
legs and pelvis and later affects the whole body.
Duchenne muscular dystrophy (DMD) was first
described by the French neurologist Guillaume
Benjamin Amand Duchenne in the 1860s.
Becker muscular dystrophy (BMD) is named after
the German doctor Peter Emil Becker, who first
described this variant of DMD in the 1950s.
Introduction
Although the disease is present from
conception, symptoms usually do not develop
until the child is five or six years old, or even a
year or two later.
By the early teens or even earlier, the boy's
heart and respiratory muscles may also be
affected.
In the late stages of muscular dystrophy, fat and
connective tissue often replace muscle fibers.
The most common muscular dystrophies appear
to be due to a genetic deficiency of the muscle
protein dystrophin.
There's no cure, but medications and therapy
can slow the course of the disease.
CAUSES
The defective gene that causes Duchenne's and
Becker's muscular dystrophies is located on the
X-chromosome.
Women who have the defective gene that causes
these muscular dystrophies are simply carriers
and exhibit no signs or symptoms of the disease.
The disease can "skip" a generation until another
son inherits the defective gene on the Xchromosome.
In some cases of Duchenne's and Becker's
muscular dystrophies, the disease arises from a
new mutation in a gene rather than from an
inherited defective gene.
CAUSES
Myotonic dystrophy is passed along in a pattern
called autosomal dominant inheritance.
If either parent carries the defective gene for
myotonic dystrophy, there's a 50 percent chance
the disorder will be passed along to a child.
Other types of muscular dystrophy can be
passed on from generation to generation and
affect males and females equally.
Still others require a defective gene from both
parents.
CAUSES
Dystrophin is localized to the
sarcolemmal membrane of the muscles
cells and the absence allows increased
permeability of the cell
Because several lytic enzymes within the
muscles cell are activated by calcium, it is
now hypothesized that necrosis may be
due to an uncontrolled rise of calcium
concentration in the cell thereby
activating proteolytic enzymes leading to
cell destruction
Type of muscular
dystrophy
Type of muscular
dystrophy
Type of muscular
dystrophy
Type of muscular
dystrophy
Type of muscular
dystrophy
Limb-girdle muscular
dystrophy:
Type of muscular
dystrophy
Facioscapulohumeral muscular dystrophy
Face
Shoulders
Abdomen
Feet
Upper arms
Pelvic area
Lower arms
Type of muscular
dystrophy
Type of muscular
dystrophy
Type of muscular
dystrophy
Type of muscular
dystrophy
Shoulders
Upper arms
Shins
Rapidly progressive
Frequent falls
Difficulty with motor skills (running, hopping, jumping)
Difficulty standing up
Difficulty climbing stairs
Difficulty descending stairs
Fatigue
Intellectual retardation/handicap (possible)
Skeletal deformities
Chest and back (scoliosis)
Hyperlordosis
To try to keep his balance.
Electromyography.
TREATMENT
There's currently no cure for any form
of muscular dystrophy. Treatment is
aimed at control of symptoms to
maximize the quality of life.
Current treatment is designed to
help prevent or reduce deformities
in the joints and the spine and to
allow people with MD to remain
mobile as long as possible.
TREATMENT
Activity is encouraged.
Inactivity (such as bed rest) can
worsen the muscle disease.
Regular (daily) physical therapy
sessions may be helpful to maintain
muscle strength and function.
TREATMENT
Assistive devices:
Braces or splints on the legs, particularly at night.
Braces extending from shoes to thighs to facilitate
standing and walking. The braces, fitted with
hinges at the knees, can be worn even while the
child is sitting. They are comfortable and
relatively light in weight.
A walker may be used in combination with the
braces to allow for independent mobility.
Wheelchair
Medication
Surgery
Physical Therapy
As muscular dystrophy progresses and muscles weaken,
contractures can develop in joints. Tendons can
shorten, restricting the flexibility and mobility of joints.
Contractures are uncomfortable and may affect the
joints of the hands, feet, elbows, knees and hips.
The primary goals of physical therapy are to allow
greater motion in the joints and to prevent contractures
and scoliosis.
Exercise can help build skeletal muscle, keep the
cardiovascular system healthy, and contribute to feeling
better. But in muscular dystrophy, too much
Physical Therapy
Some experts recommend swimming and
water exercises (aquatic therapy) as a good
way to keep muscles as toned as possible
without causing undue stress on them. The
buoyancy of the water helps protect
against certain kinds of muscle strain and
injury. Before undertaking any exercise
program, make sure a cardiac evaluation.
Using hot baths also can help maintain
range of motion in joints.
Occupational Therapy
Occupational therapy focuses more on
specific activities and functions, while
physical therapy emphasizes mobility
and, where possible, strengthening of
large muscle groups.
OT can help with tasks related to work,
recreation or daily living, such as
driving, dressing or using a computer.
ENVIRONMENTAL
ADAPTATIONS
Various types of environmental
adaptations may be necessary to
help the child remain independent in
daily activities, including raised
toilet seats, special desk tops, ramps
instead of steps, handrails, and
others.
MEDICATIONS
Steroids may have a significant benefit in DMD. The
best known of these drugs is prednisone; it's been
shown to slow the loss of muscle function or even to
increase strength in DMD. With these drugs, someone
with DMD may be able to walk and have stronger arms
and legs for several months or even a couple of years
longer than would have been possible without them.
But prednisone also has many potentially damaging
side effects, which can be severe over a prolonged
period. These include significant weight gain, loss of
bone and (paradoxically) muscle tissue, thinning of the
skin, raised blood pressure and blood sugar, and
serious psychological distress, including difficulty
thinking, sleeping and controlling behavior, and even
severe depression. Each of these side effects can
actually worsen the impact of muscular dystrophy.
MEDICATIONS
For myotonic dystrophy.
The medications phenytoin, quinine
and procainamide may be used to
treat the delayed muscle relaxation
that occurs in myotonic dystrophy.
SURGERY
To release the contractures that may
develop and that can position joints
in painful ways, it can be performed
a tendon release surgery.
This may be done to relieve tendons
of the hip, knee and Achilles tendon.
COMPLICATIONS
The Heart
By the teen years, the damage done by DMD to the
heart and the muscles involved in operating the
lungs can become life-threatening.
People with DMD and BMD often develop
cardiomyopathy because of a deficiency of
dystrophin. Myocardium of the heart deteriorates,
just as the skeletal muscles do, putting the person
at risk of fatal heart failure.
Major symptoms of cardiomyopathy are shortness
of breath, fluid in the lungs or swelling in the feet
and lower legs caused by fluid retention. The
effects can be diminished with a low-sodium diet,
mild exercise, mechanical ventilation or
medications.
Some people with BMD have mild skeletal muscle
involvement but severe cardiac problems. In BMD,
the heart should be checked regularly and treated
if necessary.
Respiratory
Function
Intellectual Effects
About a third of boys with DMD have
some degree of learning disability,
although few are seriously retarded.
Dystrophin abnormalities in the brain may
cause cognitive and behavioral deficits.
The learning problems seen in some
people with DMD and BMD occur in three
general areas: attention focusing, verbal
learning and memory, and emotional
interaction.
DIETS
PREVENTION
Genetic counseling is advised if
there is a family history of the
disorder. Duchenne muscular
dystrophy can be detected with
about 95% accuracy by genetic
studies performed during pregnancy.
PROGNOSIS
Duchenne muscular dystrophy
results in rapidly progressive
disability. Death usually occurs by
age 25, typically from respiratory
(lung) disorders.