NEUROLOGY PT.

HJS 2073
MUSCULAR
DYSTROPHY
BY: NURDINA AFINI BT IZAMUDIN
(031390)

introduction
Definition :

The muscular dystrophies (MD) are a group a

group of genetic diseases characterized by
progressive weakness and degeneration of the
skeletal or voluntary muscles which control
movement. The muscles of the heart and some
other involuntary muscles are also affected in
some forms of muscular dystrophy, and a few
forms involve other organs as well.

aetiology
Caused by a mutation of a gene located on the X
chromosome, predominantly affect males, although
females can sometimes have severe symptoms as
well.
Hundreds of genes are involved in making proteins
that protect muscle fibers from damage.
Muscular dystrophy occurs when one of these genes
In affected muscle
is defective.
(right) the tissue
Each form of muscular dystrophy is caused by abecomes
and
genetic mutation that's particular to that type ofdisorganized
the
the concentration
disease.
Many of these mutations are inherited, but someof
dystrophin(green)
occur spontaneously in the mother's ovum or the is greatly reduced,
developing
embryo.
compared to
normal muscle
(left).

pathology
TYPES :

Duchennemuscular dystrophy(DMD):
1. The most common type of the disease.
2. caused by a problem with the
gene that makes a protein calleddystrophin.
3.This protein helps
muscle cells keep their shape and strength.
4.Without it,
muscles break down and a person gradually becomes weaker.
5.DMD affects boys.
6.Symptoms usually start between ages 2 and 6.
7.By age 10 or 12, kids with DMD
often need to use a wheelchair.
8.The heart may also
be affected, and people with DMD need to be followed closely by a
lung and heart specialist.
9.It can also developscoliosis(curvature of the spine) and tightness
in their joints.
10.Over time, even the muscles that control
breathing get weaker, and a person might need a ventilator to

Becker muscular dystrophy (BMD),

1.Like DMD affects boys.
2.The disease is very similar to DMD,
but its symptoms may start later and can be less severe.
3.With BMD,
symptoms like muscle breakdown and weakness sometimes
don't begin until age 10 or even in adulthood.
4.People with BMD can also have breathing, heart, bone,
muscle, and joint problems.
5.Many people with BMD can live
long, active lives without using a wheelchair.
Emery-Dreifuss muscular dystrophy (EDMD)
1.symptoms in
late childhood to early teens and sometimes as late as age 25.
2.EDMD is another form of muscular dystrophy that
affects mostly boys. 3.It involves muscles in the shoulders,
upper arms, and shins, and it often causes joint problems
(joints can become tighter in people with EDMD). 4.The heart
muscle may also be affected.

Limb-girdle muscular dystrophy(LGMD)

1. Affects boys and girls equally
2. Weakening muscles in the shoulders and upper arms and
around the hips and thighs.
3. LGMD can begin as early as childhood or as late as midadulthood, and it often progresses slowly.
4. Over time, a wheelchair might be necessary to get around.
5. There are many different types of LGMD, each with its own
specific features.
Facioscapulohumeral muscular dystrophy (FSHD)
1.Can affect both guys and girls.
2. It usually begins during the teens or early adulthood.
3. FSHD affects muscles in the face and shoulders and
sometimes causes weakness in the lower legs.
4. People with this type of MD might have trouble raising their
arms, whistling, or tightly closing their eyes.
5. How much a person with this form of muscular dystrophy is
affected by the condition varies from person to person.
6. It can be quite mild in some people.

Myotonicdystrophy (MMD)
1. Is a form of muscular dystrophy in which the muscles
have difficulty relaxing.
2. In teens, it can cause a number of problems, including
muscle weakness and wasting (where the muscles shrink
over time), cataracts, and heart problems.

Congenital muscular dystrophy (CMD)

1.Is the term for all types of MD that show signs in babies
and young children, although the MD isn't always
diagnosed right away.
2.Like other forms of MD, CMD involves muscle weakness
and poor muscle tone.
3.Occurring in both girls and boys, it can have different
symptoms. 4.It varies in how severely it affects people and
how quickly or slowly it worsens.
5.In rare cases, CMD can cause learning or intellectual
disabilities.

Oculopharyngeal muscular dystrophy:

1. Age at onset: 40 to 70 years
2. Symptoms affect muscles of eyelids, face, and throat
followed by pelvic and shoulder muscle weakness, has
been attributed to a short repeat expansion in
thegenomewhich regulates the translation of some
genes into functional proteins.

sign and
symptoms

gower sign

gower sign

symptoms
Duchenne muscular dystrophy
1.Signs and symptoms typically first surface when the
child begins to walk and may include:
-Frequent falls
-Difficulty getting up from a lying or sitting position
-Trouble running and jumping
-Waddling gait
-Large calf muscles
-Learning disabilities
Becker muscular dystrophy
1.This variety has signs and symptoms similar to
Duchenne muscular dystrophy
2. But they typically are milder and progress more slowly.
3.Symptom onset is generally in the teens but may not
occur until the mid-20s or even later.

Myotonic.
1.Also known as Steinert's disease
2. This form of muscular dystrophy also features an inability to
relax muscles at will.
3. It most often begins in early adulthood. Muscles of the face
are usually the first to be affected.
Limb-girdle.
1.The hip and shoulder muscles are usually the first affected in
this type of muscular dystrophy.
2.In some cases, it becomes difficult to lift the front part of the
foot, so frequent tripping may occur.
3.Signs and symptoms may begin from early childhood to
adulthood.
Congenital.
1.This category of muscular dystrophy is apparent at birth or
becomes evident before age 2.
2.Some forms progress slowly and cause only mild disability,
while others progress rapidly and cause severe impairment.

Fascioscapulohumeral (FSHD).
1.One of the most striking signs of this variety of muscular
dystrophy is that the shoulder blades might stick out like wings
when the person raises his or her arms.
2. Onset usually occurs in teens or young adults.
Oculopharyngeal.
1.The first sign of this type of muscular dystrophy is usually
drooping of the eyelids.
2. Weakness of the muscles of the eye, face and throat often
results in swallowing difficulties.
3.Signs and symptoms first appear in adulthood, usually in a
person's 40s or 50s.

risk factor
Muscular dystrophy occurs in both
sexes and in all ages and races, but the
most common variety usually occurs in
young boys. People who have a family
history of muscular dystrophy are at
higher risk of developing the disease or
passing it on to their children.

complication
Some types of muscular dystrophy shorten the person's
lifespan, often by affecting the muscles associated with
breathing.
Even with improved mechanical breathing assistance,
people who have Duchenne muscular dystrophy the most
common type of muscular dystrophy usually die of
respiratory failure before they reach age 40.
Many types of muscular dystrophy can also reduce the
efficiency of the heart muscle. If the muscles involved with
swallowing are affected, nutritional problems may develop.
As muscle weakness progresses, mobility becomes a
problem. Many people who have muscular dystrophy will
eventually need to use a wheelchair. However, the
prolonged immobility of joints associated with wheelchair
use can worsen contractures, in which the limbs draw inward
and become fixed in that position.
Contractures may also play a part in the development of
scoliosis, a sideways curvature of the spine that further

Dr. mx
TEST AND DIAGNOSIS:
Enzyme tests.Damaged muscles release enzymes, such as
creatine kinase (CK), into blood. In the absence of traumatic
injuries, high blood levels of CK suggest a muscle disease
such as muscular dystrophy.
Electromyography.This test involves inserting an
electrode needle through skin and into the muscle to be
tested. Electrical activity is measured as pt. relax and as
gently tighten the muscle. Changes in the pattern of electrical
activity can confirm a muscle disease.
Muscle biopsy.A small piece of muscle can be removed
through a small incision or with a hollow needle. The analysis
of the sample can distinguish muscular dystrophies from other
muscle diseases.
Genetic testing.Blood samples can be examined for

TREATMENT:
Medications
Corticosteroids, such as prednisone, may
help improve muscle strength and delay
the progression of certain types of
muscular dystrophy. But prolonged use of
these types of drugs can weaken bones
and increase fracture risk.

Therapy
Several different types of therapy and assistive devices can
improve quality and sometimes length of life in people who
have muscular dystrophy. Examples include:
-Range-of-motion exercises.Muscular dystrophy can
restrict the flexibility and mobility of joints. Limbs often draw
inward and become fixed in that position. One goal of
physical therapy is to provide regular range-of-motion
exercises to keep joints as flexible as possible.
-Mobility aids.Braces can provide support for weakened
muscles and help keep muscles and tendons stretched and
flexible, slowing the progression of contractures. Other
devices such as canes, walkers and wheelchairs can
helfp maintain mobility and independence.
-Breathing assistance.As respiratory muscles weaken, a
sleep apnea device may help improve oxygen delivery during
the night. Some people with severe muscular dystrophy may
need to rely on a ventilator a machine that forces air in and

Surgical and other procedures

Surgical remedies are an option for several of the
problems common to muscular dystrophy, such as:
-Contractures.Tendon surgery can loosen joints
drawn inward by contractures.
Scoliosis.Surgery may also be needed to correct a
sideways curvature of the spine that can make
breathing more difficult.
-Heart problems.Some people who have heart
problems related to muscular dystrophy may be
helped by the insertion of a pacemaker, which
prompts the heart to beat more regularly.

PT. MX

1. Range of motion exercise

2.Stretch for the ankles
3. Stretch for the knees
4a. Stretch for the hips
4b. Stretch for the hips
4c. Stretch for the hips
5a. Iliotibial stretch
5b. Iliotibial stretch
6a. Stretch for the elbows
6b. Stretch for the elbow and wrist
7a. Stretch for the wrist, elbow and fingers
7b. Stretch for the wrist, elbow and fingers
8. Self-stretch for the calf
9a. Self-stretch for the knees
9b. Self-stretch for the knees
10. Deep breathing exs.
11a. Postural drainage
11b. Postural drainage for older children
12. Assisted coughing

PT. MX

13.Posture correction

14. Positioning
The prone lying position (face downwards) is good for resting.
It can also
help prevent contractures developing in the hips and
knees.Place a
small pillow or wedge just below the hips (which should be
level and the
pelvis down) to encourage hip extension. The weight of the
lower leg
will straighten out the knees but it is important that the feet
are free.
Discourage asymmetrical positions as these reinforce
development of

references
http://www.wikihow.com/TreatMuscular-Dystrophy-With-PhysicalTherapy
http://www.medicalnewstoday.com/ar
ticles/187618.php
http://www.mayoclinic.org/
http://kidshealth.org/teen/diseases_c
onditions/bones/muscular_dystrophy.h
tml
http://www.muscular-dystrophy.org/