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Duchenne muscular dystrophy

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

This affliction affects one in 4000 males, making it the


most prevalent of muscular dystrophies. In general, only
males are affected, though females can be carriers.

Females may be afflicted if the father is afflicted and the


mother is also a carrier/ affected. The disorder is caused
by a mutation in the dystrophin gene, located in humans
on the X chromosome (Xp21).

The dystrophin gene codes for the protein dystrophin, an


important structural component within muscle tissue.

Dystrophin provides structural stability to the


dystroglycan complex (DGC), located on the cell
membrane.

Symptoms usually appear in male children before age 5


and may be visible in early infancy. Progressive proximal
muscle weakness of the legs and pelvis associated with
a loss of muscle mass is observed first.

Eventually this weakness spreads to the arms, neck, and


other areas. Early signs may include pseudohypertrophy
(enlargement of calf and deltoid muscles), low
endurance, and difficulties in standing unaided or
inability to ascend staircases.

As the condition progresses, muscle tissue experiences


wasting and is eventually replaced by fat and fibrotic
tissue (fibrosis).

By age 10, braces may be required to aid in walking but


most patients are wheelchair dependent by age 12.
Later symptoms may include abnormal bone
development that lead to skeletal deformities, including
curvature of the spine.

Due to progressive deterioration of muscle, loss of


movement occurs, eventually leading to paralysis.
Intellectual impairment may or may not be present but if
present, does not progressively worsen as the child
ages.

The average life expectancy for patients afflicted with


DMD varies from late teens to early to mid 20s. There
have been reports of a few DMD patients surviving to the
age of 40, but this is extremely rare.

Dystrophin is responsible for connecting the cytoskeleton


of each muscle fiber to the underlying basal lamina
(extracellular matrix) through a protein complex
containing many subunits.

The absence of dystrophin permits excess calcium to


penetrate the sarcolemma (cell membrane).

Alterations in these signalling pathways cause water to


enter into the mitochondria which then burst. In skeletal
muscle dystrophy, mitochondrial dysfunction gives rise
to an amplification of stress-induced cytosolic calcium
signals and an amplification of stress-induced reactiveoxygen species (ROS) production.
Signs and tests:

Muscle wasting begins in the legs and pelvis, then


progresses to the muscles of the shoulders and
neck, followed by loss of arm muscles and
respiratory muscles.

Calf muscle enlargement (pseudohypertrophy) is


quite obvious. Cardiomyopathy(DCM) is common,
but the development of congestive heart failure or
arrhythmias (irregular heartbeats) is only
occasional.

A positive Gowers' sign reflects the more severe


impairment of the lower extremities muscles. The
child helps himself to get up with upper
extremities: first by rising to stand on his arms and
knees, and then "walking" his hands up his legs to
stand upright.

Affected children usually tire more easily and have


less overall strength than their peers.

Creatine kinase (CPK-MM) levels in the


bloodstream are extremely high.

An electromyography (EMG) shows that weakness


is caused by destruction of muscle tissue rather
than by damage to nerves.

Genetic testing can reveal genetic errors in the Xp21


gene.
Treatment:

There is no known cure for Duchenne muscular


dystrophy, although recent stem-cell research is
showing promising vectors that may replace
damaged muscle tissue. Treatment is generally
aimed at controlling the onset of symptoms to
maximize the quality of life, and include the
following:
Corticosteroids such as prednisolone and
deflazacort increase energy and strength and
defer severity of some symptoms.
Mild, non-jarring physical activity such as
swimming is encouraged. Inactivity (such as bed
rest) can worsen the muscle disease.
Physical therapy is helpful to maintain muscle
strength, flexibility, and function.
Orthopedic appliances (such as braces and
wheelchairs) may improve mobility and the
ability for self-care. Form-fitting removable leg
braces that hold the ankle in place during sleep
can defer the onset of contractures.

Becker's muscular dystrophy

also known as Benign pseudohypertrophic muscular


dystrophy

Becker's muscular dystrophy

X-linked recessive inherited disorder characterized by


slowly progressive muscle weakness of the legs and
pelvis.

It is a type of dystrophinopathy, which includes a


spectrum of muscle diseases in which there is
insufficient dystrophin produced in the muscle cells,
results in instability in the structure of muscle cell
membrane.

This is caused by mutations in the dystrophin gene,


which encodes the protein dystrophin.

Becker muscular dystrophy is related to Duchenne


muscular dystrophy in that both result from a mutation
in the dystrophin gene, but in Duchenne muscular
dystrophy no functional dystrophin is produced making
DMD much more severe than BMD.

The disorder is inherited with an X-linked recessive


inheritance pattern. The gene is located on the X
chromosome.

Since women have two X chromosomes, if one X


chromosome has the non-working gene, the second X
chromosome will have a working copy of the gene to
compensate. In these cases, some women have much
milder symptoms because of this ability to compensate.

Since men have an X and a Y chromosome and because


they don't have another X to compensate for the
defective gene, they will develop symptoms if they
inherit the non-working gene.

Becker muscular dystrophy occurs in approximately 3 to


6 in 100,000 male births, making it much less common
than Duchenne muscular dystrophy.

Symptoms usually appear in men at about ages 825,


but may sometimes begin later. Patients can lose the
ability to walk as early as age 15 in the very rare severe
form.
Symptoms:

Muscle weakness, slowly progressive (Difficulty


running, hopping, jumping; difficulty walking.
However, ability to walk may or may not continue
well into adulthood.

Frequent falls

Difficulty breathing

Skeletal deformities, chest and back (scoliosis)

Muscle deformities (contractions of heels, legs;


Pseudohypertrophy of calf muscles)

Fatigue

Heart disease, particularly dilated cardiomyopathy

People with this disorder typically experience


progressive muscle weakness of the leg and pelvis
muscles, which is associated with a loss of muscle mass
(wasting). Muscle weakness also occurs in the arms,
neck, and other areas, but not as noticeably severe as in
the lower half of the body.

Calf muscles initially enlarge during the ages of 5-15 (an


attempt by the body to compensate for loss of muscle
strength), but the enlarged muscle tissue is eventually
replaced by fat and connective tissue

(pseudohypertrophy) as the legs become less used (use


of wheelchair).
Muscle contractions, which may be painful, occur in the
legs and heels, causing inability to use the muscles
because of shortening of muscle fibers and fibrosis of
connective tissue. Bones may develop abnormally,
causing skeletal deformities of the chest and other
areas.
Cardiomyopathy (damage to the heart) does not occur
as commonly with this disorder as it does with
Duchenne's muscular dystrophy. Cognitive problems
may or may not accompany the disorder, but they are
not inevitable and do not worsen as the disorder
progresses.
There is no known cure for Becker muscular dystrophy.
Treatment is aimed at control of symptoms to maximize
the quality of life.

Activity is encouraged. Inactivity (such as bed rest) or


sitting down for too long on plane or car rides can
worsen the muscle disease. Physical therapy may be
helpful to maintain muscle strength. Orthopedic
appliances such as braces and wheelchairs may improve
mobility and self-care.
Immunosuppressant steroids like Prednisone have been
known to help slow the progression of Becker Muscular
Dystrophy.
Becker's muscular dystrophy results in slowly
progressive disability, and patients eventually use a
cane or wheelchair. Death can occur from age 40 but
some patients enjoy a nearly normal lifespan.