Transcript of Muscular dystrophy (MD) is a genetic disorder that weakens the muscles of the body People with MD...
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- Muscular dystrophy (MD) is a genetic disorder that weakens the
muscles of the body People with MD have incorrect /missing
information in their genes which prevents them from making the
proteins they need for healthy muscles MD is genetic it's not
contagious and you can't catch it from someone who has it
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- MD weakens muscles over time Gradually they lose the ability to
do the things most take for granted walking or sitting up Some
start having muscle problems as a baby or later in life Some even
develop MD as adults
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- Hundreds of genes are involved in making proteins that protect
muscle fibers from damage MD occurs when one of these genes is
defective Many mutations are inherited Some occur randomly in the
mother's egg or embryo Each form of MD is caused by a mutation
that's particular to that type of the disease.
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- Progressive muscle weakness is the main feature of MD. Each
separate form of MD varies a bit in terms of age at which the signs
and symptoms usually begin the sequence in which different muscle
groups are affected
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- Duchenne Muscular Dystrophy Most common type of MD about half
of all cases Caused by a problem with the gene that makes protein
(dystrophin) The protein helps muscle cells keep their strength and
shape Most commonly occurs in boys Symptoms usual start between
ages 2 and 6 By 10 or 12 kids with DMD often need to use a
wheelchair.
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- Duchenne MD Signs and symptoms typically first surface when the
child begins to walk and may include: Heart problems Scoliosis
Experience tight joints Breathing problems Frequent falls
Difficulty getting up from laying or /sitting position Trouble
running and jumping Large calf muscles Learning disabilities
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- Becker Muscular Dystrophy Similar to Duchenne Muscular
Dystrophy Unlike DMD symptoms may start later and are less sever
Muscle breakdown doesnt begin until age 10 or older Can have
breathing, heart, bone, muscle, and joint problems BMD patients can
live long active lives without using a wheelchair!
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- Myotonic Myotonic Also known as Steinert's disease Muscles have
difficulty relaxing In teens it can cause a number of problems
including Muscle weakness and wasting (shrink over time) cataracts,
and heart problems.
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- Fascioscapulohumeral (FSHD ) Begins in teens or young adults
and can affect boys and girls Affects muscles in the face and
shoulders and sometimes a weakness in lower legs trouble raising
their arms, whistling, or squeezing their eyes shut The most
striking signs is that the shoulder blades might stick out like
wings
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- Limb-girdle LGMD can begin as early as childhood or as late as
mid-adulthood Progresses slowly Affects boys and girls equally
Weakening muscles in the shoulders, upper arms, and around hips and
thighs The hip and shoulder muscles are usually the first affected
A wheelchair might be necessary to get around
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- Congenital Congenital is the term for all types of MD that show
signs in babies and young children Occurs in girls and boys but can
have different symptoms. CMD involves muscle weakness and poor
muscle tone If it progresses slowly only causes mild disability If
it progress rapidly it causes severe impairment Can cause learning
disabilities
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- Emery-Dreifuss muscular dystrophy (EDMD) Usually starts causing
symptoms in late childhood to early teens and sometimes as late as
age 25 Affects mostly boys It involves muscles in the Shoulders
upper arms And shins Causes joint problems Heart muscles may be
affected
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- In addition to a medical history review and physical
examination Enzyme tests Damaged muscles release specific enzymes
into your blood Without traumatic injuries high levels of the
enzymes suggest a muscle disease Electromyography This test
involves inserting an electrode needle into the muscle Electrical
activity is measured as you relax and as you gently tighten the
muscle Changes in the pattern of electrical activity can confirm a
muscle disease
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- 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 mutations in some
of the genes that cause different types of muscular dystrophy.
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- There is no cure for MD but doctors and scientists are working
hard to find one Some scientists are trying to fix the defective
genes that lead to MD so they will make the right proteins. Others
are trying to make chemicals that will act like these proteins in
the body. Doctors trying to finding the best ways to treat the
symptoms of MD so that kids, teens, and adults can live with the
disease
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- Medications Corticosteroids, such as prednisone help improve
muscle strength and delay the progression of certain types of
muscular dystrophy Prolonged use of these types of drugs can weaken
bones and increase fracture risk.
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- Some teens with MD need respiratory aids, such as a ventilator,
to help them breathe Teens with MD also might need to be treated
for problems like scoliosis caused by weakened muscles or muscles
that are contracting or pulling too tightly.
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- Teens with MD can do some things to help their muscles. Certain
exercises with a occupational therapist can help them avoid
contractures A stiffening of the muscles near the joints that can
make it harder to move and can lock the joints in painful
positions. Teens are fitted with special braces to help keep joints
and tendons flexible. Surgery is sometimes used to reduce pain and
increase movement from contractures.
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http://kidshealth.org/teen/diseases_conditions/bones/muscular_dystroph
y.html#
http://kidshealth.org/teen/diseases_conditions/bones/muscular_dystroph
y.html# http://www.mayoclinic.org/diseases-conditions/muscular-
dystrophy/basics/definition/con-20021240
http://www.mayoclinic.org/diseases-conditions/muscular-
dystrophy/basics/definition/con-20021240
http://www.ninds.nih.gov/disorders/md/md.htm
http://www.ninds.nih.gov/disorders/md/md.htm
http://www.webmd.com/children/understanding-muscular-dystrophy-
basics
http://www.webmd.com/children/understanding-muscular-dystrophy-
basics