Transcript Communication Project 2

 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
 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
 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.
 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
 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.
 Duchenne MD
 Signs and symptoms typically first surface when the child
begins to walk and may include:
 Difficulty getting up from laying or
/sitting position
 Scoliosis
 Trouble running and jumping
 Experience tight joints  Large calf muscles
 Learning disabilities
 Breathing problems
 Heart problems
 Frequent falls
 Becker Muscular Dystrophy
 Similar to Duchenne Muscular Dystrophy
 Unlike DMD symptoms may start later and are less sever
 Muscle breakdown doesn’t 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!
 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.
 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
 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
 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
 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
 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
 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.
 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
 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.
 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.
 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.
 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.ninds.nih.gov/disorders/md/md.htm
 http://www.webmd.com/children/understanding-muscular-dystrophy-
basics