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For the parent’s of kids with

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1 For the parent’s of kids with
Muscular Dystrophy Marissa Miuccio

2 What Is Muscular Dystrophy?
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

3 WHAT IS MUSCULAR DYSTROPHY
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

4 Causes 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.

5 Symptoms 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

6 varieties 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.

7 varieties 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

8 Varieties 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!

9 varieties 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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11 Varieties 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

12 varieties 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

13 varieties 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

14 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

15 Testing and diagnosis 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

16 Testing and Diagnosis Muscle biopsy Genetic testing
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.

17 Treatments 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

18 Treatments 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.

19 Treatments 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.

20 Treatments 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.

21 References y.html# dystrophy/basics/definition/con basics


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