Duchenne Muscular Dystrophy Michaela ShafferPeriods 1 and 2Genetic Disorders

Definethe most common of several childhood muscular dystrophies, it is an inherited disorder (X-linked recessive) with progressive degeneration of muscle, onset is generally before age 6 years

People with DMD lose muscle all there lives, but it is

usually not noticed until a

parent or caretaker finds

unusual walking and/or talking around the age of 3

Incidence RatesAlthough girls rarely get this disease, females can still have some

of the symptoms like weaker muscles in the back, legs and arms that fatigue easily. Some may need a wheelchair or other

mobility aids. Carriers may have heart problems, and can have shortness of breath or failure to do

moderate exercise. The heart problems, if untreated, can be quite serious, even life-threatening

*About 1 in every 3,500 boys is born with DMD*

The figure shown above is the pictorial representation of the incidence of DMD.

The figure shown below is the pictorial representation of the incidence of DMD in boys.

DMD is caused by a mutation in the gene that produces an important muscle protein called dystrophin, which is not produced

The Muscle-Fiber Membrane

Muscles are made up of bundles of fibers (cells). A group of interdependent

proteins along the membrane surrounding each fiber helps to keep muscle cells working properly. When one of these

proteins, dystrophin, is absent, the result is Duchenne muscular

dystrophy.

Cause

How boys are affected

How girls are affected

Alternative Names

Symptoms

Early

o Delayed Onset Walking

o Difficulty in performing a standing jump

o Waddling when walking

o Difficulty standing up

o Enlarged Calves

Later

oDifficulty getting up from a chair

oLoss of ability to climb stairs

oWide gaited walk w/ balance problems

More Symptoms• Fatigue• Mental retardation (possible, but does not worsen over

time) • Muscle weakness ▫ Begins in legs and pelvis, also occurs less severely in the

arms, neck, and other areas of the body ▫ Difficulty with motor skills (running, hopping, jumping) ▫ Frequent falls ▫ Rapidly worsening weakness

• Progressive difficulty walking. Ability to walk may be lost by age 12

• By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.

Possible Complications• Cardiomyopathy • Congestive heart failure (rare) • Deformities • Heart arrhythmias (rare) • Mental impairment (varies,

usually minimal) • Permanent, progressive

disability • Decreased mobility • Decreased ability to care for self • Pneumonia or other respiratory

infections • Respiratory failure

Treatment

Treatment varies on your child's age, overall health,

and medical history the extent of the condition the type of

condition your child's tolerance for specific medications, procedures, or therapies

expectations for the course of the condition your opinion or preference

TreatmentCan include...

•physical therapy •positioning aids - used to help the

child sit, lie, or stand •braces and splints - used to prevent deformity, promote

support, or provide protection •medications

•nutritional counseling •psychological counseling

TreatmentThere is no cure yet for DMD, however case and symptom management is currently “successful”

Right now there are many clinical trials in process, like administering Albuterol (beta adrenergic receptor agonist drug that increases strength and muscle mass) also, they want to treat with Utrophin (sometimes can be substituted for dystrophin)

Embryonic stem cell transplants is another treatment they are looking into. It is hoped that injecting healthy, nonspecialized stem cells into DMD victims will cause the stem cells to specialize and producestructurally and functionally correct dystrophin. If dystrophin can be produced, it may slow the progression of the disease, or cure it altogether.

All in all, what really killsthe people affected

by DMD is the

failure of the heart muscles…

(death usually occurs by age 25)

Support Groups•Duchenne Muscular Dystrophy Support Group

• MDA (Muscular Dystrophy Association

Works Citedhttp://depts.washington.edu/pwdlearn/web/glossary/glossary.htm

http://www.mda.org/publications/fa-dmdbmd-family.html

http://health.nytimes.com/health/guides/disease/duchenne-muscular-dystrophy/overview.html

http://www.ikm.jmu.edu/Buttsjl/ISAT493/Duchenne%20Muscular%20Dystrophy/duchennesymptoms.html

http://genetics.kaiser.org/home/genetics101highlights.htm

http://www.nlm.nih.gov/medlineplus/ency/imagepages/19097.htm