MUSCULAR DYSTROPHY

By: Alisha Kunz, Julia Rodenberg, Tyler Traisman and Nathan Wegner

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WHAT IS MUSCULAR DYSTROPHY? Muscular dystrophy is a group of muscle disease

that weaken the musculoskeletal and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

There are nine major forms of MD. They are Duchenne MD, Becker MD, Limb-Girdle MD, Emery-Dreifuss MD, Distal MD, Congenial MD, Myotonic MD, Oculopharyngeal MD and Facioscapulohumeral MD.

TYPES OF MUSCULAR DYSTROPHY CONT. Duchenne MD is the

most common form of childhood dystrophy.

Duchenne MD occurs in 1 in 3,500 boys.

Becker MD, much milder than Duchenne. Affects 1 in 30,000 boys.

Limb-girdle MD appears in teens and young adults and affects both males and females.

Faciospulohumeral MD also appears in teenage and early adult years and affects males and females. Facioscapulohumeral refers to muscles that the face, shoulder blades and upper arm.

Congenital MD is present at birth and can affect males and females.

TYPES OF MUSCULAR DYSTROPHY CONT. Emery-Dreifuss MD is a

rare form of MD that appears in childhood to early teens in only males.

Distal MD affects adult men and women and causes in the muscles furthest away from the center.

Myotonic MD, also called Steinert’s Disease, is the most common for of MD in adults.

Oculopharyngeal MD appears in middle aged men and women. Oculopharyngeal means eye throat.

Oculopharyngeal MD appears in middle aged men and women. Oculopharyngeal means eye throat.

SYMPTOMS OF MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHY --- NEWBORN TO TWO YEARS OLD

• A newborn child will be very similar to other babies, the child can roll over and function as a “normal” child.

• Once child begins walking, parents may notice difficulty balancing as well as standing.

• May notice child using gowers to stand “walking up legs” to stand up almost like a tripod.

TODDLER TO TEEN Child will begin walking

later then most children.

Child will have poor balance

Child will have difficult time walking on stairs

Child will have enlarged calf muscles

Difficulty running and jumping

CAUSES OF MD

INHERITANCE Every type of MD is caused by distinct

genetic mutations. MD are usually a group of inherited

conditions. They are passed down the family line through genetics.

EMBRYONIC MUTATIONS Spontaneous mutation in mother’s egg. Spontaneous mutations can also occur

during the development of the embryo

FAULTY GENES Incorrect or missing information in the

genes that produce dystrophin.

X-LINKED RECESSIVE GENETIC DEFECTS

X-LINKED RECESSIVE GENETIC DEFECTS - HOW BOYS ARE AFFECTED

VIDEOS http://

www.youtube.com/watch?feature=player_embedded&v=IGx12Wm_IEs

http://www.youtube.com/watch?feature=player_embedded&v=KA8W5UfE4ts

REFERENCES Richman, S., & Schub, T. (2011). Muscular Dystrophy, Duchenne's Benaroch, R. (2012, March 12). WebMD Medical Reference Kaneshiro, N. K. (2010, March 9). Duchenne muscular dystrophy. In Penn

medicine health encyclopedia. Retrieved May 9, 2012, from http://www.pennmedicine.org/encyclopedia/em_DisplayArticle.aspx?gcid=000705&ptid=1

Muscular dystrophies - an overview (2009, November 24). In Patient.co.uk. Retrieved May 9, 2012, from http://www.patient.co.uk/health/Muscular-Dystrophies-An-Overview.htm

Mayo clinic staff, . (2012, January 18). Muscular dystrophy causes. In Mayo clinic. Retrieved May 9, 2012, from http://www.mayoclinic.com/health/muscular-dystrophy/DS00200/DSECTION=causes