Muscular Dystrophy

1. Muscular Dystrophy Brielle Lisa Rebecca Uong Erin Dietsche

2. What Is It? Muscular Dystrophy (MD) is a group of inherited muscle diseases, in which muscle fibers are unusually susceptible to damage. Muscles, primarily voluntary muscles, become progressively weaker. In the late stages of muscular dystrophy, fat and connective tissue often replace muscle fibers. Some types of muscular dystrophy affect heart muscles, other involuntary muscles and other organs.

3. The Four Types of Muscular Dystrophy • The four types are pseudohypertrophic, facioscapulohumeal, limb-girdle, and mixed type. • Pseudohypertrophic • Within 10-15 years, the patient is expected to pass away • Starts in early childhood • Facioscapulohumeral • Does not shorten life • Limb-Girdle • Does not shorten life • Mixed Type • By 5 years of having it, the patient is expected to pass away

4. Symptoms-Pseudohypertrophic • Between 3-5 years it affects leg and pelvic muscles and then spreads throughout the body • Spreads to the involuntary muscles • Muscle weakness produces a waddling walking stride, toe walking, and lordosis • Children will have difficulty climbing stairs, fall down often, and cannot run properly • Calf muscles become enlarged and firm • Muscles deteriorate rapidly • Between ages 9-12, children with this disorder become confined to wheel chairs • Late in this disease, rapid weakness of the cardiac muscle causes irregular heart beat and electrocardiogram abnormalities • Death commonly results from sudden heart failure, respiratory failure, or infection of the cardiac muscle

5. Symptoms-Facioscapulohumeral • Slowly progresses • Begins in muscular dystrophy that usually occurs before age 10, but can also develop during teenage years • It initially weakens face muscles, shoulders, and upper arms, but like pseudohypertrophic, it spreads to all voluntary muscles • It produces a pendulous lower lip • Absence of the nasolabial fold • The inability to pucker the mouth or whistle • Abnormal facial expressions when laughing or crying • Other signs could be the diffusion of facial flattening that leads to a mask like expression • Inability to raise the arm above the head • In infants, the inability to suckle

6. Symptoms-Limb Girdle • Begins between ages 6 and 10, but can also occur in early adulthood, which is less often • Muscle weakness first appears in the upper arm and pelvic muscles • Other symptoms include winging of the scapulae • Lordosis with abdominal profusion • Waddling gait • Poor balance • Inability to raise the arms

7. Symptoms- Mixed Dystrophy • Begins between ages 30 and 50 • Affects all voluntary muscles • Causes rapid progressive deterioration

8. Treatments for Muscular Dystrophy • There is no known treatment that can stop this disease. • But, orthopedic technologies, as well as exercise and physical therapy, and if necessary, surgery can correct cramps to preserve mobility and independence. • Family members who are carriers of this disease should receive genetic counseling regarding the risk of transmitting this disease. • It is recommended for the carriers of pseudohypertrophic to find out the fetus’s sex when pregnant. • Therapy can help slow the progression of the disease.

9. Genetics-How is it inherited? Muscular Dystrophy is caused by an X-linked recessive gene. It is found on the X chromosome. Different types of muscular dystrophy are due to errors in different proteins, determined by different genes. Lack of dystrophin causes breakdown of muscle fibers that leads to a specific clinical pattern that has been called Duchenne muscular dystrophy. The different forms of muscular dystrophy are caused by an error in a specific gene associated with muscle function. It is caused by an abnormality on the 23rd chromosome pair.

10. Bibliography • "Muscular Dystrophy." Professional Guide to Diseases. Ed. Stanley Loeb. 3rd ed. Springhouse, PA: Springhouse, 1989. 521-22. Print. • “Muscular Dystrophy Canada: Genetics. “Muscular Dystrophy Canada: Muscle.ca. Web. 01 June 2011. http://www.muscle.ca/national/musc ular-dystrophy/genetics.html.

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