Duchenne Muscular Dystrophy (DMD)
Genetic Disorder Project By: Beau Hinson & Madison Kennedy
HISTORY, DISCOVERY, AND CONTRIBUTIONS
- Charles Bell in 1830
- Conte and Gioja in 1838
- Partridge in 1847
- Edward Meryon in 1852 suggested fatty replacement in muscles
- Guillaume-Benjamin-Amand Duchenne studied in 1861. He noted hypertrophy, fibrosis, and paralysis among 40 patients
- Caused by dystrophin gene mutation
- Dystrophin protein provides structure and stability of muscle tissue
- The disorder in found on the 4q35 chromosome
- Carried on the X chromosome, sex-linked
- Females rarely affected
ARE CERTAIN CULTURES MAINLY AFFECTED?
- Numbers are higher in some of the larger countries
- Many cases don't deal with culture
- Unknowingly passing the recessive gene to offspring
- Countries with a national DMD registry (below in red)
Seen around walking years (3-5) or could delay walking to 18 months
Symptoms can almost always directly diagnose, along with CK Level blood test
- Weakness starting in hips, pelvis, and legs
Troubles climbing stairs
Difficulty supporting body to sit or stand
Thickened, firm leg muscles and "wasted" muscles
MAJOR EFFECTS AND PROBLEMS
- Hardly any dystrophin produced by the protein 427 kDa found on muscle fibers' membranes
- Scoliosis spinal curvature development
- Lordosis spinal curvature (swayback)
- Stiffened flexed joints called contractures
- Weaker, thicker heart
- Breathing problems
- Fatty tissue deposits
- Developing of lung infections and pneumonia
- Fatal due to heart and respiratory failure
ANY OTHER NAMES?
- Duchenne Muscular Dystrophy is sometimes called pseudohypertrophic muscular dystrophy because of the enlarged calf muscles
- Usually referred to as DMD
- DMD is the most common out of 9 types of muscular dystrophy
- 50% of cases are Duchenne's
- Impacts 1 in 4,000 boys in the US
- 1 in 3,500 infant boys affected globally
- Affects 40,000 people worldwide
LIFE EXPECTANCY STATISTICS
- Patients used to only live up to their late teens
- Medical practices and techniques improved some life expectancy to late 20s and even into the 30s and 40s
- Average age is around 27
- Physical therapy keeps the limbs in motion
- Support splints
- Surgical spinal rods for spinal alignment
- Exercise daily
- Patients are confined to a wheelchair around 12, when the ability to walk is lost
- Antibiotics for lung infections
- Corticosteroids slow muscular deterioration
- Genetic counseling for parents and siblings
PEOPLE WITH DMD
- Bryson Foster, a 14-year-old from Concord, NC, is the former MDA National Goodwill Ambassador for Muscular Dystrophy awareness across the U.S.
- MDA (Muscular Dystrophy Association) gives the position to new leaders every few years
- Reagan Imhoff, a Wisconsin girl, will be named the 2015 MDA National Goodwill Ambassador
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