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
GENETIC INHERITANCE
- 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)
SYMPTOMS
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
Waddling
Difficulty supporting body to sit or stand
Thickened, firm leg muscles and "wasted" muscles
Frequent falling
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
BIRTH STATISTICS
- 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
TREATMENT OPTIONS
- 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
SOURCES
"Genetic Diseases and Disorders; Studies from Vita Salute University Have Provided New Information about Muscular Dystrophy and Genetics (Direct interplay between two candidate genes in FSHD muscular d." Obesity, Fitness & Wellness Week. 11 Apr. 2015: 1197. eLibrary. Web. 15 Apr. 2015.
"Inborn Genetic Diseases and Conditions; Study Results from University of Oulu Broaden Understanding of Muscular Dystrophy." Obesity, Fitness & Wellness Week. 02 Nov. 2013: 3770. eLibrary. Web. 15 Apr. 2015.
"Muscular dystrophy." Complete Home Medical Guide. 2004. eLibrary Science. Web. 18 Apr 2015.
Lovering, Richard M., Neil C. Porter, and Robert J. Bloch. "The Muscular Dystrophies: From Genes to Therapies." Physical Therapy 12(2005):1372. eLibrary Science. Web. 18 Apr 2015.
Jay, Venita, and Jiri Vajsar. "The dystrophy of Duchenne." Lancet 9255(2001):550.eLibrary Science. Web. 18 Apr 2015.
"Duchenne's muscular dystrophy." The Mosby Medical Encyclopedia. 1996. eLibrary Science. Web. 18 Apr 2015.