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
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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)
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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

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Gower's Sign

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
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ANY OTHER NAMES?

  • Duchenne Muscular Dystrophy is sometimes called pseudohypertrophic muscular dystrophy because of the enlarged calf muscles
  • Usually referred to as DMD
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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
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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
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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
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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.