Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a disease caused by a mutation of the Dystrophin gene, which produce membrane stabilizing dystrophin proteins

Background Info

First documented by a french neurologist, Guillaume Duchenne, in the 1860s. He was visiting hospital wards in Paris in search for rare neuromuscular disorders when he came across patients with progressive muscle weakness.

Prevalance

Occurs primarily in males

US:

Most data on DMD prevalence comes from outside of the US, therefore figures from the US are not exact
Estimated 15 out of every 100,000 males between ages 5 and 24

Worldwide:

1 out of every 7,250 males between ages 5 and 24

By ethnicity:

The disease is more prevalent with the Hispanic and non-Hispanic White ethnicities

Prognosis

In 2007, 85% of males who were born 15-19 years earlier were still living, and 58% of those born 20-24 years earlier were still living.

The mutated gene is present in the X Chromosome.

The disease has an X-linked recessive inheritance pattern, hence it's prevalence in males.

Symptoms

Females who carry the trait are usually asymptomatic
Can appear as early as age 3, and can be diagnosed by signs of motor skills development delays.
Muscle weakness in the hips, pelvic area, thighs and shoulders, and skeletal muscles in the arms, legs and trunk.

Treatments

Can vary by patients, but steroid treatments are common. They slow down the muscle degradation process.

Current Research

Scientists are attempting to find a way to conduct the Gene Transfer method with DMD patients: Involves injecting healthy Dystrophin genes in order to replace the faulty ones

Works Cited

Blast. NCBI, blast.ncbi.nlm.nih.gov/Blast.cgi?PAGE=Proteins&PROGRAM=blastp&PAGE_TYPE=BlastSearch&BLAST_SPEC=. Accessed 5 Feb. 2017.

Cancemi, Giovanni. Microscopic View of Chromosome X. Science Daily, www.sciencedaily.com/releases/2016/01/160112113605.htm. Accessed 5 Feb. 2017.

“Diagnostic Tools.” Centers for Disease Control and Prevention, www.cdc.gov/ncbddd/musculardystrophy/diagnostic-tool.html. Accessed 5 Feb. 2017.

“Duchenne De Boulogne: A Pioneer in Neurology and Medical Photography.” PubMed, NCBI, www.ncbi.nlm.nih.gov/pubmed/16225184. Accessed 5 Feb. 2017.

Duchenne Muscular Dystrophy. University of Utah, library.med.utah.edu/WebPath/HISTHTML/NORMAL/HCC/HCC17.html. Accessed 5 Feb. 2017.

Duchenne Muscular Dystrophy diagram. MDA, www.mda.org/disease/duchenne-muscular-dystrophy. Accessed 5 Feb. 2017.

“Facts about Muscular Dystrophy.” Centers for Disease Control and Prevention, Key Findings: Population-Based Prevalence of Duchenne and Becker Muscular Dystrophies in the United States. Accessed 5 Feb. 2017.

“Key Findings: Population-Based Prevalence of Duchenne and Becker Muscular Dystrophies in the United States.” Centers for Disease Control and Prevention, www.cdc.gov/ncbddd/musculardystrophy/features/key-findings-population-duchenne.html. Accessed 5 Feb. 2017.

MDA. www.mda.org/disease/duchenne-muscular-dystrophy/research. Accessed 5 Feb. 2017.

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