DUCHENNE MUSCULAR DYSTROPHY

DISORDER

• Age: Over 1 Year 
• Main symptoms: Unable to walk
• Possible diagnosis: Cerebral Palsy
• Actual diagnosis: Duchenne Muscular Dystrophy

Genes

• Chromosome: X 
• Gene: DMD
• Normal Protein that the gene makes: Dystrophin
• Lack of protein: Muscle Weakness

INHERITANCE

• Located on the X Chromosome
• Not Inherited, new mutation
• Hereditary and De Novo mutations
• DMD is rarely inherited

ComPLications

• Cardiomyopathy
• Congestive Heart Failure
• Deformities
• Pneumonia
• Respiratory Failure

PROGNOSIS

STATistics & Survival

• Affects: 1 in 3,500 to 5,000 newborn males worldwide
•  400 and 600 boys in the United States are born with these condition
• Survival: 100% of males 5 through 9 years of age
• 99% of males 10 through 14 years of age
• 85% of males 15 through 19 years of age

TReatments

• Amino Acids
• Creatine
• Green Tea extracts
• Fish Oil
• G

Alternative treatments

• angiotensin-converting-enzyme inhibitors, beta-blockers, and diuretics
• Proton pump inhibitors (for people with gastroesophageal reflux)
• Assisted ventilation (nighttime use)

Sources

• http://www.nlm.nih.gov/medlineplus/cerebralpalsy.html
• http://www.medicinenet.com/cerebral_palsy/article.htm
• http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation
• http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy
• http://www.cdc.gov/ncbddd/musculardystrophy/data.html

SOurces (continued)

• http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm

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