Duchenne Muscular Dystrophy By: Callia Ricozzi. What is Muscular Dystrophy?  The deterioration of the muscles  Dystrophin not made  gene mutation 

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Presentation transcript:

Duchenne Muscular Dystrophy By: Callia Ricozzi

What is Muscular Dystrophy?  The deterioration of the muscles  Dystrophin not made  gene mutation  Dystrophin is a protein in most muscle cells  aids in movement  Duchenne is the most severe form  Affects 1 in 3500 male births  Guillaume–Benjamin–Amand Duchenne

Location  Xp21.2  X chromosome, P arm at 21.2

How is it inherited?  X linked recessive inheritance  Affects mostly boys  Women usually carriers

Symptoms  Symptoms before age 6  Muscle weakness between 6 and 11 years  Bone developmental problems  Enlarged calf muscles  Heart failure and irregular beat  Respiratory disorders

Living With it  Can have difficulty sleeping  Confined to a wheelchair at age 12  Usually only live to about age 30

Activity  Can’t participate in high impact sports  Low impact aerobics are good  Swimming is one of the best activities to participate in

Physical features

Diagnosis  Muscular biopsy  Blood exams for DMD levels  Blood exams for elevated creatine kinase

Treatment - No Cure  Steroids for muscles  Physical therapy  Limb braces or a wheelchair  Respiratory therapy

Summary  Deterioration of muscles  X linked Recessive  Wheelchair confinement at age 12  Life expectancy to age 30  Muscular biopsy and blood tests  Physical therapy and low impact aerobics

Works Cited   "About Duchenne." EndDuchenne.Org. Parent Project Md, n.d. Web. 30 Nov  "Duchenne Muscular Dystrophy." Medline Plus. N.p., 01 Feb Web. 30 Nov  "Managing Daily Life." EndDuchenne.Org. N.p., n.d. Web. 30 Nov  Affected man in Wheelchair. N.d. Photograph. SugnesWeb. 30 Nov  Autosomal Recessive. N.d. Photograph. Inheritance patternsWeb. 30 Nov  H&E Stain. N.d. Photograph. NueuromuscularWeb. 30 Nov  Learning About Duchenne Muscular Dystrophy  Lime Green. N.d. Photograph. Awareness-Jewlery.comWeb. 30 Nov  McKusick, Victor A.. "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD." OMIM. ohns Hopkins University, 01 Oct Web. 30 Nov  Physical Deformities. N.d. Photograph. MEDCHROME MAGAZINEWeb. 30 Nov  United States. Center for Disease controll. Muscular Dystrophy. Web..  United States. National Institute for Neurologiclal Disorders and Stoke. NINDS Muscular Dystrophy Information Page Web..