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Duchene Muscular Dystrophy (Background Information (Anatomy (Muscle…
Duchene Muscular Dystrophy
Muscular System
Muscle Weakness
Hips, pelvis, and legs
Difficulty standing
Muscle contracture
Muscles move less, they shrink and shorten
Unsteady/Abnormal gait
Pain and stiffness
Limited mobility and movement
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Respiratory System
Respiratory Muscles Weaken
Diaphragm weakens
Muscle for inhaling,when it moves down, it pulls air into the lungs .
Abdominal Muscles
When they contact, they push the diaphragm upward against the lung which forces air out .
Intercostal Muscles
Muscles expand and contract the chest cavity, allows organs to go in and out of the lungs.
Unable to cough
Unable to clear mucus from lungs
Lower Respiratory infection
Pneumonia
Upper respiratory infection
Cold
Sinusitis
Abnormal breathing patterns when sleeping
Sleep disorders breathing
Restless sleep and daytime fatigue
Cardiovascular System
Muscle Weakness
Heart
Heart muscle disease
Cardiomyopathy
The lack if dystrophin in the heart muscle all people born with Duchenne are also born with Cardiomyopathy
Dialated Cardiomyopathy
Heart Failure
Death
Background Information
Anatomy
Muscle tissue
Striated Muscles
Skeletal Muscle tissue
Cardiac Muscle tissue
Dystrophin Defect
Multiple nucleotide differences in their dystrophin gene sequence
Genes are sequences of DNA that, for the most part, code for proteins.
The flow of genetic information from DNA to RNA to protein
Referred to as the
central dogma
of molecular biology.
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Physiology
Muscle tissue
Striated Muscles
Cardiac Muscle Tissue
Dystrophin Defect
Damaged inner frameworks and cytoskeleton, to proteins and the extracellular matrix
Cell membrane of muscle cells become damaged
Cells eventually die
No Dystrophin
Adding mechanical stress would injure fibers
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Barrier keeping constituents of the cell in and unwanted substances out
Gate allowing transport into a cell of essential nutrients and movement from the cell of waste products
Maintain homeostasis
Permeability of the cell membrane
Efflux of intracellular CK and influx of extra cellular calcium
Creatine Kinase
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Reduced supply of oxygen and nutrients
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Protein that works together to strengthen muscle fibers and protect them from injury as muscles relax and contract
Skeletal Muscle Tissue
DMD affects
Skeletal muscle fibers
that are specialized in fast contractions
Fast Oxidative
Use Aerobic respiration
May switch to anaerobic respiration (glycolysis)
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Fast Glycolotic
Use Aerobic glycolysis
Fatigues more quickly than fast oxidative
Sarcomere
The contractile unit of a muscle cell made of protein
Myosin
Thick myofilament
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Actin
Thin myofilament
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Muscle cell
Epimysium
A layer of connective tissue that surrounds entire muscle cell
Endomysium
A sheet of connective tissue that surrounds a muscle cell
Myyofibril
Contractile fibers inside a muscle cell
Fasicles
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Receives membrane potential inside cell
T-Tubule
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Upstream
Direct: Duchenne Muscular Dystrophy happens because of a lack of dystrophin, a protein made by the muscle cells.
Indirect: Duchenne MD is progressive, meaning problems get worse with age.
Eventually the body cannot keep up with repair and regeneration, which leads to muscle loss (wasting) and weakness.
Exhaustion of muscular regenerative capacity, and chronic local inflammation
Leading to substitution of myofibers by connective and adipose tissue.
This protein loss prevents the muscle fibers from working properly, leading to weakness.
Direct: Recent fall resulting in a fracture to his Radius
Indirect: Possibly low vitamin D levels. Less Active which reduced bone strength, which could have caused a low-trauma extremity fracture
Downstream effects