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Duchenne Muscular Dystrophy (Muscle weakness (Skeletal problems (Scoliosis…
Duchenne Muscular Dystrophy
Direct cause
Fracture
Vertebral and no vertebral
Vitamin D deficiency
Low bone mineral density
Femur, Tubia, upper limb, long bone fractures
Domaged muscle cells due to repeated contraction and relaxation
No functional dystrophin protein
dystrophin is located between sarcolemma and actin myofilaments
dystrophin is a rod shaped cytoplasmic 427 KDA protein. Connect cytoskeleton to extracellular matrix
Functional dystrophin maintains structural integrity of muscle cells
Mutation the DMD gene localized on xp21
Indirect cause
Fatal, neuro muscular desordre
Recessive mutation in the x chromosome
More common in boy, most girl act as a carriers due to the presence of 2 x chromosome
Muscle weakness
Calf muscular hypertrophy
Increased size of calf muscle cells
Rigid muscles
Skeletal problems
Scoliosis
Abnormal curving
of spinal cord
Tight or rigid joints Affect knees, hips, feet, elbows, wrists,
fingers
Respiratory
problems
Weakness of diaphragm
Weakness of muscles surrounding lungs
Difficulty in breathing, Ineffective coughing, Sleep disordered breathing, Obstructive sleep Apnea, Shallow breathing at night
Atelectasis
Gastrointestinal
disorders
Gastrointestinal
disorders, Gastrointestinal
disorders, Gastrointestinal
disorders
Heart complications
Progressive enlargement of heart dilated heart chest pain heart failure
Backbround
weakened Muscle tissue
types of muscle
Skeletal muscle
Smooth muscle/ visceral muscle
spindle shaped single nuclei
involuntory control and triggered by hormones
Two types urinary and multi unit
found in visceral such as stomach, heart, lungs, abdomen, liver, pancreas
skeletal muscle connect to the skeleton provides mechanical support
Structural aspect
sliding filament
Thin and thick filament slide using ATP as energy source. Z disc are pulled together due to sliding
fascicle
groups of muscular cells bundled together by collagen
Transverse Tubules
long tubes witch are continuous with the plasma membrane
Muscle fiber
Muscle fiber contains myofibrils
composed of bundles of myofilaments with from bundle patterns
2 more items...
myofibrils are rod like structures, composed of sarcomeres appear dandled and are arrange to end
composed of sacomeres
2 more items...
Elongated cylindrical, multi nucleated and as striated apparance
Covered by sarcolemma surrounds striated muscle fiber cells
Cardiac muscle
Cardiac muscle fiber with intwrcalated muscle
found only in the heart
Involuntary control by heart, electricaly system striated
function of muscles
movement of internal organs
movement of blood, flow contraction of heart
movement and locomotion
generate heat
strengthen and stabilize joints
Maintain body posture
excitation contraction coupling
step 1 action potential in the motor neuron reaches neuromuscular junction triggers contraction
step 2 voltage gated calcium channels in the sarcolemma opens and calcium reaches axon terminals
step 3 Release of calcium induces release of acetycholine by exocytisis
step 4 Acetycholine bund to its receptors coupled with sodium chennel
Step 5 sodium chennels open and release and cause depolorization and action potential
step 6 Action potential initiated reached sarcolemma and T Tubules