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13 terms

Muscle Disorders

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Dystrophin
Stabilizes the sarcollema protects muscle fibre during contraction
Forms the dystrophin-glycoprotein complex
Duchennes Muscular Dystrophy
X linked recessive
pseudohypertrophy due to accumulation of muscle and fat
Beckers
Less dangerous form of muscle dystrophy
McArdles Disease
Myophosphorylase deficiency
Accumulation of glycogen
Impaired ability to produce lactic acid
muscle cramps
Channelopathies
Autosomal dominant
Dysfunction in muscle membrane
Periodic paralysis
Mytonic dystrophy
Periodic Paralysis
Leaking K+ back into cells
Initial inexciteability and thus paralysis
Myotonic dystrophy: Hyper-excitability and delayed relaxation of muscle
Congenital dystrophy
Inherited defect
Can cause mitochondrial, metabolic, membrane, muscular disorder
Progress slowly
DNA Analysis
Used to investigate disorders with major genetic component
Single gene disorders are easiest to identify
May require blood/ muscle samples
Used to detect DMD and Becker
Muscle Biopsy
Dystrophin labelling -DMD
Enzymes of glycolysis- Mc Ardles
Enzymes of oxidative metabolism
cytochrome C staining
Used to test respiratory chain abnormalities
Succinate dehydrogenase
Marker enzyme for mitochondria
Electromyography
Measure action potential of muscle
Useful to measure alterations in muscle action potential
Plasma CK analysis
Indicated muscle damage
Present in normal muscle after high amounts of eccentric contraction
Catalyses conversion of creatine and ADP to phosphocreatine and ADP