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Neurology Edited by Professor Emeritus Desire' Dubounet, IMUNE

Neurology Edited by Professor Emeritus Desire' Dubounet, IMUNE

Neurology Edited by Professor Emeritus Desire' Dubounet, IMUNE

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Muscle diseases: diagnostic proceduresLaboratory diagnosisSerum: ESR, rheumatoid tests, immunoelectrophoresisAcetylcholine receptor antibodies, myofibril antibodies, ENA, ANA, SMA Lactate,pyruvate, alanine (possibly also after exertion)CPK and isoenzyme, LDH, aidolase, electrolytes (potassium)Urine: myoglobin, glucose, phosphate, amino acidsCSF: lactate.Special investigationsLactate estimation after ischaemia and on exertion (ergometer)Electromyography (EMG), electroneurographyMuscle computerized tomography and ultrasoundMagnetic (spin echo) resonance spectroscopic measurement of creatine phosphate andATP under aerobic and anaerobic conditionsCardiac investigations (ECG, echocardiography, chest X-ray)Muscle biopsyHistology: inflammatory cells (polymyositis, vasculitis)Scatter of fibre size, increase of lipids, dystrophin demonstration (muscular dystrophy)Structural anomalies (congenital myopathies)Electron microscopy: lipids, glycogen, mitochondria (mitochondrial myopathies)Immunohistology: cellular infiltrates (lymphocytes), antigens, complement, antibodies (inmyositides, collagenoses)Biochemistry: anaerobic metabolismAcid maltase (Pompe's disease), muscle phosphorylase (McArdle's disease),phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, lactatedehydrogenaseAerobic metabolism (mitochondrial myopathies)Pyruvate carboxylase, carnitine, respiratory chain defectsMolecular biology: genome analysis with DNA probesBenign congenital myopathiesDefinition

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