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Stalberg Myopati
Myopathy, Stålberg clincial biochem Erik Stålberg Uppsala, Sweden heredity MYOPATHY biopsy genetics imaging Electrodes A B C MU D E Conc EMG signals from 2-15 muscle fibres CNEMG • At rest denervation and spec spontaneous activity (myotonia, CRD, neuromyotonia) • MUP number of fibres in recorded area fibre diameters n-m transmission • IP recruitment pattern total number of MUs at full effort 1 Myopathy, Stålberg Spontaneous activity from the muscle • • • • • FINDING fibrillation potentials, psw myotonic discharges CRD myokymic discharges myogenic extra discharges Spontaneous activity from the nerve • • • • • QUANTIFY AS • #/ 10 recording sites • or +, ++, +++, ++++ FINDING neuromyotonic discharges myokymic discharges muscle cramps fasciculations neurogenic extra discharges QUANTIFY AS • #/ 10 recording sites • or +, ++, +++, ++++ – few – moderate – abundant – Few (per time unit) – moderate – abundant • or • or – spontaneous or – after provocation – spontaneous or – after provocation Stålberg Stålberg Spontaneous acitivity generated in the muscle fibre Spontaneous activity in myopathy (Stålberg,Daube 2003) Fib, PSW 5 ms Fibrillation potentials Myot discharges CRD Muscular dystrophies IBM 100 uV 500 ms Positive waves 50 uV Debrancher Glycogenosis. 5 ms Acid Maltase Deficiency Hyperkalemic per paralysis Nemaline myop Myotonic discharges 50 ms Myotubular myopathy 100 uV Mitochondrial myopathy Carnitine Def Hypothyroid myopathy 100 ms 5 ms Complex repetitive discharge Myositis Rhabdomyolysis 100 uV Toxic; chloroquine alcoholic 5 ms 100 ms Modified from Liguori Spontaneous activity in myopathy Fib, PSW Myot discharges Acid Maltase Deficiency Acid Maltase Deficiency Hyperkalemic per paralysis Hyperkalemic per paralysis Myotubular myopathy LGMD 1A Spontaneous activity in myopathy CRD Fib, PSW Acid Maltase Deficiency Myot discharges Acid Maltase Deficiency CRD Acid Maltase Deficiency Hypothyroid myopathy Hypothyroid myopathy Hypothyroid myopathy Hypothyroid myopathy Hypothyroid myopathy Myositis Myositis Myositis Myositis Myositis Toxic; chloroquine Chloroquine Modified from Liguori Modified from Liguori 2 Myopathy, Stålberg Spontaneous activity in myopathy Fib, PSW Myot discharges Spontaneous activity in myopathy CRD Fib, PSW Muscular dystr Muscular dystr IBM IBM Debrancher Glycogen. Debrancher Glycogen. Myot discharges CRD Myotonic conditions LGMD 1A Colchicine Chlorophenoxy Lipid lowering agent Modified from Liguori Myotonic discharge Modified from Liguori Myotonic discharge Avi wma Myotonia; warm up after 1 minute of activity Myotonia; warm up after 1 minute of activity wma avi 3 Myopathy, Stålberg MUP, normal TA CNEMG • At rest denervation and spec spontaneous activity (myotonia, CRD, neuromyotonia) • MUP number of fibres in recorded area fibre diameters n-m transmission • IP recruitment pattern total number of MUs at full effort MUP, myopathy TA Emery-Dreifuss muscular dystrophy, X-linked type 1 (EDMD; emerinopathy) Mild to moderate dystrophic changes: Fiber size variation, a few necrotic fibers, central nuclei, increase of fibrous connective tissue and fat between myofibers. Courtesy Kallimo, 2010 4 Myopathy, Stålberg EMG - interference pattern CNEMG Myopathy • At rest denervation and spec spontaneous activity (myotonia, CRD, neuromyotonia) • MUP Normal number of fibres in recorded area fibre diameters n-m transmission • IP Neuropathy recruitment pattern total number of MUs at full effort Interference pattern analysis in normal, neuropathic and myopathic conditions IP MUP Myopathy Tib ant 18446 CRD in Pompe´s disease (CN rec) avi 5 Myopathy, Stålberg CRD in Pompe´s disease (CN rec) Complex repetitive discharge, CRD pacemaker wma Complex repetitive discharge, CRD co-pacemaker 2 1 3 4 Hereditary distal myopathy (CN rec) Myopathy, EDB Lat vastus m 3741 6 Myopathy, Stålberg Muscle fibres in myopathy Duchenne muscular dystrophy * (dystrophinopathy, Duchenne phenotype, WMS 1.1) ↓ ↓ ← An advanced stage: • Many fibers are necrotized (→) with phagocytes removing cell debris. • Some fibers are hypercontracted (* ) * ↓ normal hypertrophy atrophy ← ← splitting Recording from 2 or more still synchronous AP.s from branches of a split muscle fibre may produce high ampl ↑ H&E staining Courtesy Kallimo, 2010 Stålberg Split muscle fibers Scanning EMG Scan in a normal muscle (simulation) Scan in a myopathic muscle (simulation) 7 Myopathy, Stålberg Scanning EMG Scanning EMG Normal Normal Muscular dystr MND TA muscle Stålberg 0 1 mV 2 ms Scanning EMG Sensitivity/specificity of EMG in Myopathies •Sensitivity (abnormal vs normal): •depends on type of myopathy: •Duchenne, myositis…….. 90-99% •Metabolic myopathy …….may be very low •Specificity (classification): •EMG usually not specific in separating subgroups EMG combined with other findings gives a clue •Myopathy +Neuropathy; •think of mitochondrial dysfunction, •malignancy •Normal EMG in clinical myopathy; •think of metabolic myopathy •Performance/EMG discrepancy; •Weakness + full EMG pattern •Weakness + normal EMG myopathy central •Weakness/fatigue •central •motor neurone •peripheral nerve; pnp, focal •muscle (nm-j, myopathy, periodic weakness) •Numbness •Cramps • myotonia, ben. fasc. syn., neurotonia, stiff p. syn •Pain •ICU •Critical illness… 8 Myopathy, Stålberg •Weakness/fatigue •central •motor neurone •peripheral nerve; pnp, focal •muscle (nm-j, myopathy, periodic weakness) •Cramps • myotonia, ben. fasc. syn., neurotonia, stiff p. syn •Pain •ICU •Critical illness… 9
