Adult onset metabolic/mitochondrial myopathies and dystrophies

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Genetic Myopathies: Diagnosis • Cranial Nerves • Ptosis, Facial, neck, bulbar weakness (fundoscopy) • Torso • Scapular, pectoralis, paraspinal • Limbs • Contractures, pattern of weakness, pseudohypertrophy, myotonia, rippling • CR ECG, ECHO, PFTS
Genetic Myopathies: Laboratory • CPK • Neuro/myopathic range • Ethnic variation • Fluctuation of CPK • Mild My, drugs, or <strong>metabolic</strong> • Marked My, Trauma, Myotoinc, Metabolic (Rhabdomyolysis) • EMG • Chronic Myopathy, “Myositis”, Myotonia, electrical silence Brody syndrome, Rippling muscle
Page 1 and 2: Adult onset metabolic/mitochondrial
Page 3 and 4: Genetic Myopathies Congential Myopa
Page 5 and 6: Myositis & Genetic Myopathies: Pote
Page 7: Genetic Myopathies: Gait
Page 11 and 12: Myotonic dystrophy: Clinical Manife
Page 13 and 14: Myotonic dystrophy: Genetics .... C
Page 15 and 16: Dystrophin-Glycoprotein Complex Lam
Page 17 and 18: DMD/BMD: Biopsy
Page 19 and 20: Fascioscapulohumeral muscular dystr
Page 21 and 22: LGMD dominant LGMD1A 5q31 Myotilin
Page 23 and 24: LGMD
Page 25 and 26: LGMD 2I - MRI findings A B C Fische
Page 27 and 28: McArdles Myopathy (GSD5): Features
Page 29 and 30: GSDV
Page 31 and 32: POMPE (GSD2): PATHOGENESIS PATHOLOG
Page 33 and 34: LATE-ONSET POMPE DISEASE LatPompe L
Page 35 and 36: DBS aids in early diagnosis The ava
Page 37 and 38: Cardiomyopathy Liver Failure Ophtha
Page 39 and 40: mtDNA mutations: phenotype-genotype
Page 42: Any Questions?

Adult onset metabolic/mitochondrial myopathies and dystrophies

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