Adult onset metabolic/mitochondrial myopathies and dystrophies

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A rapid and near uniformly fatal disease course for untreated infants Infants presenting with signs within the first year of life typically have a poor prognosis, have a rapidly progressive disease course, and die early (m8.7) Survival in 163 untreated infants Proportion of patients surviving 1.0 0.9 0.8 0.7 0.6 0.5 0.4 0.3 0.2 0.1 0 Kaplan-Meier Survival Rate 12 months 18 months 24 months 25.7% 14.3% 9.0% 0 3 6 9 12 15 18 21 24 27 30 Age (months) Figure reprinted from Kishnani PS, et al. Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671-676, with permission from Elsevier. 33
LATE-ONSET POMPE DISEASE LatPompe Late presentation CLINICAL PRESENTATION Hirschhorn R, et al. In: The Metabolic and Molecular Bases of Inherited Disease. 2001:3389-3420.
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 and 8: Genetic Myopathies: Gait
Page 9 and 10: Genetic Myopathies: Laboratory •
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: POMPE (GSD2): PATHOGENESIS PATHOLOG
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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