Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
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A rapid <strong>and</strong> near uniformly fatal<br />
disease course for untreated infants<br />
Infants presenting with signs within the first year of life typically have a poor prognosis,<br />
have a rapidly progressive disease course, <strong>and</strong> die early (m8.7)<br />
Survival in 163 untreated infants<br />
Proportion of patients surviving<br />
1.0<br />
0.9<br />
0.8<br />
0.7<br />
0.6<br />
0.5<br />
0.4<br />
0.3<br />
0.2<br />
0.1<br />
0<br />
Kaplan-Meier Survival Rate<br />
12 months 18 months 24 months<br />
25.7% 14.3% 9.0%<br />
0 3 6 9 12 15 18 21 24 27 30<br />
Age (months)<br />
Figure reprinted from Kishnani PS, et al. Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study<br />
on the natural history of infantile-<strong>onset</strong> Pompe disease. J Pediatr. 2006;148:671-676, with permission from Elsevier.<br />
33
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