Signs and Symptoms
Pathophysiology
Lysosomal glycogen accumulation begins before signs of clinical weakness, so early muscle involvement may not be clinically detectable. Healthy myofibrils are eventually replaced by accumulated lysosomal and free muscle glycogen, further impairing muscle function.6
Pompe disease presents across a spectrum of severity and age of onset, which can occur in infancy, childhood, or adulthood. Pompe disease is classified into infantile-onset (IOPD) or late-onset Pompe disease (LOPD).2
Manifestations of infantile-onset Pompe disease can include7:
Manifestations of late-onset Pompe disease can include2,7,8:
References:
1. Kishnani PS, Howell RR. J Pediatr. 2004 May;144(5 Suppl):S35–S43. 2. AANEM. Muscle & Nerve. 2009;40(1): 149-160. 3. van der Ploeg AT, Reuser AJ. Lancet. 2008;372(9649):1342–1353. 4. Toscano A, et al. Acta Myol. 2013;32(2):78–81. 5. Taglia A, et al. Acta Myol. 2011;30(3):179–181. 6. Hesselink RP, et al. Biochim Biophys Acta. 2003;1637 (2):164–170. 7. Kishnani PS, et al. Genetics in medicine: official journal of the American College of Medical Genetics. 2006;8(5):267–288. 8. Remiche G, et al. Eur Neurol. 2012;68(2):75–78. 9. Kishnani PS, et al. Am J Med Genet A. 2013;161A(10):2431–2443. 10. Secretary's Final Response RE Committee's Recommendation to add Pompe Disease to the RUSP [Internet]. Recommendations to HHS Secretary with Responses. U.S. Department of Health and Human Services. 2015. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/secretary-final-response-pompe.pdf. Accessed October 7, 2019. In.
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