A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Neuromuscular Disorders

Volumn 21, Issue 3, 2011, Pages 232-234

  van den Berg, Linda E M ^a   de Vries, Juna M ^a   Verdijk, Robert M ^a   van der Ploeg, Ans T ^a   Reuser, Arnold J J ^a   van Doorn, Pieter A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Fatigue; Glycogenosis type II; Lysosomal storage disease; Muscle fiber type; Muscle pathology

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DNA DETERMINATION; FATIGUE; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCLE CELL; MYALGIA; PRIORITY JOURNAL;

ADULT; BIOPSY; FATIGUE; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MUSCLE FIBERS, SLOW-TWITCH;

EID: 79951954187     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.11.016     Document Type: Article

References (24)

1. Hirschorn R., Reuser A. Glycogen storage disease type II: acid alpha-glucosidase (Acid Maltase) deficiency. The metabolic and molecular bases of inherited disease 2001, 3389-3420. Mc Graw-Hill. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, M.D. Valle (Eds.).
2. van der Ploeg A.T., Reuser A.J. Pompe's disease. Lancet 2008, 372(9646):1342-1353.
3. Hagemans M.L., Winkel L.P., van Doorn P.A., Hop W.J., Loonen M.C., Reuser A.J., et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005, 128(Pt 3):671-677.
4. Engel A., Hirschhorn R. Acid maltase deficiency. Myology 2004, 1559-1586. Mc Graw-Hill, New York. D.K. Nogueira (Ed.).
5. Fukuda T., Ewan L., Bauer M., Mattaliano R.J., Zaal K., Ralston E., et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006, 59(4):700-708.
6. Fukuda T., Roberts A., Ahearn M., Zaal K., Ralston E., Plotz P.H., et al. Autophagy and lysosomes in Pompe disease. Autophagy 2006, 2(4):318-320.
7. Hesselink R.P., Wagenmakers A.J., Drost M.R., Van der Vusse G.J. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta 2003, 1637(2):164-170.
8. Thurberg B.L., Lynch Maloney C., Vaccaro C., Afonso K., Tsai A.C., Bossen E., et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 2006, 86(12):1208-1220.
9. Shea L., Raben N. Autophagy in skeletal muscle: implications for Pompe disease. Int J Clin Pharmacol Ther 2009, 47(Suppl. 1):S42-S47.
10. Wokke J.H., Escolar D.M., Pestronk A., Jaffe K.M., Carter G.T., van den Berg L.H., et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008, 38(4):1236-1245.
11. Engel A.G. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1970, 93(3):599-616.
12. Karpati G., Carpenter S., Eisen A., Aube M., Di Mauro S. The adult form of acid maltase (alpha-1, 4-glucosidase) deficiency. Ann Neurol 1977, 1(3):276-280.
13. Papapetropoulos T., Paschalis C., Manda P. Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres. J Neurol Neurosurg Psychiatry 1984, 47(2):213-215.
14. Horoupian D.S., Kini K.R., Weiss L., Follmer R. Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency. Arch Neurol 1978, 35(3):175-178.
15. Raben N., Fukuda T., Gilbert A.L., de Jong D., Thurberg B.L., Mattaliano R.J., et al. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005, 11(1):48-56.
16. Hawes M.L., Kennedy W., O'Callaghan M.W., Thurberg B.L. Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease. Mol Genet Metab 2007, 91(4):343-351.
17. Drost M.R., Schaart G., van Dijk P., van Capelle C.I., van der Vusse G.J., Delhaas T., et al. Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle Nerve 2008 Feb, 37(2):251-255.
18. Winkel L.P., Hagemans M.L., van Doorn P.A., Loonen M.C., Hop W.J., Reuser A.J., et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol 2005, 252(8):875-884.
19. de Vries J.M., Hagemans M.L., Bussmann J.B., van der Ploeg A.T., van Doorn P.A. Fatigue in neuromuscular disorders: focus on Guillain-Barre syndrome, Pompe disease. Cell Mol Life Sci 2009.
20. Drost M.R., Hesselink R.P., Oomens C.W., van der Vusse G.J. Effects of non-contractile inclusions on mechanical performance of skeletal muscle. J Biomech 2005, 38(5):1035-1043.
21. Chaudhuri A., Behan P.O. Fatigue in neurological disorders. Lancet 2004, 363(9413):978-988.
22. McArdle W.D. Skeletal muscle: structure and function. Exercise physiology 1996, 314-336. Williams and Wilkins, Baltimore. D. Balado (Ed.).
23. Fitts R.H., Widrick J.J. Muscle mechanics: adaptations with exercise-training. Exerc Sport Sci Rev 1996, 24:427-473.
24. Raben N., Danon M., Gilbert A.L., Dwivedi S., Collins B., Thurberg B.L., et al. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 2003, 80(1-2):159-169.