Adult Form of Pompe Disease

Česká verzia

Authors: S. Voháňka
Authors place of work: Neurologická klinika LF MU a FN Brno
Published in the journal: Cesk Slov Neurol N 2014; 77/110(6): 667-676
Category: Minimonografie
doi: https://doi.org/10.14735/amcsnn2014667

Summary

Pompe disease (glycogen storage disease type 2, acid maltase deficiency) is inherited autosomal recessive metabolic disorder caused by deficiency of acid alpha-glucosidase and resulting in lysosomal glycogen storage in various tissues, mainly heart and skeletal muscle. Continuous spectrum of phenotypes from the rapidly progressive infantile form to the slowly progressive late onset form of the disease can be observed. Classical infantile form of the disease manifests soon after birth due to absent or nearly absent activity of the key enzyme. Typical manifestations include failure to thrive, muscle weakness, cardiomegaly, and respiratory failure. Before the era of substitution therapy, the majority of children died within the first year of life. Partial enzyme deficiency (severe mutation on one allele and milder on the second) leads to the less severe phenotype with manifestation in child- or adulthood. Time span is from the first to the sixth decade of life. Leading symptoms include slowly progressing limb girdle and trunk muscle weakness with significant involvement of respiratory muscles. There is no cardiomegaly. Suspicion of Pompe disease is confirmed in three steps. The first involves screening with the Dried Blood Spot test. Testing of the activity of alfa glucosidase in leukocytes is used to confirm the disease. Mutation analysis is important to assess the correlation between genotype and phenotype and to identify familial carriers.

Key words:
Pompe disease – alpha glucosidase – lysosomal storage diseases – limb-girdle muscle weakness

The author declares he has no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Zdroje

1. Hobson- Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Autopsy findings in late- onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab 2012; 106(4): 462– 469. doi: 10.1016/ j.ymgme.2012.05.007.

2. Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genet Med 2006; 8(5): 318– 327.

3. Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7(6): 713– 716.

4. Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998; 79(1): 69– 72.

5. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105(1– 2): 151– 156.

6. Lin CY, Hwang B, Hsiao KJ, Jin YR. Pompe’s disease in Chinese and prenatal diagnosis by determination of alpha- glucosidase activity. J Inherit Metab Dis 1987; 10(1): 11– 17.

7. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. J Am Med Assoc 1999; 281(3): 249– 254.

8. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12(2): 87– 92.

9. Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ,Loonen MC, Reuser AJ et al. Clinical manifestation and natural course of late- onset Pompe’s disease in 54 Dutch patients. Brain J Neurol 2005; 128(3): 671– 677.

10. Müller- Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007; 17(9– 10): 698– 706.

11. Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller- Felber W, Prasad S et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab 2011; 103(1): 1– 11. doi: 10.1016/ j.ymgme.2011.02.004.

12. Vohanka S, Oslejskova H, Hlavata J, Lukacs Z. Screening program for adult Pompe disease in Czech Republic. Neuromuscul Disord 2010; 20: 673.

13. Voháňka S, Ošlejšková H, Lukacs Z, Hlavatá J. Adultní forma Pompeho nemoci v ČR, rok druhý. Cesk slov Neurol N 2010; 73/ 106(4): S470.

14. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile- onset Pompe disease. J Pediatr 2006; 148(5): 671– 676.

15. Roberts M, Kishnani PS, van der Ploeg AT, Müller- Felber W, Merlini L, Prasad S et al. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab 2011; 104(4): 574– 582. doi: 10.1016/ j.ymgme.2011.08.011.

16. Schüller A, Wenninger S, Strigl- Pill N, Schoser B. Toward deconstructing the phenotype of late- onset Pompe disease. Am J Med Genet C Semin Med Genet 2012; 160(1): 80– 88. doi: 10.1002/ ajmg.c.31322.

17. Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol 2013; 70(7): 923– 927. doi: 10.1001/ 2013.jamaneurol.486.

18. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ 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. Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT,Carter GT, McDonald CM. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil 2008; 89(2): 320– 328. doi: 10.1016/ j.apmr.2007.08.153.

20. Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ,Van der Ploeg AT. Course of disability and respiratory function in untreated late- onset Pompe disease. Neurology 2006; 66(4): 581– 583.

21. Van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet 2008; 372(9646):1342– 1353. doi: 10.1016/ S0140- 6736(08)61555- X.

22. Echaniz- Laguna A, Mohr M, Lannes B, Tranchant C.Myopathies in the elderly: a hospital-based study. Neuromuscul Disord 2010; 20(7): 443– 447. doi: 10.1016/ j.nmd.2010.05.003.

23. Van der Ploeg AT. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives. Eur Respir J 2005; 26(6): 984– 985.

24. Van der Beek NA, Hagemans ML, Reuser AJ, Hop WC,Van der Ploeg AT, Van Doorn PA et al. Rate of disease progression during long-term follow-up of patients with late- onset Pompe disease. Neuromuscul Disord 2009; 19(2): 113– 117. doi: 10.1016/ j.nmd.2008.11.007.

25. Fuller DD, ElMallah MK, Smith BK, Corti M, Lawson LA, Falk DJ et al. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol 2013; 189(2): 241– 249. doi: 10.1016/ j.resp.2013.06.007.

26. Musumeci O, Catalano N, Barca E, Ravaglia S, Fiumara A, Gangemi G et al. Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients. Mol Genet Metab 2012; 107(3): 480– 484. doi: 10.1016/ j.ymgme.2012.07.024.

27. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK. Cardiovascular abnormalities in late onset Pompe disease and response to enzyme replacement therapy. Genet Med 2011; 13(7): 625– 631. doi: 10.1097/ GIM.0b013e3182142966.

28. Angelini C, Nascimbeni AC, Semplicini C. Therapeutic advances in the management of Pompe disease and other metabolic myopathies. Ther Adv Neurol Disord 2013; 6(5): 311– 321. doi: 10.1177/ 1756285613487570.

29. Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E et al. Observational clinical study in juvenile- adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol 2012; 259(5): 952– 958. doi: 10.1007/ s00415- 011- 6293- 5.

30. El- Gharbawy AH, Bhat G, Murillo JE, Thurberg BL,Kampmann C, Mengel KE et al. Expanding the clinical spectrum of late- onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab 2011; 103(4): 362– 366. doi: 10.1016/ j.ymgme.2011.04.009.

31. Filosto M, Todeschini A, Cotelli MS, Vielmi V, Rinaldi F, Rota S et al. Non- muscle involvement in late- onset glycogenosis II. Acta Myol 2013; 32(2): 91– 94.

32. Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S et al. Urge incontinence and gastrointestinal symptoms in adult patients with Pompe disease: a cross- sectional survey. JIMD Rep. In press 2014. doi: 10.1007/ 8904_2014_334.

33. Lechtzin N, Wiener CM, Shade DM, Clawson L, Diette GB. Spirometry in the supine position improves the detection of diaphragmatic weakness in patients with amyotrophic lateral sclerosis. Chest 2002; 121(2): 436– 442.

34. Kyriakides T, Angelini C, Schaefer J, Sacconi S, Siciliano G, Vilchez JJ et al. EFNS guidelines on the diag-nostic approach to pauci- or asymptomatic hyperCKemia. Eur J Neurol 2010; 17(6): 767– 773. doi: 10.1111/ j.1468- 1331.2010.03012.x.

35. Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes- possibility for newborn screening. J Inherit Metab Dis 2010; 33(1): 43– 50. doi: 10.1007/ s10545- 009- 9003- z.

36. Fernandez C, de Paula AM, Figarella- Branger D, Krahn M, Giorgi R, Chabrol B et al. Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia. Neurology 2006; 66(10): 1585– 1587.

37. Cardy CM, Potter T. The predictive value of creatine kinase, EMG and MRI in diagnosing muscle disease. Rheumatology (Oxford) 2007; 46(10): 1617– 1618.

38. Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S et al. Late- onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab 2013; 110(3): 290– 296. doi: 10.1016/ j.ymgme.2013.06.023.

39. Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N et al. Whole- body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord 2011; 21(11): 791– 799. doi: 10.1016/ j.nmd.2011.06.748

40. Horvath JJ, Austin SL, Case LE, Greene KB, Jones HN,Soher BJ et al. Correlation between quantitative whole- body muscle MRI and clinical muscle weakness in Pompe disease. Muscle Nerve. In press 2014. doi: 10.1002/ mus.24437.

41. Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid a- glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001; 47(8): 1378– 1383.

42. Hermans MM, van Leenen D, Kroos MA, Beesley CE,Van Der Ploeg AT, Sakuraba H et al. Twenty- two novel mutations in the lysosomal alpha- glucosidase gene (GAA) underscore the genotype- phenotype correlation in glycogen storage disease type II. Hum Mutat 2004; 23(1): 47– 56.

43. Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M et al. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat 2006; 27(10): 999– 1006.

44. Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ et al. Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis 2013; 8(1): 182. doi: 10.1186/ 1750- 1172- 8- 182.

45. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ et al. A randomized study of alglucosidase alfa in late- onset Pompe’s disease. N Engl J Med 2010; 362(15): 1396– 1406. doi: 10.1056/ NEJMoa0909859.

46. Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ,Barohn RJ et al. Consensus treatment recommendations for late- onset Pompe disease. Muscle Nerve 2012; 45(3): 319– 333. doi: 10.1002/ mus.22329.

47. Mellies U, Stehling F, Dohna- Schwake C, Ragette R,Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology 2005; 64(8): 1465– 1467.

48. Lachmann R, Schoser B. The clinical relevance of outcomes used in late- onset Pompe disease: can we do better? Orphanet J Rare Dis 2013; 8(1):160. doi: 10.1186/ 1750- 1172- 8- 160.

49. Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late- onset Pompe disease: a case series and literature review. Mol Genet Metab 2012; 106(3): 301– 309. doi: 10.1016/j.ymgme.2012.04.027.

50. Hirschhorn R, Reuser AJ. Glycogen storage dinase type II; acid-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds). The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill 2001, 3389–3420.