Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy
https://doi.org/10.17650/2222-8721-2015-5-3-62-68
Abstract
Pompe disease, also known as type II glycogenosis, is a rare autosomal recessive disease. Two main types include early-onset Pompe disease – severe, rapidly progressive multisystem deficency, manifestating on the first year of life, and late-onset Pompe disease (LOPD), with the age of onset ranging from the first year till late adulthood. Both types are caused by the deficiency of lysosomal acid-α-glucosidase due to the mutations in GAA gene, leading to an excessive storage of glycogen in body cells. LOPD is a slowly progressive disease with a primary lesion of a skeletal, respiratory and cardiac muscles, affected in different grade, and moderately elevated сreatine kinase. It is often difficult to perform differential diagnosis with a large group of hereditary and non-hereditary myopathies. We present a case report of LOPD with signs of limb-girdle muscular dystrophy.
About the Authors
S. A. Kurbatov
Regional Medical Diagnostic Centre; Moskovsky Prospect 11, 394026, Voronezh, Russia
LLT “Diagnostika-plus”; Voronezh, Russia
Russian Federation
Russian Federation
S. S. Nikitin
Research Institute of Pathology and Pathophysiology, Russian Academy of Medical Sciences, Moscow, Russia
Russian Federation
Russian Federation
E. Yu. Zakharova
Russian Research Center for Medical Genetics RAMNS, Moskvorechye 1, 115478, Moscow, Russia
Russian Federation
Russian Federation
References
1. Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В. Болезнь Помпе с поздним началом: первое клиническое описание в России. Нервно- мышечные болезни 2014;(1):62–8. [Nikitin S.S., Kovalchuk M.O., Zakharova E.Yu., Tsivileva V.V. Pompe disease with late onset: the first clinical description in Russia. Neuromuscilar Diseases 2014;(1):62–8. (In Russ.)].
2. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 2009;40(1): 149–60.
3. van der Beek N.A., de Vries J.M., Hagemans M.L. et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 2012;7:88.
4. Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8: 267–288.
5. Rivier F., Meyer P., Walther-Louvie U. et al. Врожденные мышечные дистрофии: классификация и диагностика. Нервно-мышечные болезни 2014;(1):6–20. [Rivier F., Meyer P., Walther-Louvie U. et al. Congenital muscular dystrophies: classification and diagnostics. Nervno-mishechnye bolezni = Neuromuscular Diseases 2014;(1):6–20. (In Russ.)].
6. Hirschhorn R., Reuser A.J. Glycogen storage disease type II: acid a-glucosidase (acid maltase) deficiency. By eds.: D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio. The online metabolic and molecular bases of inherited disease, chap. 135. Scriver’s OMMBID Website. http://www.ommbid.com. Accessed January 23, 2008.
7. Claude Desnuelle. Поздняя форма болезни Помпе: диагностические и терапевтические подходы. Нервно-мышечные болезни 2012;(3):20–32. [Claude Desnuelle. Forme tardive de la maladie de Pompe: actualités diagnostiques et thérapeutiques. Nervnomyshechnye bolezni = Neuromuscular disease 2012;(3):20–32 (In Russ.)].
8. van Der Ploeg A.T., Barhon R., Carlson L. et al. Open-label extension study following the late onset treatment study (LOTS) of alglucosidase alpha. Mol Genet Metab 2012;107:456–61.
9. Toscano A., Schoser B. Enzyme replacement therapy in lateonset Pompe disease: a systematic literature review. J Neurol 2013;260:951–9.
10. Spada M., Porta F. Vercelli disease in patients with paucisymptomatic Metab 2013;109:171–3.
11. Gutiérrez-Rivas E., Bautista J., Vílchez J.J. et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. Neuromuscul Disord 2015;25(7):548–53.
12. Preisler N., Lukacs Z., Vinge L. et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab 2013;110:287–9.
13. Winkel L.P., Hagemans M.L., van Doorn P.A. et al. The natural course of non–classic Pompe’s disease; a review of 225 published cases. J Neurol 2005;252(8):875–84.
14. Hobson-Webb L.D. Kishnani P.S. How common is misdiagnosis in late-onset Pompe disease? Muscle Nerve 2012;45(2):301–2.
15. Straub V., Carlier P.G., Mercuri E. TREATNMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI 25–26 February 2011, Rome, Italy. Neuromuscul Disord 2012;1(22, Suppl 2):42–53.
16. http://neuromuscular.wustl.edu/pathol/diagrams/musclemri.htm.
17. Ten Dam L., Van der Kooi A.J., Van Wattingen M. et al. Reliability and accuracy of skeletal muscle imaging in limbgirdle muscular dystrophies. Author response. Neurology 2013;80(24):2276–7.
18. Catteruccia M., Fattori F., Codemo V. et al. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013;23(3):229–38.
19. Sandell S.M., Mahjneh I., Palmio J. et al. 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D. Eur J Neurol 2013;20(12):1553–9.
20. http://neuromuscular.wustl.edu/musdist/lg.html#ad/
21. http://neuromuscular.wustl.edu/musdist/pe-eom.html#fsh/
22. http://neuromuscular.wustl.edu/mother/activity.html#prom/
23. Chien Y.H., Chiang S.C., Zhang X.K. et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan Screening Program. Pediatrics 2008;122:39–45.
24. Matern D., Gavrilov D., Oglesbee D. et al. Newborn screening for lysosomal storage disorders. Semin Perinatol 2015;39(3):206–16.
Review
For citations:
Kurbatov S.A., Nikitin S.S., Zakharova E.Yu. Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy. Neuromuscular Diseases. 2015;5(3):62-68. (In Russ.) https://doi.org/10.17650/2222-8721-2015-5-3-62-68
Views:
1715
Email this article 