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Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
Mol Genet Metab 2013; 110(3):287-9MG

Abstract

OBJECTIVE

Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease.

METHODS

We used DBS (dried blood spots) to screen for Pompe disease in the two largest neuromuscular clinics and one of the main respiratory centers in Denmark. We selected patients with unclassified LGDM (limb-girdle muscular dystrophy), idiopathic elevation of creatine kinase, unexplained myopathy on muscle biopsy, unexplained restrictive respiratory insufficiency or unspecified myopathy for screening.

RESULTS

177 patients were found eligible for inclusion, and 103 (58.2%) patients accepted screening. Three patients with Pompe disease were identified with DBS, and subsequent genetic testing revealed known pathogenic mutations in the GAA gene. All three patients were found among 38 patients with unclassified LGMD (8%).

CONCLUSION

Our findings indicate that a DBS should be considered early in the diagnostic work-up of patients with an LGMD phenotype, to rule out Pompe disease. Retrospectively, all 3 patients presented with "red flags" more compatible with Pompe disease than LGMD, including; 1) mild non-dystrophic, myopathic features on muscle biopsy, 2) creatine kinase levels below 1000, and 3) disproportionate axial and respiratory muscle involvement in comparison with limb muscle involvement.

Authors+Show Affiliations

Neuromuscular Research Unit, Department of Neurology, University of Copenhagen, Copenhagen, Denmark. Electronic address: npreisler@hotmail.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24011652

Citation

Preisler, Nicolai, et al. "Late-onset Pompe Disease Is Prevalent in Unclassified Limb-girdle Muscular Dystrophies." Molecular Genetics and Metabolism, vol. 110, no. 3, 2013, pp. 287-9.
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(3):287-9.
Preisler, N., Lukacs, Z., Vinge, L., Madsen, K. L., Husu, E., Hansen, R. S., ... Vissing, J. (2013). Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Molecular Genetics and Metabolism, 110(3), pp. 287-9. doi:10.1016/j.ymgme.2013.08.005.
Preisler N, et al. Late-onset Pompe Disease Is Prevalent in Unclassified Limb-girdle Muscular Dystrophies. Mol Genet Metab. 2013;110(3):287-9. PubMed PMID: 24011652.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. AU - Preisler,Nicolai, AU - Lukacs,Zoltan, AU - Vinge,Lotte, AU - Madsen,Karen Lindhardt, AU - Husu,Edith, AU - Hansen,Regitze Sølling, AU - Duno,Morten, AU - Andersen,Henning, AU - Laub,Michael, AU - Vissing,John, Y1 - 2013/08/15/ PY - 2013/06/26/received PY - 2013/08/08/revised PY - 2013/08/08/accepted PY - 2013/9/10/entrez PY - 2013/9/10/pubmed PY - 2014/5/9/medline KW - CK KW - DBS KW - Dried blood spots KW - GAA KW - Glycogen storage disease KW - LGMD KW - Late-onset Pompe disease KW - Limb-girdle muscular dystrophy phenotype KW - Screening KW - acid alpha-glucosidase KW - creatine kinase KW - dried blood spots KW - limb-girdle muscular dystrophy SP - 287 EP - 9 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 110 IS - 3 N2 - OBJECTIVE: Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. We hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease. METHODS: We used DBS (dried blood spots) to screen for Pompe disease in the two largest neuromuscular clinics and one of the main respiratory centers in Denmark. We selected patients with unclassified LGDM (limb-girdle muscular dystrophy), idiopathic elevation of creatine kinase, unexplained myopathy on muscle biopsy, unexplained restrictive respiratory insufficiency or unspecified myopathy for screening. RESULTS: 177 patients were found eligible for inclusion, and 103 (58.2%) patients accepted screening. Three patients with Pompe disease were identified with DBS, and subsequent genetic testing revealed known pathogenic mutations in the GAA gene. All three patients were found among 38 patients with unclassified LGMD (8%). CONCLUSION: Our findings indicate that a DBS should be considered early in the diagnostic work-up of patients with an LGMD phenotype, to rule out Pompe disease. Retrospectively, all 3 patients presented with "red flags" more compatible with Pompe disease than LGMD, including; 1) mild non-dystrophic, myopathic features on muscle biopsy, 2) creatine kinase levels below 1000, and 3) disproportionate axial and respiratory muscle involvement in comparison with limb muscle involvement. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/24011652/Late_onset_Pompe_disease_is_prevalent_in_unclassified_limb_girdle_muscular_dystrophies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(13)00273-4 DB - PRIME DP - Unbound Medicine ER -