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Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

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Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. / Preisler, Nicolai; Lukacs, Zoltan; Vinge, Lotte; Madsen, Karen Lindhardt; Husu, Edith; Hansen, Regitze Sølling; Duno, Morten; Andersen, Henning; Laub, Michael; Vissing, John.

In: MOL GENET METAB, Vol. 110, No. 3, 01.11.2013, p. 287-9.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Preisler, N, Lukacs, Z, Vinge, L, Madsen, KL, Husu, E, Hansen, RS, Duno, M, Andersen, H, Laub, M & Vissing, J 2013, 'Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies', MOL GENET METAB, vol. 110, no. 3, pp. 287-9. https://doi.org/10.1016/j.ymgme.2013.08.005

APA

Preisler, N., Lukacs, Z., Vinge, L., Madsen, K. L., Husu, E., Hansen, R. S., Duno, M., Andersen, H., Laub, M., & Vissing, J. (2013). Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. MOL GENET METAB, 110(3), 287-9. https://doi.org/10.1016/j.ymgme.2013.08.005

Vancouver

Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. MOL GENET METAB. 2013 Nov 1;110(3):287-9. https://doi.org/10.1016/j.ymgme.2013.08.005

Bibtex

@article{17904b16fbd04691bc915c69d90f8b7f,
title = "Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies",
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.",
keywords = "Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Creatine Kinase, Delayed Diagnosis, Denmark, Female, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Phenotype, Retrospective Studies, Young Adult, alpha-Glucosidases",
author = "Nicolai Preisler and Zoltan Lukacs and Lotte Vinge and Madsen, {Karen Lindhardt} and Edith Husu and Hansen, {Regitze S{\o}lling} and Morten Duno and Henning Andersen and Michael Laub and John Vissing",
note = "{\textcopyright} 2013 Elsevier Inc. All rights reserved.",
year = "2013",
month = nov,
day = "1",
doi = "10.1016/j.ymgme.2013.08.005",
language = "English",
volume = "110",
pages = "287--9",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",

}

RIS

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

N1 - © 2013 Elsevier Inc. All rights reserved.

PY - 2013/11/1

Y1 - 2013/11/1

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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Age of Onset

KW - Aged

KW - Aged, 80 and over

KW - Creatine Kinase

KW - Delayed Diagnosis

KW - Denmark

KW - Female

KW - Glycogen Storage Disease Type II

KW - Humans

KW - Male

KW - Middle Aged

KW - Muscular Dystrophies, Limb-Girdle

KW - Mutation

KW - Phenotype

KW - Retrospective Studies

KW - Young Adult

KW - alpha-Glucosidases

U2 - 10.1016/j.ymgme.2013.08.005

DO - 10.1016/j.ymgme.2013.08.005

M3 - SCORING: Journal article

C2 - 24011652

VL - 110

SP - 287

EP - 289

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 3

ER -