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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Lookup NU author(s): Professor Michela GuglieriORCiD, Dr Teresinha Evangelista, Professor Volker StraubORCiD



This is the authors' accepted manuscript of an article that has been published in its final definitive form by Lippincott Williams & Wilkins, 2016.

For re-use rights please refer to the publisher's terms and conditions.


Objective: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid a-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation.Methods: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples with reduced enzyme activity were subsequently investigated for GAA gene mutations.Results: Of 3,076 patients with DBS samples, 232 patients (7.6%) showed low GAA enzyme activity. Of these 232 patients, 55 (24%) presented with isolated hyperCKemia and 176 (76%) with hyperCKemia and LGMW. With both features present, 94% of the patients showed a low enzymatic activity. Mutational analysis found GAA gene mutations in 74 patients (2.4%); herein 70 patients were heterozygote for the common GAA gene splice-site mutation c.-32-13T>G. The most common clinical presentation in the confirmed Pompe cohort was a limb-girdle phenotype (85.3%) combined with ventilatory insufficiency (61%). Isolated hyperCKemia was found in 12%, while 2.7 had hyperCKemia and ventilatory insufficiency only.Conclusions: In a large cohort of unselected adult patients with hyperCKemia and/or LGMW, we found a prevalence of late-onset Pompe disease of 2.4%. Therefore, targeted screening of such a population should be encouraged in clinical practice.

Publication metadata

Author(s): Lukacs Z, Cobos PN, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2016

Volume: 87

Issue: 3

Pages: 295-298

Print publication date: 19/07/2016

Online publication date: 11/05/2016

Acceptance date: 05/04/2016

Date deposited: 08/11/2018

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/WNL.0000000000002758


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