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The natural course of non–classic Pompe’s disease; a review of 225 published cases

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Abstract

Pompe’s disease is a neuromuscular disorder caused by deficiency of lysosomal acid α–glucosidase. Recombinant human α– glucosidase is under evaluation as therapeutic drug. In light of this development we studied the natural course of cases not fitting the definition of classic infantile Pompe’s disease. Our review of 109 reports including 225 cases shows a continuous spectrum of phenotypes. The onset of symptoms ranged from 0 to 71 years. Based on the available literature, no criteria to delineate clinical sub–types could be established.

A common denominator of these cases is that first symptoms were related to or caused by muscle weakness. In general, patients with a later onset of symptoms seemed to have a better prognosis. Respiratory failure was the most frequent cause of death. CK, LDH, ASAT, ALAT and muscle glycogen levels were frequently but not always elevated. In most cases a muscle biopsy revealed lysosomal pathology, but normal muscle morphology does not exclude Pompe’s disease. In 10% of the cases in which the enzyme assay on leukocytes was used, a normal α–glucosidase activity was reported.

Data on skeletal muscle strength and function, pulmonary function, disability, handicap and quality of life were insufficiently reported in the literature. Studies of non–classic Pompe’s disease should focus on these aspects, before enzyme replacement therapy becomes generally available.

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Abbreviations

ASAT:

Aspartate aminotransferase

ALAT:

Alanine aminotransferase

CK:

Creatine kinase

LDH:

Lactate dehydrogenase

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Authors and Affiliations

  1. Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Dr.Molewaterplein 60, 3015, GJ Rotterdam, The Netherlands

    L. P. F. Winkel, M. L. C. Hagemans & A. T. Van der Ploeg MD, PhD

  2. Department of Clinical Genetics, Dr.Molewaterplein 50, 3015, GE Rotterdam, The Netherlands

    L. P. F. Winkel & A. J. J. Reuser

  3. Department of (Paediatric) Neurology, Dr.Molewaterplein 50, 3015, GE Rotterdam, The Netherlands

    P. A. van Doorn & M. C. B. Loonen

  4. Department of Biostatistics and Epidemiology, Dr.Molewaterplein 50, 3015, GE Rotterdam, The Netherlands

    W. J. C. Hop

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  1. L. P. F. Winkel
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  7. A. T. Van der Ploeg MD, PhD
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Winkel, L.P.F., Hagemans, M.L.C., van Doorn, P.A. et al. The natural course of non–classic Pompe’s disease; a review of 225 published cases. J Neurol 252, 875–884 (2005). https://doi.org/10.1007/s00415-005-0922-9

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  • DOI: https://doi.org/10.1007/s00415-005-0922-9

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