A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Linda E.M. van den Berg; Juna M. de Vries; Robert M. Verdijk; Ans T. van der Ploeg; Arnold J.J. Reuser; Pieter A. van Doorn

doi:10.1016/j.nmd.2010.11.016

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Linda E.M. van den Berg^*, Juna M. de Vries, Robert M. Verdijk, Ans T. van der Ploeg, Arnold J.J. Reuser, Pieter A. van Doorn

^*Corresponding author for this work

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Abstract

We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.

Original language	English
Pages (from-to)	232-234
Number of pages	3
Journal	Neuromuscular Disorders
Volume	21
Issue number	3
DOIs	https://doi.org/10.1016/j.nmd.2010.11.016
Publication status	Published - Mar 2011

Bibliographical note

Funding Information:
This study was supported by Prinses Beatrix Fonds (project no. OP07-08 ), ZonMw-the Netherlands Organisation for Health Research and Development (project no. 152001005 ) and by the European Union, 7th Framework Programme ‘Euclyd- a European Consortium for Lysosomal Storage Diseases’ [health F2/2008 grant agreement 201678 to ATvdP and AJJR].

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title = "A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers",

abstract = "We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.",

author = "{van den Berg}, {Linda E.M.} and {de Vries}, {Juna M.} and Verdijk, {Robert M.} and {van der Ploeg}, {Ans T.} and Reuser, {Arnold J.J.} and {van Doorn}, {Pieter A.}",

note = "Funding Information: This study was supported by Prinses Beatrix Fonds (project no. OP07-08 ), ZonMw-the Netherlands Organisation for Health Research and Development (project no. 152001005 ) and by the European Union, 7th Framework Programme {\textquoteleft}Euclyd- a European Consortium for Lysosomal Storage Diseases{\textquoteright} [health F2/2008 grant agreement 201678 to ATvdP and AJJR].",

year = "2011",

month = mar,

doi = "10.1016/j.nmd.2010.11.016",

language = "English",

volume = "21",

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AU - van den Berg, Linda E.M.

AU - de Vries, Juna M.

AU - Verdijk, Robert M.

AU - van der Ploeg, Ans T.

AU - Reuser, Arnold J.J.

AU - van Doorn, Pieter A.

N1 - Funding Information: This study was supported by Prinses Beatrix Fonds (project no. OP07-08 ), ZonMw-the Netherlands Organisation for Health Research and Development (project no. 152001005 ) and by the European Union, 7th Framework Programme ‘Euclyd- a European Consortium for Lysosomal Storage Diseases’ [health F2/2008 grant agreement 201678 to ATvdP and AJJR].

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N2 - We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.

AB - We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might contribute to the clinical heterogeneity in Pompe disease and the variable response to enzyme replacement therapy.

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A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Abstract

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