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A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers.
Neuromuscul Disord 2011; 21(3):232-4ND

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.

Authors+Show Affiliations

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. l.vandenberg@erasmusmc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21183346

Citation

van den Berg, Linda E M., et al. "A Case of Adult Pompe Disease Presenting With Severe Fatigue and Selective Involvement of Type 1 Muscle Fibers." Neuromuscular Disorders : NMD, vol. 21, no. 3, 2011, pp. 232-4.
van den Berg LE, de Vries JM, Verdijk RM, et al. A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers. Neuromuscul Disord. 2011;21(3):232-4.
van den Berg, L. E., de Vries, J. M., Verdijk, R. M., van der Ploeg, A. T., Reuser, A. J., & van Doorn, P. A. (2011). A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers. Neuromuscular Disorders : NMD, 21(3), pp. 232-4. doi:10.1016/j.nmd.2010.11.016.
van den Berg LE, et al. A Case of Adult Pompe Disease Presenting With Severe Fatigue and Selective Involvement of Type 1 Muscle Fibers. Neuromuscul Disord. 2011;21(3):232-4. PubMed PMID: 21183346.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers. 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, Y1 - 2010/12/22/ PY - 2010/07/22/received PY - 2010/10/18/revised PY - 2010/11/30/accepted PY - 2010/12/25/entrez PY - 2010/12/25/pubmed PY - 2011/6/11/medline SP - 232 EP - 4 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 21 IS - 3 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. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/21183346/A_case_of_adult_Pompe_disease_presenting_with_severe_fatigue_and_selective_involvement_of_type_1_muscle_fibers_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(10)00692-9 DB - PRIME DP - Unbound Medicine ER -