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Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.
Neuromuscul Disord 2009; 19(2):113-7ND

Abstract

To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and skeletal muscle strength in 16 patients whose symptoms had started in childhood or adulthood. The mean duration of follow-up was 16 years (range 4-29 years). During the follow-up period, eight patients (50%) became wheelchair bound and three (19%) became ventilator dependent. At a group level, pulmonary function deteriorated by 1.6% per year, and proximal muscle weakness progressed gradually. At the individual level, however, the rate and extent of progression varied highly between patients. In two thirds of patients, pulmonary function and muscle strength declined simultaneously and to the same extent. The remaining one third of patients showed a variable, sometimes rapidly progressive course, leading to early respirator or wheelchair dependency. These individual differences, especially in pulmonary dysfunction, indicate the need for regular monitoring every 6-12 months depending on the rate of disease progression.

Authors+Show Affiliations

Erasmus MC, University Medical Center, Department of Neurology, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands. n.beek@erasmusmc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

19084399

Citation

Van der Beek, N A M E., et al. "Rate of Disease Progression During Long-term Follow-up of Patients With Late-onset Pompe Disease." Neuromuscular Disorders : NMD, vol. 19, no. 2, 2009, pp. 113-7.
Van der Beek NA, Hagemans ML, Reuser AJ, et al. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord. 2009;19(2):113-7.
Van der Beek, N. A., Hagemans, M. L., Reuser, A. J., Hop, W. C., Van der Ploeg, A. T., Van Doorn, P. A., & Wokke, J. H. (2009). Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscular Disorders : NMD, 19(2), pp. 113-7. doi:10.1016/j.nmd.2008.11.007.
Van der Beek NA, et al. Rate of Disease Progression During Long-term Follow-up of Patients With Late-onset Pompe Disease. Neuromuscul Disord. 2009;19(2):113-7. PubMed PMID: 19084399.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. AU - Van der Beek,N A M E, AU - Hagemans,M L C, AU - Reuser,A J J, AU - Hop,W C J, AU - Van der Ploeg,A T, AU - Van Doorn,P A, AU - Wokke,J H J, Y1 - 2008/12/11/ PY - 2008/07/11/received PY - 2008/10/30/revised PY - 2008/11/11/accepted PY - 2008/12/17/entrez PY - 2008/12/17/pubmed PY - 2009/5/5/medline SP - 113 EP - 7 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 19 IS - 2 N2 - To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and skeletal muscle strength in 16 patients whose symptoms had started in childhood or adulthood. The mean duration of follow-up was 16 years (range 4-29 years). During the follow-up period, eight patients (50%) became wheelchair bound and three (19%) became ventilator dependent. At a group level, pulmonary function deteriorated by 1.6% per year, and proximal muscle weakness progressed gradually. At the individual level, however, the rate and extent of progression varied highly between patients. In two thirds of patients, pulmonary function and muscle strength declined simultaneously and to the same extent. The remaining one third of patients showed a variable, sometimes rapidly progressive course, leading to early respirator or wheelchair dependency. These individual differences, especially in pulmonary dysfunction, indicate the need for regular monitoring every 6-12 months depending on the rate of disease progression. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/19084399/Rate_of_disease_progression_during_long_term_follow_up_of_patients_with_late_onset_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(08)00706-2 DB - PRIME DP - Unbound Medicine ER -