Article

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

Erasmus MC, University Medical Center, Department of Neurology, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands.
Neuromuscular Disorders (impact factor: 2.8). 01/2009; 19(2):113-7. DOI:10.1016/j.nmd.2008.11.007 pp.113-7
Source: PubMed

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.

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Keywords

16 patients
 
disease progression
 
group level
 
individual differences
 
late-onset Pompe disease
 
longitudinal data
 
mean duration
 
muscle strength
 
progression varied
 
progressive course
 
proximal muscle weakness progressed
 
pulmonary dysfunction
 
pulmonary function
 
pulmonary function deteriorated
 
range 4-29 years
 
regular monitoring
 
remaining one third
 
skeletal muscle strength
 
ventilator dependent
 
wheelchair dependency