title: Fatigue: an important feature of late-onset Pompe disease.
abstract: OBJECTIVE
  To investigate the prevalence and severity of fatigue in adult patients with Pompe disease.
  
  
  METHODS
  The Fatigue Severity Scale (FSS) was assessed in an international population of 225 adults with Pompe disease, a metabolic disorder presenting as a slowly progressive proximal myopathy. The FSS scores were compared to those of healthy controls and the relationship between the level of fatigue and other patient characteristics was investigated.
  
  
  RESULTS
  The mean age of the participants was 47 (SD 13) years and the mean disease duration 11 (SD 8) years. 43% used a wheelchair and 46% had respiratory support, 29% needed both. 67% of the participants had a FSS score > or =5, indicating severe fatigue. The mean FSS score was 5.2 (SD 1.5), which was significantly higher than that of healthy controls (p < 0.001). Fatigue was not related to age, sex or disease duration. Patients who used a wheelchair or respiratory support were on average more fatigued than those who did not (p = 0.01). However, of the patients who did not use these aids, 59% also had a FSS score > or =5. FSS scores were highest among patients who reported a high frequency of sleep disorders, but patients who never experienced sleep difficulties were also fatigued (mean FSS score = 4.8).
  
  
  CONCLUSIONS
  Fatigue is highly prevalent among both mildly and severely affected adult patients with Pompe disease. The FSS appears a useful tool in assessing fatigue in Pompe disease.
authors.affiliation: Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Dr. Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.
authors.forename: Marloes L C
authors.initials: ML
authors.lastname: Hagemans
authors.forename: Sabine P M
authors.initials: SP
authors.lastname: van Schie
authors.forename: A Cecile J W
authors.initials: AC
authors.lastname: Janssens
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
authors.forename: Arnold J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005221:Fatigue / Q000453:epidemiology* / Q000209:etiology*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012189:Retrospective Studies; D012720:Severity of Illness Index