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 ≥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 ≥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). Conclusion 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.

Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neoPompe Disease Mice

“…10B). This site was chosen for illustration because Pompe patients typically develop respiratory signs, as well as “floppy baby” motor signs and at older ages, debilitating fatigue (38–40). These manifestations might be the consequence purely of the skeletal and cardiac muscle abnormalities, but could possibly also result from spinal cord neuron malfunction.…”

Prevalence of Fatigue, Pain, and Affective Disorders in Adults With Duchenne Muscular Dystrophy and Their Associations With Quality of Life

“…21,22 A score !4 is considered indicative of significant fatigue. 23 We defined the presence of fatigue as a score !4; scores between 4 and 5 were defined as intermediate, and scores !5 as severe fatigue. 24 Pain was assessed using the single-item ratings of pain of the Medical Outcomes Study 36-Item Short-Form Health Survey, 25 which asks about the presence of bodily pain in the last 4 weeks, with scores from 1 (no pain) to 6 (very serious pain).…”

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease

“…A high prevalence of fatigue was found in Pompe disease, GBS, post-poliomyelitis, hereditary polyneuropathy, myasthenia gravis and myotonic dystrophy [38, 40, 48, 53, 64, 70]. The prevalence of severe fatigue in these disorders was estimated to be similar to that in patients with multiple sclerosis [50].…”