Unit:
Department of Physical Education & Sport ScienceLibrary of the School of Physical Education and Sport Science
Supervisors info:
Γεράσιμος Τερζής, Καθηγητής, Σχολή Επιστήμης Φυσικής Αγωγής & Αθλητισμού, Εθνικό & Καποδιστριακό Πανεπιστήμιο Αθηνών
Original Title:
Δοκιμασίες ελέγχου λειτουργικής ικανότητας ως εναλλακτική της εξάλεπτης βάδισης σε ασθενείς με νόσο Pompe ενήλικης μορφής
Translated title:
Motor function tests as an alternative to six-minute walking test in patients with late-onset Pompe disease
Summary:
Pompe is a neuromuscular disorder characterized by muscle weakness of the lower limbs and respiratory insufficiency. It is caused by mutations of the GAA gene, leading to a deficiency of the lysosomal enzyme acid a-glucosidase. This enzyme manages the breakdown of glycogen to glucose, the deficiency of which leads to a build-up of glycogen in the cells causing malfunctions. For long-term clinical follow-up, clinicians use many tests to assess patients motor function. The most important is the six-minute walking test. The patient walks palindromic at twenty meters distance and is assessed the total distance that he walked. Individuals with severe muscle weakness in the lower limbs cannot bear the test. This study aimed to investigate the correlation between the 6-minute walking test and three shorter in time motor function tests in patients with late-onset Pompe disease. The selected tests were the 10 meters walking test, timed up and go, and the 4-stair climb test. A total of 15 patients with late-onset Pompe disease, aged between 14 to 56 years (body height 168,67±9,66cm and body mass 71,59±15,58kg) took part. Pearson's correlation coefficient r, with a significance level of p<0.05 was used for statistical analysis of the data. All tests showed a significant correlation with the six-minute walk (p<0.05), with the 10-meter walking test showing the highest correlation with r=0.94, p<0.05. This result suggests that the 10-meter walking test can be used as an alternative to the six-minute walking in patients with late-onset Pompe disease. A recent study nevertheless stated that the 10-meter test is not a good indicator of functional capacity in these patients.
Main subject category:
Education - Sport science
Keywords:
muscle weakness, glycogen, lysosomes, enzyme replacement therapy
