Τίτλος:
Extraocular muscle function in adult-onset Pompe disease tested by saccadic eye movements
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Glycogen storage disease type II (Pompe disease) affects mainly proximal skeletal muscles. Despite older histological evidence of extraocular muscle involvement, ocular motor palsies or other eye movement abnormalities are not considered part of the clinical picture.We investigated the dynamics of saccadic eye movements of five patients suffering from late-onset Pompe disease and compared their performance to that of age matched healthy controls. Horizontal rightward and leftward saccades were recorded binocularly, while subjects looked at LED targets placed at ±5°, 10° and 15° eccentricities.No differences in saccade amplitudes, peak velocities or durations were observed between controls and patients. More specifically, for 5° saccades, patients had a mean peak velocity of 146°/s with duration of 76. ms. For 10° and 15° saccades these values were 258°/s, 86. ms and 324°/s, 101. ms respectively, thereby lying well within one standard deviation of the mean of normal data. Moreover, saccadic amplitude accuracy was also unimpaired.These results indicate that patients with late onset Pompe disease perform fast and accurate horizontal saccades without evidence of muscle paresis or other ocular motor abnormalities. Reported histological abnormalities of extraocular muscles do not appear to have a phenotypic impact. © 2014 Elsevier B.V.
Συγγραφείς:
Anagnostou, E.
Kemanetzoglou, E.
Papadimas, G.
Kararizou, E.
Evdokimidis, I.
Περιοδικό:
Neuromuscular Disorders
Εκδότης:
Elsevier Ireland Ltd
Λέξεις-κλειδιά:
adult; adult onset Pompe disease; aged; Article; clinical article; controlled study; disease association; disease severity; extraocular muscle; eye movement disorder; eye movement monitor; female; glycogen storage disease type 2; human; infrared corneal reflection device; male; middle aged; muscle function; muscle strength; onset age; saccade amplitude; saccade duration; saccade peak velocity; saccadic amplitude accuracy; saccadic eye movement; visual system parameters; glycogen storage disease type 2; infrared radiation; oculography; pathophysiology; physiology; saccadic eye movement; severity of illness index, Adult; Age of Onset; Aged; Eye Movement Measurements; Female; Glycogen Storage Disease Type II; Humans; Infrared Rays; Male; Middle Aged; Oculomotor Muscles; Saccades; Severity of Illness Index
DOI:
10.1016/j.nmd.2014.08.004
