Ocular motor function in relation to gross motor function in congenital and childhood myotonic dystrophy type 1.

• Abstract. Purpose: To assess ocular motor function in congenital and childhood myotonic dystrophy type 1 (DM1) and correlate the results with cytosine-thymine-guanine (CTG) repeat size, severity of the disease, myotonia and skeletal muscle function. Methods: A cross-sectional investigation into strabismus, versions/ductions, saccades, smooth pursuit movements and ptosis was performed on 49 individuals with a confirmed diagnosis of DM1, all diagnosed at <18 years of age and with >40 CTG expansion repeats. The results were correlated with myotonia as well as Hammersmith motor ability scale (HMA). In addition, the ocular results were compared to results from an age and- sex-matched control group. Results: Ocular motor abnormalities were seen in 82%; the most frequent findings were altered conjugate eye movements and 'pseudoptosis' while blepharoptosis was rare. Strabismus was most common in the severe congenital subgroup, with a frequency 14 times higher than in the control group. Positive correlations were seen between CTG repeat size and affected eyelids, and between myotonia and affected eyelids; both these findings were most prominent in the mild congenital group. CTG repeat size was also correlated with version/duction defects, and most obviously in the childhood group. Low HMA scores were associated with high occurrence of strabismus and version/duction defects. Conclusion: Abnormalities of ocular motor function are frequently present. CTG repeat size correlates positively with altered versions/ductions and eyelid pathology. Gross motor dysfunction correlates with strabismus and defect versions/ductions, and eyelid pathology indicates involvement of myotonia.

Ämnesord

SAMHÄLLSVETENSKAP  -- Annan samhällsvetenskap -- Övrig annan samhällsvetenskap (hsv//swe)

SOCIAL SCIENCES  -- Other Social Sciences -- Other Social Sciences not elsewhere specified (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oftalmologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Ophthalmology (hsv//eng)

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