Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy

In conclusion, we provide further evidences that extramuscular findings such as epilepsy, speech delay, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in FSHD is therefore not constant. Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD.

from the European Journal of Pediatric Neurology

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Posted on July 19, 2011, in Research and tagged , , , , . Bookmark the permalink. Leave a comment.

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