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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Congenital myotonic dystrophy: report of one case
Yi-Hsin Liao1, Whey-Chen Sue, Da-Ru Jang
1Department of Pediatrics, Taipei Municipal Women's and Children's Hospital, No. 12, Fu-Zhou Road, Taipei, Taiwan.
Abstract:
We report a laboratory-confirmed pediatric case of congenital myotonic dystrophy (CMD) in Taiwan. A 5-year-old girl presented in our neurological clinic with the chief complaints of developmental delay and slowness in learning. Clinical examination, intelligence tests, and developmental examinations revealed myopathic facial weakness, passivity and delayed cognitive development. Past history review showed neonatal hypotonia, feeding difficulty with cyanosis, and poor activity. Neonatal studies only revealed subgaleal hematoma and subarachnoid hemorrhage with mild degree right side intraventricular hemorrhage. Current neurological examination disclosed percussion myotonia and myotonia as poor muscle relaxation after forceful handgrip. CMD was confirmed by electromyography study and DNA analysis. The patient's mother, though minimally affected, had similar laboratory results. CMD affects children in both motor and cognitive function; the diagnosis should be entertained in developmentally delayed children with subtle neurological signs, even without strong family history.
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