Abstract
Myotonic dystrophy (dystrophia myotonica, DM) is a category of autosomal dominant muscle diseases characterized by myotonia and muscle weakness that also involve multiorgan system complications. There are two major forms currently recognized, with distinct genetic and clinical features: myotonic dystrophy type 1, abbreviated DM1, and previously known as Steinert’s disease, though physicians increasingly avoid this and other eponyms, and myotonic dystrophy type 2, abbreviated DM2.
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44.1 Electronic Supplementary Material
Grip myotonia elicited in the mother of a 6-year-old boy with myotonic dystrophy type 1 (DM1) by asking her to grip the examiner’s index and middle fingers and then release quickly. She had difficulty extending the fingers, revealing the dominant inheritance of the disease (AVI 38997 kb)
Electromyography (EMG) in myotonic dystrophy type 1 (DM1). There is spontaneous electrical activity with waxing and waning frequency and amplitude, which gives the characteristic sound of “dive bomber or departing motorcycle” (Courtesy of Dr. M. Kabiraj) (MPG 42684 kb)
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Salih, M.A.M., Kang, P.B. (2020). Myotonic Dystrophy and Periodic Paralyses. In: Salih, M.A. (eds) Clinical Child Neurology. Springer, Cham. https://doi.org/10.1007/978-3-319-43153-6_44
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DOI: https://doi.org/10.1007/978-3-319-43153-6_44
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