Abstract
A 31-year-old gentleman presented with gait imbalance since childhood. He was unable to run in school sports and playground and used to fall recurrently. Gradually he started developing difficulty in walking. He was lethargic and had subnormal intelligence in academics. He also had difficulty in gripping objects, mild slurring of speech, low appetite, and recurrent pain and swelling of legs (left > right). He has three maternal uncles who have similar problems. His mother died at the age of 50 years; she was bedridden and had loss of speech during last few years of her life. One of his brothers was also affected with similar problem who died because of head injury.
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References
Timchenko L, Monckton DG, Caskey CT. Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene. In: Seminars in cell biology. Elsevier; 1995.
Passos-Bueno MR, Cerqueira A, Vainzof M, Marie SK, Zatz M. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. J Med Genet. 1995;32(1):14–8.
Mathieu J, De Braekeleer M, Prévost C, Boily C. Myotonic dystrophy clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology. 1992;42(1):203.
McInnis MG. Anticipation: an old idea in new genes. Am J Hum Genet. 1996;59(5):973.
Mankodi A, Urbinati CR, Yuan Q-P, Moxley RT, Sansone V, Krym M, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet. 2001;10(19):2165–70.
Steinbach P, Gläser D, Vogel W, Wolf M, Schwemmle S. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet. 1998;62(2):278–85.
Kamsteeg E-J, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, et al. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet. 2012;20(12):1203.
Nadaj-Pakleza A, Łusakowska A, Sułek-Piątkowska A, Krysa W, Rajkiewicz M, Kwieciński H, et al. Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients. Folia Morphol (Warsz). 2011;70(2):121–9.
Ranum LP, Day JW. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep. 2002;2(5):465–70.
Streib EW, Sun SF. Distribution of electrical myotonia in myotonic muscular dystrophy. Ann Neurol. 1983;14(1):80–2.
Maddison P. Neuromyotonia. Clin Neurophysiol. 2006;117(10):2118–27.
Logigian E, Martens W, Moxley RT, McDermott M, Dilek N, Wiegner A, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010;74(18):1441–8.
Roses AD, Butterfield DA, Appel SH, Chestnut DB. Phenytoin and membrane fluidity in myotonic dystrophy. Arch Neurol. 1975;32(8):535–8.
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Kumar, H., Basu, P. (2024). Myotonic Dystrophy. In: Oli, K.K., Shrestha, G.S., Ojha, R., Pal, P.K., Pandey, S., Das, B. (eds) Case-based Approach to Common Neurological Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-99-8676-7_19
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DOI: https://doi.org/10.1007/978-981-99-8676-7_19
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