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Myotonic Dystrophy: A Rare Autosomal Dominant Disorder

Vikram Shah, Secondary DNBPGY02, Emergency Medicine, Max Super specialty Hospital, Shalimar Bagh, New Delhi, Delhi 110088, India. , Vikram Shah1 , Kishalay Datta2 , Sarat Naidu3 , Balasubramanyam E.V4 , Sonal Singh4 , Jitesh K. Bhandarkar3

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Indian Journal of Emergency Medicine 3(2):p 252-254, Jul-Dec 2017. | DOI: http://dx.doi.org/10.21088/ijem.2395.311X.3217.13

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Abstract

Myotonic Muscular Dystrophy is inherited form of an autosomal disease which may include cataract, low I.Q., and heart conduction problems. In men their may be early balding and an inability to have children and gastric tract problems are common. It is a form of muscular dystrophy that affects muscles and many other organs in the body. Myotonia means an inability to relax muscles at will, which makes it difficult to relax the fingers after a firm hand grip. Muscular Dystrophy means progressive muscle degeneration leading to weakness and shrinkage of muscle tissues. It is caused by CTG triplet repeat expansion in none coding region of DMPK gene on chromosome 19q13.3, encoding myotonin. Myotonin is required for inter cellular conduction.

Keywords: Myotonic Dystrophy; Myotonia; Autosomal Dominant Disorder; Dmpk Gene; Myotonin. 

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DOI: http://dx.doi.org/10.21088/ijem.2395.311X.3217.13

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