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Myotonia Congenita Jesse Russell

Myotonia Congenita

Jesse Russell

Published September 18th 2012
ISBN : 9785512724545
Paperback
164 pages
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 About the Book 

High Quality Content by WIKIPEDIA articles! Congenital myotonia (also myotonia congenita) is a genetic, neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is congenital, meaning that it is present from birth.MoreHigh Quality Content by WIKIPEDIA articles! Congenital myotonia (also myotonia congenita) is a genetic, neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is congenital, meaning that it is present from birth. Amongst other problems, it causes delayed relaxation of the muscles (myotonia) and rigidity. The disorder is caused by mutations in the part of an ion channel gene responsible for shutting off electrical excitation in the muscles, causing muscle fiber membranes to have an unusually exaggerated response to stimulation (hyperexcitability). Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), sluggishness of the muscles, transient weakness in some mutations, pain, and cramping. The disorder is caused by a genetic mutation involving the chloride channel of the muscles.