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Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.
Source: GARD Last updated on 05-01-20
There is limited information in the medical literature regarding the effects of pregnancy in individuals with paramyotonia congenita, as this condition is quite rare. One article described the experience of four women with this condition: one experienced worsening of her symptoms during pregnancy, whereas three did not. Another article on paramyotonia congenita and related conditions listed pregnancy as a possible trigger of muscle weakness in affected women. Though there is little information about pregnancy in women with paramyotonia congenita, general information about women affected by other myotonia conditions suggests symptoms may worsen during pregnancy, but quickly return to usual levels after pregnancy.
Last updated on 05-01-20
The Muscular Dystrophy Association's Web site provides more information about paramyotonia congenita. Click the link to read more.
Last updated on 04-27-20
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