National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Paramyotonia Congenita is not the name you expected.
Paramyotonia congenita (PMC) is a rare non-progressive genetic disorder that affects the skeletal muscles. The disorder typically begins in infancy or early childhood. Affected individuals experience spells of muscle stiffness or when the muscles do not relax after contracting (myotonia). Symptoms can be triggered by exposure to the cold or after physical activity. The stiffness most commonly affects the muscles in the neck, face, arms and hands, however it can occur in the lower back and the muscles used for breathing. The stiffness of the muscles can get worse with repeated movements. There are also intermittent periods of a type of muscle weakness in which there is no muscle tone (flaccid paresis). This condition does not necessarily coincide with exposure to cold temperatures or myotonia. There is generally no wasting (atrophy) of muscles; however, there is often increase in bulk (hypertrophy) of muscles with this disorder. There is no cure to PMC; however, with the proper management of diet, lifestyle and medication, patients can lead normal lives. PMC is an autosomal dominant genetic condition caused by a mutation in the muscle sodium channel gene SCN4A.
PMC is classified as a form of periodic paralyses, a group of muscle disorders characterized by irregular episodes of muscle weakness or stiffness.
PMC was first discussed in 1886 by von Eulenburg. It is considered the first recognized temperature-sensitive condition in humans.
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Muscular Dystrophy Association
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Periodic Paralysis Association
- 155 West 68th Street
- Apt. 1732
- New York, NY 10023
- Tel: (407)339-9499
- Fax: (407)339-9499
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- Website: http://www.periodicparalysis.org
Periodic Paralysis International
- 2235 B 36th St. SW
- Calgary, Alberta, T3E 2Z3
- Tel: 4032447213
- Website: http://www.hkpp.org
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 6/16/2016
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