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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).
Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. [2] This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is alleviated by exercise.
In paramyotonia congenita, mutations in the muscle sodium channel gene prolong the channel’s opening, causing higher-than-normal muscle excitation. It is inherited in an autosomal dominant pattern, meaning it is produced by a defective gene contributed by one parent. See Causes/Inheritance for more.
Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.
Myotonia congenita is a rare genetic disorder that causes muscle stiffness and muscle growth. Symptoms can also include clumsiness, muscle cramps and weakness. Healthcare providers usually diagnose this condition during childhood with electromyograms, muscle biopsy and genetic testing.
In addition to dysfunctional anion channels seen in MC, mutations within cation channels, namely sodium ion channels, cause paramyotonia congenita (PMC), potassium-aggravated myotonia (PAM), and potassium-sensitive (hyperkalemic) periodic paralysis (HyperPP).
Paramyotonia congenita (PMC) and HyperPP are allelic disorders with some family members having clinical features of one or the other. PMC usually starts in the first decade of life with paramyotonia and attacks of weakness (in some patients), usually induced by exercise, cold, or potassium intake.
Paramyotonia congenita of Von Eulenburg 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.
Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.
Paramyotonia is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected gene as the SCN4A gene. This is involved in making a protein that controls movement of sodium into the muscle cells.