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Sep 5, 2019 · 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 (as well as hyperkalemic periodic paralysis and the potassium-aggravated myotonias) is caused by mutations in a sodium channel, SCN4A. The phenotype of patients with these mutations is indicated in Table 1.
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.
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Paramyotonia congenita causes episodes of muscle stiffness and weakness — mostly in the face, neck and upper extremities — that can last from minutes to hours. The stiffness is sensitive to exercise and cold.
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.
Paramyotonia congenita (PMC) is a type of periodic paralysis that causes people to have attacks of muscle stiffness (myotonia) when they are active, such as when exercising. Normally, myotonia happens after exercising, not during it.
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.
