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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 (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 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 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 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 congenital (PMC) 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 congenita of Von Eulenburg. Suggest an update. Disease definition. A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.
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.