2019年9月5日 · 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. PC is also distinguished as it can ...

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.

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 (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 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 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 an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992).

Paramyotonia Congenita (PC) is a rare genetic disorder characterized by muscle stiffness that can worsen with repeated movement and exposure to cold. This condition, a type of non-dystrophic myotonia, affects skeletal muscles and can …