Paramyotonia Congenita (PMC)

Sponsored diagnostic testing programs for Paramyotonia Congenita (PMC)

Paramyotonia Congenita (PMC) is a rare genetic neuromuscular disorder marked by episodes of muscle stiffness that worsen with cold or repeated activity. Symptoms often affect the face, neck, and limbs and may progress to transient weakness. Genetic testing helps confirm the diagnosis by identifying pathogenic variants in key skeletal muscle ion-channel genes.

1 program found for Paramyotonia Congenita (PMC)

Programs

1 program

Uncovering Periodic Paralysis

Sponsored by
Xeris Pharmaceuticals

Uncovering Periodic Paralysis Panel

The Uncovering Periodic Paralysis Program offers no-cost genetic testing and genetic counseling for individuals with episodic muscle weakness or temporary paralysis often triggered by common factors associated with primary hyperkalemic or hypokalemic periodic paralysis. This testing program is sponsored by Xeris Pharmaceuticals.

Neurology
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Performing labPrevention Genetics