paramyotonia congenita of Von Eulenburg

A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3.

Signs and symptoms

• Congenital hip dislocation
• Muscle stiffness
• Strabismus
• Myotonia
• Stridor
• Myopathy
• Difficulty climbing stairs
• Muscle spasm
• Paralysis
• Nystagmus

Also known as: Eulenburg disease; PMC; Von Eulenburg paramyotonia congenita; myotonia congenita intermittens; paralysis periodica paramyotonica