Primary periodic paralyses

Finsterer J. Acta Neurol Scand 2008: 117: 145-158.
Objective - To review the current knowledge about primary periodic
paralyses (PPs). Results - Periodic paralyses are a heterogeneous group
of disorders, clinically characterized by episodes of flaccid muscle
weakness, occurring at irregular intervals. PPs are divided into primary
(hereditary) and secondary (acquired) forms of which the secondary PPs
are much more common than the primary PPs. Primary PPs are due to
mutations in genes encoding for subunits of channel proteins of the
skeletal muscle membrane, such as the muscular sodium, potassium or
calcium channels, or the SCL4A1 protein. Primary PPs include entities
such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita
von Eulenburg, Andersen`s syndrome, thyrotoxic PP, distal renal
tubular acidosis, X-linked episodic muscle weakness syndrome and
congenital myasthenic syndromes. Attacks of weakness or myotonia
may be triggered or enhanced by vigorous exercise, cold, potassium-rich
food, emotional stress, drugs such as glucocorticosteroids, insulin or
diuretics, or pregnancy. Depending on the pathomechanism, episodes of
weakness may respond to mild exercise, ingestion of potassium,
carbohydrates, salbutamol, calcium gluconate, thiazide diuretics,
carboanhydrase inhibitors, such as acetazolamide or dichlorphenamine,
and episodes may be prevented by avoidance of potassium-rich food, or
drugs, which increase serum potassium. Conclusion - This review
presents and discusses current knowledge and recent advances in the
etiology, molecular genetics, genotype-phenotype correlations,
pathogenesis, diagnosis and treatment of primary PPs.

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