Diseases Causing Periodic Paralysis

The genetically determined periodic paralyses are characterized by suddenly arising

abnormalities of the serum potassium concentration, which lead to transient inexcitability of
the muscle fiber membrane and there by to muscle dysfunction. They share the following
clinical features: Episodes of paralysis of sudden onset, of varying severity and duration,
which can last for hours to days. Usually, sparing of the facial and respiratory muscles. In
some patients, permanent muscle weakness later onin the course of the disease. There are
normokalemic, hyperkalemic, and hypokalemic types (Fig. 15.3). We will describe only the
last as a paradigmatic example.

Hypokalemic Periodic Paralysis Pathogenesis.

This is a disease of autosomal dominant inheritance caused by dysfunction of the

dihydropyridine-sensitive calcium channels in the transverse tubular system of muscle fibers.
Various underlying genetic defects are known. The disease has higher penetrance in men.

Clinical features.

The initial paralytic attacks occur between the ages of 5 and 30, usually in the second decade
of life. Their frequency is highly variable, ranging from daily attacks in some patients to a few
attacks per year in others. Each attack lasts from a few hours to an entire day.
Diagnostic evaluation.

A positive family history and a low serum potassium concentration during the attacks
generally point to the diagnosis. The CK is usually normal. The EMG during an attack reveals
only a few motor unit potentials on voluntary contraction, or none at all, and the summed
motor potential is small or absent. There are flat T and U waves in the ECG. Rare
symptomatic (nonfamilial) cases have been described in persons with thyrotoxicosis.

Treatment.

The prognosis of each individual attack is good. The frequency of attacks can be reduced by a
low-salt and low-carbohydrate diet and potassium supplementation. The intravenous
administration of potassium shortens the duration of an attack.