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PubMed1979

Biphasic periodic paralysis.

A young man with episodes characteristic of familial normokalemic periodic paralysis was restudied after a change in the nature of his attacks. He now has spontaneously occurring and provokable episodes of both hyperkalemic and hypokalemic periodic paralyses that are superimposed on a persistent myopathy. Hypokalemia seems to be associated with facilitated entry of glucose and potassium into muscles, whereas resistance to glucose and potassium entry accompanies hyperkalemia. The possibility that episodes of both hypokalemic and hyperkalemic weaknesses can occur in one person should be considered in pathogenic postulates regarding periodic paralysis.

Adult↗
PubMed1991

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, paramyotonia congenita, myotonia coexists with cold-induced paralysis. Electrophysiological studies have demonstrated variant-specific abnormalities in skeletal muscle membrane sodium conductance. We tested the hypothesis that hyperkalemic periodic paralysis (without myotonia) and paramyotonia congenita are tightly linked to the tetrodotoxin-sensitive adult skeletal muscle sodium channel gene on chromosome 17q23-25 in two large pedigrees. The DNA polymorphisms detected in the growth hormone skeletal muscle sodium channel complex (GH1-SCN4A) and by flanking polymorphic markers (D17S74 and D17S40) demonstrated no recombinants between the disease phenotypes and this complex. Phenotypic variation in the hereditary hyperkalemic periodic paralyses may result from allelic heterogeneity at the tetrodotoxin-sensitive adult skeletal muscle sodium channel locus.

Adult↗