Familial hypokalemic periodic paralysis. 50-year follow-up of a large family
O. J. Buruma, G. T. Bots and L. N. Went
A large family with hypokalemic periodic paralysis was reexamined after 50
years. Two new cases were found in the third generation and 12 in the
fourth generation. This family now includes 28 affected patients in four
generations. The reexamination ascertained the presence of permanent muscle
weakness (PMW) in all investigated affected sibs. This fact, and the fact
that indications of the presence of PMW without paralytic attacks were
found in only one subject, is strong evidence that both are manifestations
of the same more or less fully penetrant dominant gene. A linkage study in
this family could not localize the gene on the human genome, but close
linkage with 25 genetic marker systems could be excluded.
