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Severe prognosis in a large family with hypokalemic periodic paralysis
Author(s) -
Caciotti Anna,
Morrone Amelia,
Domenici Raffaele,
Donati Maria Alice,
Zammarchi Enrico
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10298
Subject(s) - hypokalemic periodic paralysis , penetrance , periodic paralysis , malignant hyperthermia , paralysis , endocrinology , skeletal muscle , medicine , biology , phenotype , genetics , hypokalemia , pathology , surgery , gene
Hypokalemic periodic paralysis (HypoPP) is a channel disorder caused primarily by mutations in the human skeletal muscle α1 subunit ( CACNA1S ) of the dihydropyridine‐sensitive calcium channel. Molecular, clinical, and biochemical studies were aimed at establishing genotype/phenotype correlations in a large Italian family affected by a severe form of HypoPP. Whereas patients with HypoPP usually show a normal life span, in this family three male patients died young, one of them from anesthetic complications resembling malignant hyperthermia. Our patients carried the c1583G>A genetic lesion (R528H), which has been associated with a mild phenotype and with incomplete penetrance in women. Surprisingly, the R528H amino acid substitution in the family presented here correlated with an unfavorable prognosis in both male and female patients. We conclude that genetic characterization is an important requirement to alert physicians about the management of similar patients, especially when anesthesia is considered. Muscle Nerve 27: 165–169, 2003