RT Journal Article
SR Electronic
T1 Diverse phenotype of hypokalaemic periodic paralysis within a family
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP practneurol-2017-001677
DO 10.1136/practneurol-2017-001677
A1 Albi Jose Chalissery
A1 Tudor Munteanu
A1 Yvonne Langan
A1 Francesca Brett
A1 Janice Redmond
YR 2017
UL http://pn.bmj.com/content/early/2017/09/28/practneurol-2017-001677.abstract
AB Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.