Diverse phenotype of hypokalaemic periodic paralysis within a family.
Pract Neurol
; 18(1): 60-65, 2018 Feb.
Article
en En
| MEDLINE
| ID: mdl-28972032
ABSTRACT
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 (CACNA1Sc.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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Salud de la Familia
/
Parálisis Periódica Hipopotasémica
Tipo de estudio:
Prognostic_studies
Límite:
Aged
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Female
/
Humans
Idioma:
En
Año:
2018
Tipo del documento:
Article